The Hereditary Ataxias

Emery and Rimoin's Principles and Practice of Medical Genetics

Volumn , Issue , 2013, Pages 1-32

  Opal, Puneet ^a   Zoghbi, Huda ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882775558     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-383834-6.00125-7     Document Type: Chapter

References (341)

1. A.E. Garrod (1908) The Croonian Lectures on Inborn Errors of Metabolism.
2. R. Gaspari, A. Arcangeli, et al. (2003) Late-Onset Presentation of Ornithine Transcarbamylase Deficiency in a Young Woman with Hyperammonemic Coma. Ann. Emerg. Med. 41(1), 104-109.
3. D.J. Symula, A. Shedlovsky, et al. (1997) Genetic Mapping of hph2, A Mutation Affecting Amino Acid Transport in the Mouse. Mamm. Genome. 8(2), 98-101.
4. R. Kleta, E. Romeo, et al. (2004) Mutations in SLC6A19, Encoding B0AT1, Cause Hartnup Disorder. Nat Genet 36(9), 999-1002.
5. H.F. Seow, S. Broer, et al. (2004) Hartnup Disorder is Caused by Mutations in the Gene Encoding the Neutral Amino Acid Transporter SLC6A19. Nat. Genet. 36(9), 1003-1007.
6. H.H. Dahl, G.K. Brown, et al. (1992) Mutations and Polymorphisms in the Pyruvate Dehydrogenase E1 Alpha Gene. Hum. Mutat. 1(2), 97-102.
7. M.R. Taylor, J.B. Hurley, et al. (2004) A Zebrafish Model for Pyruvate Dehydrogenase Deficiency: Rescue of Neurological Dysfunction and Embryonic Lethality using a Ketogenic Diet. Proc. Natl. Acad. Sci. U S A. 101(13), 4584-4589.
8. Y. Aoki, X. Li, et al. (1999) Identification and Characterization of Mutations in Patients with Holocarboxylase Synthetase Deficiency. Hum. Genet. 104(2), 143-148.
9. L. Dupuis, A. Leon-Del-Rio, et al. (1996) Clustering of Mutations in the Biotin-Binding Region of Holocarboxylase Synthetase in Biotin-Responsive Multiple Carboxylase Deficiency. Hum. Mol. Genet. 5(7), 1011-1016.
10. A. Morrone, S. Malvagia, et al. (2002) Clinical Findings and Biochemical and Molecular Analysis of Four Patients with Holocarboxylase Synthetase Deficiency. Am. J. Med. Genet. 111(1), 10-18.
11. R.J. Pomponio, T.R. Reynolds, et al. (1995) Mutational Hotspot in the Human Biotinidase Gene Causes Profound Biotinidase Deficiency. Nat. Genet. 11(1), 96-98.
12. A.A. Busuttil, J.A. Goss, et al. (1998) The Role of Orthotopic Liver Transplantation in the Treatment of Ornithine Transcarbamylase Deficiency. Liver Transpl. Surg. 4(5), 350-354.
13. M.A. Morsy, J.Z. Zhao, et al. (1996) Patient Selection May Affect Gene Therapy Success. Dominant Negative Effects Observed for Ornithine Transcarbamylase in Mouse and Human Hepatocytes. J. Clin. Invest. 97(3), 826-832.
14. S. Todo, T.E. Starzl, et al. (1992) Orthotopic Liver Transplantation for Urea Cycle Enzyme Deficiency. Hepatology 15(3), 419-422.
15. M.J. Ligtenberg, S. Kemp, et al. (1995) Spectrum of Mutations in the Gene Encoding the Adrenoleukodystrophy Protein. Am. J. Hum. Genet. 56(1), 44-50.
16. J. Mosser, A.M. Douar, et al. (1993) Putative X-Linked Adrenoleukodystrophy Gene Shares Unexpected Homology with ABC Transporters. Nature 361 726-730.
17. R.E. Tanzi, K. Petrukhin, et al. (1993) The Wilson Disease Gene is a Copper Transporting ATPase with Homology to the Menkes Disease Gene. Nat. Genet. 5 344-350.
18. G.R. Thomas, J.R. Forbes, et al. (1995) The Wilson Disease Gene: Spectrum of Mutations and their Consequences. Nat. Genet. 9(2), 210-217.
19. T. Gotoda, M. Arita, et al. (1995) Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the Alpha-Tocopherol-Transfer Protein. N. Engl. J. Med. 333(20), 1313-1318.
20. K. Ouachchi, M. Arita, et al. (1995) Ataxia with Isolated Vitamin E Deficiency is Caused by Mutations in the α-Tocopherol Transfer Protein. Nat. Genet. 9 141-145.
21. C. Mariotti, C. Gellera, et al. (2004) Ataxia with Isolated Vitamin E Deficiency: Neurological Phenotype, Clinical Follow-Up and Novel Mutations in TTPA Gene in Italian Families. Neurol. Sci. 25(3), 130-137.
22. T. Yokota, T. Shiojiri, et al. (1997) Friedreich-Like Ataxia with Retinitis Pigmentosa Caused by the His101Gln Mutation of the Alpha-Tocopherol Transfer Protein Gene. Ann. Neurol. 41(6), 826-832.
23. J. Qian, J. Atkinson, et al. (2006) Biochemical Consequences of Heritable Mutations in the Alpha-Tocopherol Transfer Protein. Biochemistry 45(27), 8236-8242.
24. D. Sharp, L. Blinderman, et al. (1993) Cloning and Gene Defects in Microsomal Triglyceride Transfer Protein Associated with Abetalipoproteinaemia. Nature 365(6441), 65-69.
25. T. Yokota, K. Igarashi, et al. (2001) Delayed-Onset Ataxia in Mice Lacking Alpha-Tocopherol Transfer Protein: Model for Neuronal Degeneration caused by Chronic Oxidative Stress. Proc. Natl. Acad. Sci. U S A. 98(26), 15185-15190.
26. E. Leitersdorf, A. Reshef, et al. (1993) Frameshift and Splice-Junction Mutations in the Sterol 27-Hydroxylase Gene Cause Cerebrotendinous Xanthomatosis in Jews or Moroccan Origin. J. Clin. Invest. 91(6), 2488-2496.
27. M. Kuriyama, Y. Tokimura, et al. (1994) Treatment of Cerebrotendinous Xanthomatosis: Effects of Chenodeoxycholic acid, Pravastatin, and Combined Use. J. Neurol. Sci. 125(1), 22-28.
28. J. Peynet, A. Laurent, et al. (1991) Cerebrotendinous Xanthomatosis: Treatments with Simvastatin, Lovastatin, and Chenodeoxycholic Acid in 3 Siblings. Neurology 41(3), 434-436.
29. G.A. Jansen, R.J. Wanders, et al. (1997) Phytanoyl-Coenzyme A Hydroxylase Deficiency—the Enzyme Defect in Refsum’s Disease. N. Engl. J. Med. 337(2), 133-134.
30. S.J. Mihalik, J.C. Morrell, et al. (1997) Identification of PAHX, A Refsum Disease Gene. Nat. Genet. 17(2), 185-189.
31. G.A. Jansen, E.M. Hogenhout, et al. (2000) Human Phytanoyl-CoA Hydroxylase: Resolution of the Gene Structure and the Molecular Basis of Refsum’s Disease. Hum. Mol. Genet. 9(8), 1195-1200.
32. A. Harding (1984) The Hereditary Ataxias and Related Disorders. Edinburgh: Churchhill Livingstone
33. R.L. Hewer (1968) Study of Fatal Cases of Friedreich’s Ataxia. Br. Med. J. 3(5619), 649-652.
34. S.I. Bidichandani, C.A. Garcia, et al. (2000) Very Late-Onset Friedreich Ataxia Despite Large GAA Triplet Repeat Expansions. Arch. Neurol. 57(2), 246-251.
35. F. Palau, G. De Michele, et al. (1995) Early-Onset Ataxia with Cardiomyopathy and Retained Tendon Reflexes Maps to the Friedreich’s Ataxia Locus on Chromosome 9q. Ann. Neurol. 37(3), 359-362.
36. A. Durr, M. Cossee, et al. (1996) Clinical and Genetic Abnormalities in Patients with Friedreich’s Ataxia. N. Engl. J. Med. 335(16), 1169-1175.
37. C. Bartolo, J.R. Mendell, et al. (1998) Identification of a Missense Mutation in a Friedreich’s Ataxia Patient: Implications for Diagnosis and Carrier Studies. Am. J. Med. Genet. 79(5), 396-399.
38. S.I. Bidichandani, T. Ashizawa, et al. (1997) Atypical Friedreich Ataxia Caused by Compound Heterozygosity for a Novel Missense Mutation and the GAA Triplet-Repeat Expansion. Am. J. Hum. Genet. 60(5), 1251-1256.
39. M. Cossee, A. Durr, et al. (1999) Friedreich’s Ataxia: Point Mutations and Clinical Presentation of Compound Heterozygotes. Ann. Neurol. 45(2), 200-206.
40. M.L. McCormack, R.P. Guttmann, et al. (2000) Frataxin Point Mutations in Two Patients with Friedreich’s Ataxia and Unusual Clinical Features. J. Neurol. Neurosurg. Psychiatry. 68(5), 661-664.
41. J.G. Greenfield (1954) The Spino-Cerebellar Degenerations. Springfield, IL: C. C. Thomas
42. V. Campuzano, L. Montermini, et al. (1996) Friedreich’s Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion. Science 271(5254), 1423-1427.
43. M. Cossee, M. Schmitt, et al. (1997) Evolution of the Friedreich’s Ataxia Trinucleotide Repeat Expansion: Founder Effect and Premutations. Proc. Natl. Acad. Sci. U.S.A. 94(14), 7452-7457.
44. A. Filla, G. De Michele, et al. (1996) The Relationship Between Trinucleotide (GAA) Repeat Length and Clinical Features in Friedreich Ataxia. Am. J. Hum. Genet. 59(3), 554-560.
45. E. Monros, M.D. Molto, et al. (1997) Phenotype Correlation and Intergenerational Dynamics of the Friedreich Ataxia GAA Trinucleotide Repeat. Am. J. Hum. Genet. 61(1), 101-110.
46. N. Sakamoto, P.D. Chastain, et al. (1999) Sticky DNA: Self-Association Properties of Long GAA.TTC Repeats in R.R.Y Triplex Structures from Friedreich’s Ataxia. Mol. Cell. 3(4), 465-475.
47. H. Koutnikova, V. Campuzano, et al. (1997) Studies of Human, Mouse and Yeast Homologues Indicate a Mitochondrial Function for Frataxin. Nat. Genet. 16(4), 345-351.
48. H. Puccio and M. Koenig (2000) Recent Advances in the Molecular Pathogenesis of Friedreich Ataxia. Hum. Mol. Genet. 9(6), 887-892.
49. M. Babcock, D. de Silva, et al. (1997) Regulation of Mitochondrial Iron Accumulation by Yfh1p, A Putative Homolog of Frataxin. Science 276(5319), 1709-1712.
50. D.C. Radisky, M.C. Babcock, et al. (1999) The Yeast Frataxin Homologue Mediates Mitochondrial Iron Efflux. Evidence for a Mitochondrial Iron Cycle. J. Biol. Chem. 274(8), 4497-4499.
51. A.L. Bulteau, H.A. O’Neill, et al. (2004) Frataxin Acts as an Iron Chaperone Protein to Modulate Mitochondrial Aconitase Activity. Science 305(5681), 242-245.
52. A. Rotig, P. de Lonlay, et al. (1997) Aconitase and Mitochondrial Iron–Sulphur Protein Deficiency in Friedreich Ataxia. Nat. Genet. 17(2), 215-217.
53. P. Rustin, J.C. von Kleist-Retzow, et al. (1999) Effect of Idebenone on Cardiomyopathy in Friedreich’s Ataxia: A Preliminary Study. Lancet 354(9177), 477-479.
54. H. Puccio (2009) Multicellular Models of Friedreich Ataxia. J. Neurol. 256(Suppl 1), 18-24.
55. M. Cossee, H. Puccio, et al. (2000) Inactivation of the Friedreich Ataxia Mouse Gene Leads to Early Embryonic Lethality without Iron Accumulation. Hum. Mol. Genet. 9(8), 1219-1226.
56. S. Al-Mahdawi, R.M. Pinto, et al. (2006) Gaa Repeat Expansion Mutation Mouse Models of Friedreich Ataxia Exhibit Oxidative Stress Leading to Progressive Neuronal and Cardiac Pathology. Genomics 88(5), 580-590.
57. K. Christodoulou, F. Deymeer, et al. (2001) Mapping of the Second Friedreich’s Ataxia (FRDA2) Locus to Chromosome 9p23-p11: Evidence for Further Locus Heterogeneity. Neurogenetics 3(3), 127-132.
58. M. Kostrzewa, T. Klockgether, et al. (1997) Locus Heterogeneity in Friedreich Ataxia. Neurogenetics 1(1), 43-47.
59. J.B. Schulz, T. Dehmer, et al. (2000) Oxidative Stress in Patients with Friedreich Ataxia. Neurology 55(11), 1719-1721.
60. T. Sherer and J.T. Greenamyre (2000) A Therapeutic Target and Biomarker in Friedreich’s Ataxia. Neurology 55(11), 1600-1601.
61. J.M. Cooper, L.V. Korlipara, et al. (2008) Coenzyme Q10 and Vitamin E Deficiency in Friedreich’s Ataxia: Predictor of Efficacy of Vitamin E and Coenzyme Q10 Therapy. Eur. J. Neurol. 15(12), 1371-1379.
62. J.B. Schulz, N.A. Di Prospero, et al. (2009) Clinical Experience with High-Dose Idebenone in Friedreich Ataxia. J. Neurol. 256(Suppl 1), 42-45.
63. N.A. Di Prospero, A. Baker, et al. (2007) Neurological Effects of High-Dose Idebenone in Patients with Friedreich’s Ataxia: A Randomised, Placebo-Controlled Trial. Lancet. Neurol. 6(10), 878-886.
64. D. Herman, K. Jenssen, et al. (2006) Histone Deacetylase Inhibitors Reverse Gene Silencing in Friedreich’s Ataxia. Nat. Chem. Biol. 2(10), 551-558.
65. M. Rai, E. Soragni, et al. (2008) HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model. PLoS ONE 3(4), e1958.
66. R. Stell, A.M. Bronstein, et al. (1989) Ataxia Telangiectasia: a Reappraisal of the Ocular Motor Features and their Value in the Diagnosis of Atypical Cases. Mov. Disord. 4(4), 320-329.
67. E. Maserati, A. Ottolini, et al. (1988) Ataxia-Without-Telangiectasia in Two Sisters with Rearrangements of Chromosomes 7 and 14. Clin. Genet. 34(5), 283-287.
68. R.A. Gatti, E. Boder, et al. (1991) Ataxia-Telangiectasia: An Interdisciplinary Approach to Pathogenesis. Medicine (Baltimore) 70(2), 99-117.
69. R.W. Baloh, R.D. Yee, et al. (1978) Eye Movements in Ataxia-Telangiectasia. Neurology 28(11), 1099-1104.
70. G.A. De Leon, W.D. Grover, et al. (1976) Neuropathologic Changes in Ataxia-Telangiectasia. Neurology 26(10), 947-951.
71. M.F. Lavin, N. Gueven, et al. (2007) Current and Potential Therapeutic Strategies for the Treatment of Ataxia-Telangiectasia. Br. Med. Bull. 81-82 129-147.
72. S. Gilad, L. Chessa, et al. (1998) Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants. Am. J. Hum. Genet. 62(3), 551-561.
73. S. Saviozzi, A. Saluto, et al. (2002) A Late Onset Variant of Ataxia-Telangiectasia with a Compound Heterozygous Genotype, A8030G/7481insA. J. Med. Genet. 39(1), 57-61.
74. R.A. Gatti, I. Berkel, et al. (1988) Localization of an Ataxia-Telangiectasia Gene to Chromosome 11q22-23. Nature 336(6199), 577-580.
75. K. Savitsky, S. Sfez, et al. (1995) The Complete Sequence of the Coding Region of the ATM Gene Reveals Similarity to Cell Cycle Regulators in Different Species. Hum. Mol. Genet. 4(11), 2025-2032.
76. K.D. Brown, Y. Ziv, et al. (1997) The Ataxia-Telangiectasia Gene Product, a Constitutively Expressed Nuclear Protein that is Not Up-Regulated Following Genome Damage. Proc. Natl. Acad. Sci. U.S.A. 94(5), 1840-1845.
77. K.K. Khanna, K.E. Keating, et al. (1998) ATM Associates with and Phosphorylates p53: Mapping the Region of Interaction. Nat. Genet. 20(4), 398-400.
78. D. Cortez, Y. Wang, et al. (1999) Requirement of ATM-Dependent Phosphorylation of Brca1 in the DNA Damage Response to Double-Strand Breaks. Science 286(5442), 1162-1166.
79. K.H. Herzog, M.J. Chong, et al. (1998) Requirement for Atm in Ionizing Radiation-Induced Cell Death in the Developing Central Nervous System. Science 280(5366), 1089-1091.
80. C. Barlow, S. Hirotsune, et al. (1996) Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia. Cell 86(1), 159-171.
81. C.E. Canman and D.S. Lim (1998) The Role of ATM in DNA Damage Responses and Cancer. Oncogene 17(25), 3301-3308.
82. G. Rotman and Y. Shiloh (1998) ATM: From Gene to Function. Hum. Mol. Genet. 7(10), 1555-1563.
83. D.S. Lim, D.G. Kirsch, et al. (1998) ATM Binds to Beta-Adaptin in Cytoplasmic Vesicles. Proc. Natl. Acad. Sci. U.S.A. 95(17), 10146-10151.
84. T. Uziel, K. Savitsky, et al. (1996) Genomic Organization of the ATM Gene. Genomics 33(2), 317-320.
85. C.H. Buzin, R.A. Gatti, et al. (2003) Comprehensive Scanning of the ATM Gene with DOVAM-S. Hum. Mutat. 21(2), 123-131.
86. G.S. Stewart, R.S. Maser, et al. (1999) The DNA Double-Strand Break Repair Gene hMRE11 is Mutated in Individuals with an Ataxia-Telangiectasia-Like Disorder. Cell 99(6), 577-587.
87. M. Fernet, M. Gribaa, et al. (2005) Identification and Functional Consequences of a Novel MRE11 Mutation Affecting 10 Saudi Arabian Patients with the Ataxia Telangiectasia-Like Disorder. Hum. Mol. Genet. 14(2), 307-318.
88. K.H. Kraemer, M.M. Lee, et al. (1984) DNA Repair Protects Against Cutaneous and Internal Neoplasia: Evidence from Xeroderma Pigmentosum. Carcinogenesis 5(4), 511-514.
89. K.H. Kraemer, J.J. DiGiovanna, et al. (1988) Prevention of Skin Cancer in Xeroderma Pigmentosum with the Use of Oral Isotretinoin. N. Engl. J. Med. 318(25), 1633-1637.
90. A.R. Lehmann, D. Bootsma, et al. (1994) Nomenclature of Human DNA Repair Genes. Mutat. Res. 315(1), 41-42.
91. M.A. Nance and S.A. Berry (1992) Cockayne Syndrome: Review of 140 Cases. Am. J. Med. Genet. 42(1), 68-84.
92. A.J. van Gool, G.T. van der Horst, et al. (1997) Cockayne Syndrome: Defective Repair of Transcription? Embo. J. 16(14), 4155-4162.
93. M. Murai, Y. Enokido, et al. (2001) Early Postnatal Ataxia and Abnormal Cerebellar Development in Mice Lacking Xeroderma Pigmentosum Group A and Cockayne Syndrome Group B DNA Repair Genes. Proc. Natl. Acad. Sci. U.S.A. 98(23), 13379-13384.
94. H. Date, O. Onodera, et al. (2001) Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia is Caused by Mutations in a New HIT Superfamily Gene. Nat. Genet. 29(2), 184-188.
95. M.C. Moreira, C. Barbot, et al. (2001) The Gene Mutated in Ataxia-Ocular Apraxia 1 Encodes the new HIT/Zn-Finger Protein Aprataxin. Nat. Genet. 29(2), 189-193.
96. Y. Sano, H. Date, et al. (2004) Aprataxin, the Causative Protein for EAOH is a Nuclear Protein with a Potential Role as a DNA Repair Protein. Ann. Neurol. 55(2), 241-249.
97. I. Le Ber, O. Dubourg, et al. (2007) Muscle Coenzyme Q10 Deficiencies in Ataxia with Oculomotor Apraxia 1. Neurology 68(4), 295-297.
98. C.M. Quinzii, A.G. Kattah, et al. (2005) Coenzyme Q Deficiency and Cerebellar Ataxia Associated with an Aprataxin Mutation. Neurology 64(3), 539-541.
99. C. Barbot, P. Coutinho, et al. (2001) Recessive Ataxia with Ocular Apraxia: Review of 22 Portuguese Patients. Arch. Neurol. 58(2), 201-205.
100. I. Le Ber, N. Bouslam, et al. (2004) Frequency and Phenotypic Spectrum of Ataxia with Oculomotor Apraxia 2: a Clinical and Genetic Study in 18 Patients. Brain 127(Pt 4), 759-767.
101. A.H. Nemeth, E. Bochukova, et al. (2000) Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia-Like Syndrome) is Linked to Chromosome 9q34. Am. J. Hum. Genet. 67(5), 1320-1326.
102. M.C. Moreira, S. Klur, et al. (2004) Senataxin, The Ortholog of a Yeast RNA Helicase, Is Mutant in Ataxia-Ocular Apraxia 2. Nat. Genet. 36(3), 225-227.
103. A. Suraweera, Y. Lim, et al. (2009) Functional Role for Senataxin, Defective in Ataxia Oculomotor Apraxia type 2, in Transcriptional Regulation. Hum. Mol. Genet. 18(18), 3384-3396.
104. Y.W. Chen, M.D. Allen, et al. (2004) The Structure of the AXH Domain of Spinocerebellar Ataxin-1. J. Biol. Chem. 279(5), 3758-3765.
105. Y.Z. Chen, C.L. Bennett, et al. (2004) DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4). Am. J. Hum. Genet. 74(6), 1128-1135.
106. R.M. Norman (1940) Primary Degeneration of the Granular Layer of the Cerebellum: An Unusual form of Familial Cerebellary Atrophy Occuring in Early Life. Brain 63 365-379.
107. V. Delague, C. Bareil, et al. (2001) Nonprogressive Autosomal Recessive Ataxia Maps to Chromosome 9q34-9qter in a Large Consanguineous Lebanese Family. Ann. Neurol. 50(2), 250-253.
108. H. Spoendlin (1974) Optic Cochleovestibular Degenerations in Hereditary Ataxias. II. Temporal Bone Pathology in Two Cases of Friedreich’s Ataxia with Vestibulo-Cochlear Disorders. Brain 97(1), 41-48.
109. L. van Bogaert and L. Martin (1974) Optic and Cochleovestibular Degenerations in the Hereditary Ataxias. I. Clinico-Pathological and Genetic Aspects. Brain 97(1), 15-40.
110. P. Bomont, M. Watanabe, et al. (2000) Homozygosity Mapping of Spinocerebellar Ataxia with Cerebellar Atrophy and Peripheral Neuropathy to 9q33-34, and with Hearing Impairment and Optic Atrophy to 6p21-23. Eur. J. Hum. Genet. 8(12), 986-990.
111. B.E. Swartz, S. Li, et al. (2003) Pathogenesis of Clinical Signs in Recessive Ataxia with Saccadic Intrusions. Ann. Neurol. 54(6), 824-828.
112. A. Megarbane, V. Delague, et al. (2001) New Autosomal Recessive Cerebellar Ataxia Disorder in a Large Inbred Lebanese Family. Am. J. Med. Genet. 101(2), 135-141.
113. V. Delague, C. Bareil, et al. (2002) A New Autosomal Recessive Non-Progressive Congenital Cerebellar Ataxia Associated with Mental Retardation, Optic Atrophy, and Skin Abnormalities (CAMOS) Maps to Chromosome 15q24-q26 in a Large Consanguineous Lebanese Druze Family. Neurogenetics 4(1), 23-27.
114. P.H. Kvistad, A. Dahl, et al. (1985) Autosomal Recessive Non-Progressive Ataxia with an Early Childhood Debut. Acta. Neurol. Scand. 71(4), 295-302.
115. L. Tranebjaerg, T.M. Teslovich, et al. (2003) Genome-Wide Homozygosity Mapping Localizes a Gene for Autosomal Recessive Non-Progressive Infantile Ataxia to 20q11-q13. Hum. Genet. 113(3), 293-295.
116. G.J. Breedveld, B. van Wetten, et al. (2004) A New Locus for a Childhood Onset, Slowly Progressive Autosomal Recessive Spinocerebellar Ataxia Maps to Chromosome 11p15. J. Med. Genet. 41(11), 858-866.
117. N. Dupre, F. Gros-Louis, et al. (2007) Clinical and Genetic Study of Autosomal Recessive Cerebellar Ataxia Type 1. Ann. Neurol. 62(1), 93-98.
118. F. Gros-Louis, N. Dupre, et al. (2007) Mutations in SYNE1 Lead to a Newly Discovered form of Autosomal Recessive Cerebellar Ataxia. Nat. Genet. 39(1), 80-85.
119. C. Lagier-Tourenne, M. Tazir, et al. (2008) ADCK3, An Ancestral Kinase, is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency. Am. J. Hum. Genet. 82(3), 661-672.
120. C. Lamperti, A. Naini, et al. (2003) Cerebellar Ataxia and Coenzyme Q10 Deficiency. Neurology 60(7), 1206-1208.
121. L. Brown and M. Mueller (1984) A Non-Progressive Cerebellar Ataxia on Grand Cayman Island. Neurology (34), 273.
122. W. Johnson and M. Murphy (1978) Recessive Congenital Cerebellar Disorder in a Genetic Isolate: CPD Type VII? Neurology (28), 352.
123. A. Nystuen, P.J. Benke, et al. (1996) A Cerebellar Ataxia Locus Identified by DNA Pooling to Search for Linkage Disequilibrium in an Isolated Population from the Cayman Islands. Hum. Mol. Genet. 5(4), 525-531.
124. J.M. Bomar, P.J. Benke, et al. (2003) Mutations in a Novel Gene Encoding a CRAL-TRIO Domain Cause Human Cayman Ataxia and Ataxia/Dystonia in the Jittery Mouse. Nat. Genet. 35(3), 264-269.
125. K. Nikali, A. Suomalainen, et al. (2005) Infantile Onset Spinocerebellar Ataxia is Caused by Recessive Mutations in Mitochondrial Proteins Twinkle and Twinky. Hum. Mol. Genet. 14(20), 2981-2990.
126. T. Koskinen, P. Santavuori, et al. (1994) Infantile Onset Spinocerebellar Ataxia with Sensory Neuropathy: A New Inherited Disease. J. Neurol. Sci. 121(1), 50-56.
127. T. Lonnqvist, A. Paetau, et al. (1998) Infantile Onset Spinocerebellar Ataxia with Sensory Neuropathy (IOSCA): Neuropathological Features. J. Neurol. Sci. 161(1), 57-65.
128. T. Lonnqvist, A. Paetau, et al. (2009) Recessive Twinkle Mutations Cause Severe Epileptic Encephalopathy. Brain 132(Pt 6), 1553-1562.
129. A.H. Hakonen, S. Goffart, et al. (2008) Infantile-Onset Spinocerebellar Ataxia and Mitochondrial Recessive Ataxia Syndrome are Associated with Neuronal Complex I Defect and mtDNA Depletion. Hum. Mol. Genet. 17(23), 3822-3835.
130. J.C. Engert, P. Berube, et al. (2000) ARSACS, A Spastic Ataxia Common in Northeastern Quebec, is Caused by Mutations in a New Gene Encoding an 11.5-kb ORF. Nat. Genet. 24(2), 120-125.
131. T.M. Strom, K. Hortnagel, et al. (1998) Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (wolframin) Coding for a Predicted Transmembrane Protein. Hum. Mol. Genet. 7(13), 2021-2028.
132. P. Marie (1893) Sur l’Heredoataxie Cerebelleuse. Sem. Med. (Paris) 13 444-447.
133. G. Holmes (1907) An Attempt to Classify Cerebellar Disease with a Note on Marie’s Hereditary Cerebellar Ataxia. Brain 30 545-567.
134. H.T. Orr and H.Y. Zoghbi (2007) Trinucleotide Repeat Disorders. Annu. Rev. Neurosci. 30 575-621.
135. H.Y. Zoghbi and H.T. Orr (2000) Glutamine Repeats and Neurodegeneration. Annu. Rev. Neurosci. 23 217-247.
136. S. Banfi, A. Servadio, et al. (1994) Identification and Characterization of the Gene Causing Type 1 Spinocerebellar Ataxia. Nat. Genet. 7(4), 513-520.
137. H. Orr, M.-Y. Chung, et al. (1993) Expansion of an Unstable Trinucleotide (CAG) Repeat in Spinocerebellar Ataxia Type 1. Nat. Genet. 4 221-226.
138. A. Servadio, B. Koshy, et al. (1995) Expression Analysis of the Ataxin-1 Protein in Tissues from Normal and Spinocerebellar Ataxia Type 1 Individuals. Nat. Genet. 10(1), 94-98.
139. A. Servadio, A. McCall, et al. (1995) Mapping of the Sca1 and Pcd Genes on Mouse Chromosome 13 Provides Evidence that They are Different Genes. Genomics 29 812-813.
140. M.-Y. Chung, L.P.W. Ranum, et al. (1993) Analysis of the CAG Repeat Expansion in Spinocerebellar Ataxia Type I: Evidence for a Possible Mechanism Predisposing to Instability. Nat. Genet. 5 254-258.
141. A. Matilla, E.D. Roberson, et al. (1998) Mice Lacking Ataxin-1 Display Learning Deficits and Decreased Hippocampal Paired-Pulse Facilitation. J. Neurosci 18(14), 5508-5516.
142. E.N. Burright, H.B. Clark, et al. (1995) SCA1 Transgenic Mice: A Model for Neurodegeneration Caused by an Expanded CAG Trinucleotide Repeat. Cell 82 937-948.
143. C.J. Cummings, M.A. Mancini, et al. (1998) Chaperone Suppression of Aggregation and Altered Subcellular Proteasome Localization Imply Protein Misfolding in SCA1. Nat. Genet. 19(2), 148-154.
144. Y. Chai, S.L. Koppenhafer, et al. (1999) Analysis of the Role of Heat Shock Protein (Hsp) Molecular Chaperones in Polyglutamine Disease. J. Neurosci. 19(23), 10338-10347.
145. Y. Chai, S.L. Koppenhafer, et al. (1999) Evidence for Proteasome Involvement in Polyglutamine Disease: Localization to Nuclear Inclusions in SCA3/MJD and Suppression of Polyglutamine Aggregation In Vitro. Hum. Mol. Genet. 8(4), 673-682.
146. C.J. Cummings, H.T. Orr, et al. (1999) Progress in Pathogenesis Studies of Spinocerebellar Ataxia Type 1. Philos. Trans. R. Soc. Lond. B Biol. Sci. 354(1386), 1079-1081.
147. F. Saudou, S. Finkbeiner, et al. (1998) Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does not Correlate with the Formation of Intranuclear Inclusions. Cell 95(1), 55-66.
148. P. Opal and H.Y. Zoghbi (2002) The Role of Chaperones in Polyglutamine Disease. Trends. Mol. Med. 8(5), 232-236.
149. K. Watase, E.J. Weeber, et al. (2002) A Long CAG Repeat in the Mouse Sca1 Locus Replicates SCA1 Features and Reveals the Impact of Protein Solubility on Selective Neurodegeneration. Neuron 34(6), 905-919.
150. E.S. Emamian, M.D. Kaytor, et al. (2003) Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice. Neuron 38(3), 375-387.
151. Y.C. Lam, A.B. Bowman, et al. (2006) ATAXIN-1 Interacts with the Repressor Capicua in its Native Complex to Cause SCA1 Neuropathology. Cell 127(7), 1335-1347.
152. J. Lim, J. Crespo-Barreto, et al. (2008) Opposing Effects of Polyglutamine Expansion on Native Protein Complexes Contribute to SCA1. Nature 452(7188), 713-718.
153. M. Cvetanovic, R.J. Rooney, et al. (2007) The Role of LANP and Ataxin 1 in E4F-Mediated Transcriptional Repression. EMBO Rep 8(7), 671-677.
154. J.R. Gatchel, K. Watase, et al. (2008) The Insulin-Like Growth Factor Pathway is Altered in Spinocerebellar Ataxia Type 1 and Type 7. Proc. Natl. Acad. Sci. U S A. 105(4), 1291-1296.
155. X. Lin, B. Antalffy, et al. (2000) Polyglutamine Expansion in Ataxin-1 Downregulates Specific Neuronal Genes Before Pathogenic Changes in Spinocerebellar Ataxia type 1. Hum. Mol. Genet. 3(2), in press
156. H.G. Serra, C.E. Byam, et al. (2004) Gene Profiling Links SCA1 Pathophysiology to Glutamate Signaling in Purkinje Cells of Transgenic Mice. Hum. Mol. Genet. 13(20), 2535-2543.
157. H.G. Serra, L. Duvick, et al. (2006) RORalpha-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice. Cell 127(4), 697-708.
158. C.C. Tsai, H.Y. Kao, et al. (2004) Ataxin 1, a SCA1 Neurodegenerative Disorder Protein, is Functionally Linked to the Silencing Mediator of Retinoid and Thyroid Hormone Receptors. Proc. Natl. Acad. Sci. U S A. 101(12), 4047-4052.
159. H. Tsuda, H. Jafar-Nejad, et al. (2005) The AXH Domain of Ataxin-1 Mediates Neurodegeneration through its Interaction with Gfi-1/Senseless Proteins. Cell 122(4), 633-644.
160. S. Chintawar, R. Hourez, et al. (2009) Grafting Neural Precursor Cells Promotes Functional Recovery in an SCA1 Mouse Model. J. Neurosci. 29(42), 13126-13135.
161. K. Watase, J.R. Gatchel, et al. (2007) Lithium Therapy Improves Neurological Function and Hippocampal Dendritic Arborization in a Spinocerebellar Ataxia Type 1 Mouse Model. PLoS Med 4(5), e182.
162. G. Orozco, R. Estrada, et al. (1989) Dominantly Inherited Olivopontocerebellar Atrophy from Eastern Cuba. Clinical, Neuropathological, and Biochemical Findings. J. Neurol. Sci. 93 37-50.
163. I. Lopes-Cendes, E. Andermann, et al. (1994) Confirmation of the SCA-2 Locus as an Alternative Locus for Dominantly Inherited Spinocerebellar Ataxias and Refinement of the Candidate Region. Am. J. Hum. Genet. 54(5), 774-781.
164. G. Auburger, G.O. Diaz, et al. (1990) Autosomal Dominant Ataxia: Genetic Evidence for Locus Heterogeneity from a Cuban Founder-Effect Population. Am. J. Hum. Genet. 46(6), 1163-1177.
165. S. Gispert, R. Twells, et al. (1993) Chromosomal Assignment of the Second Locus for Autosomal Dominant Cerebellar Ataxia (SCA2) to Chromosome 12q23-24.1. Nature Genetics 4 295-299.
166. G. Orozco, A. Nordarse, et al. (1990) Autosomal Dominant Cerebellar Ataxia: Clinical Ananlysis of 263 Patients from a Homogeneous Population in Holguin, Cuba. Neurology 40(9), 1369-1375.
167. D. Babovic-Vuksanovic, K. Snow, et al. (1998) Spinocerebellar Ataxia Type 2 (SCA 2) in an Infant with Extreme CAG Repeat Expansion. Am. J. Med. Genet. 79(5), 383-387.
168. A. Malandrini, L. Galli, et al. (1998) CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study. Eur. Neurol. 40(3), 164-168.
169. S. Belal, G. Cancel, et al. (1994) Clinical and Genetic Analysis of a Tunisian Family with Autosomal Dominant Cerebellar Ataxia Type 1 Linked to the SCA2 Locus. Neurology 44(8), 1423-1426.
170. A. Durr, D. Smadja, et al. (1995) Autosomal Dominant Cerebellar Ataxia Type 1 in Martinique (French West Indies): Clinical and Neuropathological Analysis of 53 Patients from Three Unrelated SCA2 Families. Brain 118 1573-1581.
171. D.P. Huynh, M.R. Del Bigio, et al. (1999) Expression of Ataxin-2 in Brains from Normal Individuals and Patients with Alzheimer’s Disease and Spinocerebellar Ataxia 2. Ann. Neurol 45(2), 232-241.
172. A.H. Koeppen (1998) The Hereditary Ataxias. J Neuropathol. Exp. Neurol. 57(6), 531-543.
173. G. Imbert, F. Saudou, et al. (1996) Cloning of the Gene for Spinocerebellar Ataxia 2 Reveals a Locus with High Sensitivity to Expanded CAG/Glutamine Repeats. Nat. Genet. 14(3), 285-291.
174. S.-M. Pulst, A. Nechiporuk, et al. (1996) Identification of the SCA2 Gene: Moderate Expansion of a Normally Biallelic Trinucleotide Repeat. Nat. Genet. 14 269-276.
175. K. Sanpei, H. Takano, et al. (1996) Identification of the Gene for Spinocerebellar Ataxia Type 2 (SCA2) Using a Direct Identification of Repeat Expansion and Cloning Technique (DIRECT). Nat. Genet. 14 277-284.
176. S. Sahba, A. Nechiporuk, et al. (1998) Genomic Structure of the Human Gene for Spinocerebellar Ataxia Type 2 (SCA2) on Chromosome 12q24.1. Genomics 47(3), 359-364.
177. U. Nonhoff, M. Ralser, et al. (2007) Ataxin-2 Interacts with the DEAD/H-Box RNA Helicase DDX6 and Interferes with P-Bodies and Stress Granules. Mol. Biol. Cell. 18(4), 1385-1396.
178. S. van de Loo, F. Eich, et al. (2009) Ataxin-2 Associates with Rough Endoplasmic Reticulum. Exp. Neurol. 215(1), 110-118.
179. J. Liu, T.S. Tang, et al. (2009) Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2. J. Neurosci. 29(29), 9148-9162.
180. A.C. Elden, H.J. Kim, et al. (2010) Ataxin-2 Intermediate-Length Polyglutamine Expansions are Associated with Increased Risk for ALS. Nature 466(7310), 1069-1075.
181. Y. Kawaguchi, T. Okamoto, et al. (1994) CAG Expansions in a Novel Gene for Machado–Joseph Disease at Chromosome 14q32.1. Nat. Genet. 8(3), 221-227.
182. O. Riess, U. Rub, et al. (2008) SCA3: Neurological Features, Pathogenesis and Animal Models. Cerebellum 7(2), 125-137.
183. H. Ikeda, M. Yamaguchi, et al. (1996) Expanded Polyglutamine in the Machado–Joseph Disease Protein Induces Cell Death In Vitro and In Vivo. Nat. Genet. 13 196-202.
184. J.M. Warrick, H.L. Paulson, et al. (1998) Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila. Cell 93(6), 939-949.
185. Y. Kawai, A. Takeda, et al. (2004) Cognitive Impairments in Machado–Joseph Disease. Arch Neurol 61(11), 1757-1760.
186. T.H. Yeh, C.S. Lu, et al. (2005) Autonomic Dysfunction in Machado–Joseph Disease. Arch. Neurol. 62(4), 630-636.
187. E.W. Doss-Pepe, E.S. Stenroos, et al. (2003) Ataxin-3 Interactions with rad23 and Valosin-Containing Protein and its Associations with Ubiquitin Chains and the Proteasome Are Consistent with a Role in Ubiquitin-Mediated Proteolysis. Mol. Cell. Biol. 23(18), 6469-6483.
188. Y.C. Tsai, P.S. Fishman, et al. (2003) Parkin Facilitates the Elimination of Expanded Polyglutamine Proteins and Leads to Preservation of Proteasome Function. J. Biol. Chem. 278(24), 22044-22055.
189. K. Gardner, K. Alderson, et al. (1994) Autosomal Dominant Spinocerebellar Ataxia: Clinical Description of a Distinct Hereditary Ataxia and Genetic Localization to Chromosome 16 (SCA4) in a Utah Kindred. Neurology 44(4), A361. (Abstract)
190. U. Nagaoka, M. Takashima, et al. (2000) A Gene on SCA4 Locus Causes Dominantly Inherited Pure Cerebellar Ataxia. Neurology 54(10), 1971-1975.
191. Y. Ikeda, K.A. Dick, et al. (2006) Spectrin Mutations Cause Spinocerebellar Ataxia Type 5. Nat. Genet. 38(2), 184-190.
192. L.P. Ranum, L.J. Schut, et al. (1994) Spinocerebellar Ataxia Type 5 in a Family Descended from the Grandparents of President Lincoln Maps to Chromosome 11. Nat. Genet. 8(3), 280-284.
193. M.L. Moseley, K.A. Benzow, et al. (1998) Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxia Families. Neurology 51(6), 1666-1671.
194. L. Schols, R. Kruger, et al. (1998) Spinocerebellar Ataxia Type 6: Genotype and Phenotype in German Kindreds. J. Neurol. Neurosurg. Psychiatry. 64(1), 67-73.
195. E. Storey, D. du Sart, et al. (2000) Frequency of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Australian Patients with Spinocerebellar Ataxia. Am. J. Med. Genet. 95(4), 351-357.
196. E. Mantuano, L. Veneziano, et al. (2003) Spinocerebellar Ataxia Type 6 and Episodic Ataxia Type 2: Differences and Similarities Between two Allelic Disorders. Cytogenet. Genome. Res. 100(1–4), 147-153.
197. C.M. Gomez, R.M. Thompson, et al. (1997) Spinocerebellar Ataxia Type 6: Gaze-Evoked and Vertical Nystagmus, Purkinje Cell Degeneration, and Variable Age of Onset. Ann. Neurol. 42(6), 933-950.
198. O. Zhuchenko, J. Bailey, et al. (1997) Autosomal Dominant Cerebellar Ataxia (SCA6) Associated with Small Polyglutamine Expansions in the Alpha 1A-Voltage-Dependent Calcium Channel. Nat. Genet. 15(1), 62-69.
199. K. Ishikawa, H. Fujigasaki, et al. (1999) Abundant Expression and Cytoplasmic Aggregations of [Alpha]1A Voltage-Dependent Calcium Channel Protein Associated with Neurodegeneration in Spinocerebellar Ataxia Type 6. Hum. Mol. Genet. 8(7), 1185-1193.
200. Y. Takiyama, K. Sakoe, et al. (1998) A Japanese Family with Spinocerebellar Ataxia Type 6 which Includes Three Individuals Homozygous for an Expanded CAG Repeat in the SCA6/CACNL1A4 Gene. J. Neurol. Sci. 158(2), 141-147.
201. H. Takahashi, K. Ishikawa, et al. (2004) A Clinical and Genetic Study in a Large Cohort of Patients with Spinocerebellar Ataxia Type 6. J. Hum. Genet. 49(5), 256-264.
202. S. Restituito, R.M. Thompson, et al. (2000) The Polyglutamine Expansion in Spinocerebellar Ataxia Type 6 Causes a Beta Subunit-Specific Enhanced Activation of P/Q-Type Calcium Channels in Xenopus Oocytes. J. Neurosci. 20(17), 6394-6403.
203. R.A. Ophoff, G.M. Terwindt, et al. (1996) Familial Hemiplegic migraine and Episodic Ataxia Type-2 are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4. Cell 87(3), 543-552.
204. H. Nakamura, Y. Yasui, et al. (2006) DNA Repair Defect in AT Cells and their Hypersensitivity to Low-Dose-Rate Radiation. Radiat. Res. 165(3), 277-282.
205. I. Alonso, J. Barros, et al. (2003) Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique Cacna1a Missense Mutation in Patients from a Large Family. Arch. Neurol. 60(4), 610-614.
206. C. Jodice, E. Mantuano, et al. (1997) Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p. Hum. Mol. Genet. 6(11), 1973-1978.
207. C.S. Benton, R. de Silva, et al. (1998) Molecular and Clinical Studies in SCA-7 Define a Broad Clinical Spectrum and the Infantile Phenotype. Neurology 51 1081-1086.
208. T.P. Enevoldson, M.D. Sanders, et al. (1994) Autosomal Dominant Cerebellar Ataxia with Pigmentary Macular Dystrophy. A Clinical and Genetic Study of Eight Families. Brain 117(Pt 3), 445-460.
209. J. Johansson, L. Forsgren, et al. (1998) Expanded CAG Repeats in Swedish Spinocerebellar Ataxia Type 7 (SCA7) Patients: Effect of CAG Repeat Length on the Clinical Manifestation. Hum. Mol. Genet. 7(2), 171-176.
210. B.P. van de Warrenburg, C.W. Frenken, et al. (2001) Striking Anticipation in Spinocerebellar Ataxia Type 7: The Infantile Phenotype. J. Neurol. 248(10), 911-914.
211. L.G. Gouw, C.D. Kaplan, et al. (1995) Retinal Degeneration Characterizes a Spinocerebellar Ataxia Mapping to Chromosome 3p. Nat. Genet. 10 89-93.
212. A. Michalik, J.J. Martin, et al. (2004) Spinocerebellar Ataxia Type 7 Associated with Pigmentary Retinal Dystrophy. Eur. J. Hum. Genet. 12(1), 2-15.
213. A. Benomar, L. Krols, et al. (1995) The Gene for Autosomal Dominant Cerebellar Ataxia with Pigmentary Macular Dystrophy Maps to Chromosome 3p12-p21.1. Nat. Genet. 10 84-88.
214. M. Holmberg, C. Duyckaerts, et al. (1998) Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder with Neuronal Intranuclear Inclusions. Hum. Mol. Genet. 7(5), 913-918.
215. G. David, N. Abbas, et al. (1997) Cloning of the SCA7 Gene Reveals a Highly Unstable CAG Repeat Expansion. Nat. Genet. 17 65-70.
216. G. Stevanin, P. Giunti, et al. (1998) De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7. Hum. Mol. Genet. 7(11), 1809-1813.
217. S.Y. Yoo, M.E. Pennesi, et al. (2003) SCA7 Knockin Mice Model Human SCA7 and Reveal Gradual Accumulation of Mutant Ataxin-7 in Neurons and Abnormalities in Short-Term Plasticity. Neuron 37(3), 383-401.
218. G. Yvert, K.S. Lindenberg, et al. (2001) SCA7 Mouse Models Show Selective Stabilization of Mutant Ataxin-7 and Similar Cellular Responses in Different Neuronal Cell Types. Hum. Mol. Genet. 10(16), 1679-1692.
219. G. Yvert, K.S. Lindenberg, et al. (2000) Expanded Polyglutamines Induce Neurodegeneration and Trans-Neuronal Alterations in Cerebellum and Retina of SCA7 Transgenic Mice. Hum. Mol. Genet. 9(17), 2491-2506.
220. A.R. La Spada, Y.H. Fu, et al. (2001) Polyglutamine-Expanded Ataxin-7 Antagonizes CRX Function and Induces Cone-Rod Dystrophy in a Mouse Model of SCA7. Neuron 31(6), 913-927.
221. G.A. Garden and A.R. La Spada (2008) Molecular Pathogenesis and Cellular Pathology of Spinocerebellar Ataxia Type 7 Neurodegeneration. Cerebellum 7(2), 138-149.
222. S.L. Sanders, J. Jennings, et al. (2002) Proteomics of the Eukaryotic Transcription Machinery: Identification of Proteins Associated with Components of Yeast TFIID by Multidimensional Mass Spectrometry. Mol. Cell. Biol. 22(13), 4723-4738.
223. D. Helmlinger, S. Hardy, et al. (2004) Ataxin-7 Is a Subunit of GCN5 Histone Acetyltransferase-Containing Complexes. Hum. Mol. Genet. 13(12), 1257-1265.
224. V.B. Palhan, S. Chen, et al. (2005) Polyglutamine-Expanded Ataxin-7 Inhibits STAGA Histone Acetyltransferase Activity to Produce Retinal Degeneration. Proc. Natl. Acad. Sci. U.S.A. 102(24), 8472-8477.
225. H. Ito, H. Kawakami, et al. (2006) Clinicopathologic Investigation of a Family with Expanded SCA8 CTA/CTG Repeats. Neurology 67(8), 1479-1481.
226. Y. Ikeda, J.C. Dalton, et al. (2004) Spinocerebellar Ataxia Type 8: Molecular Genetic Comparisons and Haplotype Analysis of 37 Families with Ataxia. Am. J. Hum. Genet. 75(1), 3-16.
227. J.W. Day, L.J. Schut, et al. (2000) Spinocerebellar Ataxia Type 8: Clinical Features in a Large Family. Neurology 55(5), 649-657.
228. V. Juvonen, M. Hietala, et al. (2000) Clinical and Genetic Findings in Finnish Ataxia Patients with the Spinocerebellar Ataxia 8 Repeat Expansion. Ann. Neurol. 48(3), 354-361.
229. M.D. Koob, M.L. Moseley, et al. (1999) The SCA8 Transcript is an Antisense RNA to a Brain-Specific Transcript Encoding a Novel Actin-Binding Protein (KLHL1). Am. J. Hum. Genet. Suppl. 65(4), A30.
230. M.L. Moseley, T. Zu, et al. (2006) Bidirectional Expression of CUG and CAG Expansion Transcripts and Intranuclear Polyglutamine Inclusions in Spinocerebellar Ataxia Type 8. Nat. Genet. 38(7), 758-769.
231. R.S. Daughters, D.L. Tuttle, et al. (2009) RNA Gain-of-Function in Spinocerebellar Ataxia Type 8. PLoS Genet. 5(8), e1000600.
232. K.A. Dick, J.M. Margolis, et al. (2006) Dominant Non-Coding Repeat Expansions in Human Disease. Genome Dyn. 1 67-83.
233. Y. Izumi, H. Maruyama, et al. (2003) SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including those with SCA6. Am. J. Hum. Genet. 72(3), 704-709.
234. A. Sulek, D. Hoffman-Zacharska, et al. (2003) SCA8 Repeat Expansion Coexists with SCA1—not only with SCA6. Am. J. Hum. Genet. 73(4), 972-974.
235. E. Cellini, S. Piacentini, et al. (2002) A Family with Spinocerebellar Ataxia Type 8 Expansion and Vitamin E Deficiency Ataxia. Arch. Neurol. 59(12), 1952-1953.
236. M.J. Sobrido, J.A. Cholfin, et al. (2001) SCA8 Repeat Expansions in Ataxia: A Controversial Association. Neurology 57(7), 1310-1312.
237. L. Schols, I. Bauer, et al. (2003) Do CTG Expansions at the SCA8 Locus Cause Ataxia? Ann. Neurol. 54(1), 110-115.
238. P.F. Worth, H. Houlden, et al. (2000) Large, Expanded Repeats in SCA8 Are Not Confined to Patients with Cerebellar Ataxia. Nat. Genet. 24(3), 214-215.
239. R.P. Grewal, E. Tayag, et al. (1998) Clinical and Genetic Analysis of a Distinct Autosomal Dominant Spinocerebellar Ataxia. Neurology 51(5), 1423-1426.
240. K. Matsuura, B. Zhang, et al. (2002) Topographic Map Reorganization in Cat Area 17 After Early Monocular Retinal Lesions. Vis. Neurosci. 19(1), 85-96.
241. T. Matsuura, M. Achari, et al. (1999) Mapping of the Gene for a Novel Spinocerebellar Ataxia with Pure Cerebellar Signs and Epilepsy. Ann. Neurol. 45(3), 407-411.
242. T. Matsuura, T. Yamagata, et al. (2000) Large Expansion of the ATTCT Pentanucleotide Repeat in Spinocerebellar Ataxia Type 10. Nat. Genet. 26(2), 191-194.
243. P. Marz, A. Probst, et al. (2004) Ataxin-10, the Spinocerebellar Ataxia Type 10 Neurodegenerative Disorder Protein, is Essential for Survival of Cerebellar Neurons. J. Biol. Chem. 279(34), 35542-35550.
244. H. Houlden, J. Johnson, et al. (2007) Mutations in TTBK2, Encoding a Kinase Implicated in Tau Phosphorylation, Segregate with Spinocerebellar Ataxia Type 11. Nat. Genet. 39(12), 1434-1436.
245. P.F. Worth, P. Giunti, et al. (1999) Autosomal Dominant Cerebellar Ataxia Type III: Linkage in a Large British Family to a 7.6-cM Region on Chromosome 15q14-21.3. Am. J. Hum. Genet. 65(2), 420-426.
246. S.E. Holmes, E.E. O’Hearn, et al. (1999) Expansion of a Novel CAG Trinucleotide Repeat in the 5′ Region of PPP2R2B is Associated with SCA12. Nat. Genet. 23(4), 391-392.
247. E. O’Hearn, S.E. Holmes, et al. (2001) SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion. Neurology 56(3), 299-303.
248. S.E. Holmes, E. O’Hearn, et al. (2003) Why Is SCA12 Different from Other SCAs? Cytogenet Genome Res. 100(1–4), 189-197.
249. A.K. Srivastava, S. Choudhry, et al. (2001) Molecular and Clinical Correlation in Five Indian Families with Spinocerebellar Ataxia 12. Ann Neurol 50(6), 796-800.
250. R.K. Dagda, R.A. Merrill, et al. (2008) The Spinocerebellar Ataxia 12 Gene Product and Protein Phosphatase 2A Regulatory Subunit Bbeta2 Antagonizes Neuronal Survival by Promoting Mitochondrial Fission. J. Biol. Chem. 283(52), 36241-36248.
251. A. Herman-Bert, G. Stevanin, et al. (2000) Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation. Am. J. Hum. Genet. 67(1), 229-235.
252. M.F. Waters, D. Fee, et al. (2005) An Autosomal Dominant Ataxia Maps to 19q13: Allelic Heterogeneity of SCA13 or Novel Locus? Neurology 65(7), 1111-1113.
253. M.F. Waters, N.A. Minassian, et al. (2006) Mutations in Voltage-Gated Potassium Channel KCNC3 Cause Degenerative and Developmental Central Nervous System Phenotypes. Nat. Genet. 38(4), 447-451.
254. H.K. Chen, P. Fernandez-Funez, et al. (2003) Interaction of Akt-Phosphorylated Ataxin-1 with 14-3-3 Mediates Neurodegeneration in Spinocerebellar Ataxia Type 1. Cell 113(4), 457-468.
255. B.P. van de Warrenburg, D.S. Verbeek, et al. (2003) Identification of a Novel SCA14 Mutation in a Dutch Autosomal Dominant Cerebellar Ataxia Family. Neurology 61(12), 1760-1765.
256. I. Yabe, H. Sasaki, et al. (2003) Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C Gamma. Arch. Neurol. 60(12), 1749-1751.
257. Z. Brkanac, L. Bylenok, et al. (2002) A New Dominant Spinocerebellar Ataxia Linked to Chromosome 19q13.4-qter. Arch. Neurol. 59(8), 1291-1295.
258. I. Yamashita, H. Sasaki, et al. (2000) A Novel Locus for Dominant Cerebellar Ataxia (SCA14) Maps to a 10.2-cM Interval Flanked by D19S206 and D19S605 on Chromosome 19q13.4-qter. Ann. Neurol. 48(2), 156-163.
259. K. Hara, T. Fukushima, et al. (2004) Japanese SCA Families with an Unusual Phenotype Linked to a Locus Overlapping with SCA15 Locus. Neurology 62(4), 648-651.
260. M.A. Knight, M.L. Kennerson, et al. (2003) Spinocerebellar Ataxia Type 15 (sca15) Maps to 3p24.2-3pter: Exclusion of the ITPR1 Gene, the Human Orthologue of an Ataxic Mouse Mutant. Neurobiol. Dis. 13(2), 147-157.
261. Y. Miyoshi, T. Yamada, et al. (2001) A Novel Autosomal Dominant Spinocerebellar Ataxia (SCA16) Linked to Chromosome 8q22.1-24.1. Neurology 57(1), 96-100.
262. E. Storey, R.J. Gardner, et al. (2001) A New Autosomal Dominant Pure Cerebellar Ataxia. Neurology 57(10), 1913-1915.
263. K. Hara, A. Shiga, et al. (2008) Total Deletion and a Missense Mutation of ITPR1 in Japanese SCA15 Families. Neurology 71(8), 547-551.
264. A. Iwaki, Y. Kawano, et al. (2008) Heterozygous Deletion of ITPR1, but not SUMF1, in Spinocerebellar Ataxia Type 16. J. Med. Genet. 45(1), 32-35.
265. K. Nakamura, S.Y. Jeong, et al. (2001) SCA17, A Novel Autosomal Dominant Cerebellar Ataxia Caused by an Expanded Polyglutamine in TATA-Binding Protein. Hum. Mol. Genet. 10(14), 1441-1448.
266. G. Stevanin and A. Brice (2008) Spinocerebellar Ataxia 17 (SCA17) and Huntington’s Disease-Like 4 (HDL4). Cerebellum 7(2), 170-178.
267. S.A. Schneider, B.P. van de Warrenburg, et al. (2006) Phenotypic Homogeneity of the Huntington Disease-Like Presentation in a SCA17 Family. Neurology 67(9), 1701-1703.
268. F. Maltecca, A. Filla, et al. (2003) Intergenerational Instability and Marked Anticipation in SCA-17. Neurology 61(10), 1441-1443.
269. M.J. Friedman, A.G. Shah, et al. (2007) Polyglutamine Domain Modulates the TBP-TFIIB Interaction: Implications for its Normal Function and Neurodegeneration. Nat. Neurosci. 10(12), 1519-1528.
270. A. Rolfs, A.H. Koeppen, et al. (2003) Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17). Ann. Neurol. 54(3), 367-375.
271. Z. Brkanac, D. Spencer, et al. (2009) IFRD1 is a Candidate Gene for SMNA on Chromosome 7q22-q23. Am. J. Hum. Genet. 84(5), 692-697.
272. H.J. Schelhaas and B.P. van de Warrenburg (2005) Clinical, Psychological, and Genetic Characteristics of Spinocerebellar Ataxia Type 19 (SCA19). Cerebellum 4(1), 51-54.
273. D.S. Verbeek, J.H. Schelhaas, et al. (2002) Identification of a Novel SCA Locus ( SCA19) in a Dutch Autosomal Dominant Cerebellar Ataxia Family on Chromosome Region 1p21-q21. Hum. Genet. 111(4-5), 388-393.
274. A.M. Duenas, R. Goold, et al. (2006) Molecular Pathogenesis of Spinocerebellar Ataxias. Brain 129(Pt 6), 1357-1370.
275. M.A. Knight, R.J. Gardner, et al. (2004) Dominantly Inherited Ataxia and Dysphonia with Dentate Calcification: Spinocerebellar Ataxia Type 20. Brain 127(Pt 5), 1172-1181.
276. D. Devos, S. Schraen-Maschke, et al. (2001) Clinical Features and Genetic Analysis of a New Form of Spinocerebellar Ataxia. Neurology 56(2), 234-238.
277. I. Vuillaume, D. Devos, et al. (2002) A New Locus for Spinocerebellar Ataxia (SCA21) Maps to Chromosome 7p21.3-p15.1. Ann. Neurol. 52(5), 666-670.
278. M.Y. Chung, Y.C. Lu, et al. (2003) A Novel Autosomal Dominant Spinocerebellar Ataxia (SCA22) Linked to Chromosome 1p21-q23. Brain 126(Pt 6), 1293-1299.
279. H.J. Schelhaas, D.S. Verbeek, et al. (2004) SCA19 and SCA22: Evidence for One Locus with a Worldwide Distribution. Brain 127(Pt 1), E6. author reply E7
280. D.S. Verbeek, B.P. van de Warrenburg, et al. (2004) Mapping of the SCA23 Locus Involved in Autosomal Dominant Cerebellar Ataxia to Chromosome Region 20p13-12.3. Brain 127(Pt 11), 2551-2557.
281. G. Stevanin, N. Bouslam, et al. (2004) Spinocerebellar Ataxia with Sensory Neuropathy (SCA25) Maps to Chromosome 2p. Ann. Neurol. 55(1), 97-104.
282. G.Y. Yu, M.J. Howell, et al. (2005) Spinocerebellar Ataxia Type 26 Maps to Chromosome 19p13.3 Adjacent to SCA6. Ann. Neurol. 57(3), 349-354.
283. C. Cagnoli, C. Mariotti, et al. (2006) SCA28, A Novel Form of Autosomal Dominant Cerebellar Ataxia on Chromosome 18p11.22-q11.2. Brain 129(Pt 1), 235-242.
284. C. Mariotti, A. Brusco, et al. (2008) Spinocerebellar Ataxia Type 28: A Novel Autosomal Dominant Cerebellar Ataxia Characterized by Slow Progression and Ophthalmoparesis. Cerebellum 7(2), 184-188.
285. D. Di Bella, F. Lazzaro, et al. (2010) Mutations in the Mitochondrial Protease Gene AFG3L2 Cause Dominant Hereditary Ataxia SCA28. Nat. Genet. 42(4), 313-321.
286. F. Maltecca, R. Magnoni, et al. (2009) Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration. J. Neurosci. 29(29), 9244-9254.
287. T.E. Dudding, K. Friend, et al. (2004) Autosomal Dominant Congenital Non-Progressive Ataxia Overlaps with the SCA15 Locus. Neurology 63(12), 2288-2292.
288. E. Storey, M. Bahlo, et al. (2009) A New Dominantly Inherited Pure Cerebellar Ataxia, SCA 30. J. Neurol. Neurosurg. Psychiatry. 80(4), 408-411.
289. K. Ishikawa, S. Toru, et al. (2005) An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains. Am. J. Hum. Genet. 77(2), 280-296.
290. Y. Onodera, M. Aoki, et al. (2006) Clinical Features of Chromosome 16q22.1 Linked Autosomal Dominant Cerebellar Ataxia in Japanese. Neurology 67(7), 1300-1302.
291. K. Owada, K. Ishikawa, et al. (2005) A Clinical, Genetic, and Neuropathologic Study in a Family with 16q-Linked ADCA Type III. Neurology 65(4), 629-632.
292. N. Sato, T. Amino, et al. (2009) Spinocerebellar Ataxia Type 31 is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n. Am. J. Hum. Genet. 85(5), 544-557.
293. S. Nagafuchi, H. Yanagisawa, et al. (1994) Structure and Expression of the Gene Responsible for the Triplet Repeat Disorder, Dentatorubral and Pallidoluysian Atrophy (DRPLA). Nat. Genet. 8 177-182.
294. O. Onodera, M. Oyake, et al. (1995) Molecular Cloning of a Full-Length cDNA for Dentatorubral-Pallidoluysian Atrophy and Regional Expressions of the Expanded Alleles in the CNS. Am. J. Hum. Genet 57(5), 1050-1060.
295. K. Amiri, R.J. Hagerman, et al. (2008) Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene. Arch. Neurol. 65(1), 19-25.
296. R.J. Hagerman, B.R. Leavitt, et al. (2004) Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation. Am. J. Hum. Genet. 74(5), 1051-1056.
297. R.J. Hagerman, M. Leehey, et al. (2001) Intention Tremor, Parkinsonism, and Generalized Brain Atrophy in Male Carriers of Fragile X. Neurology 57(1), 127-130.
298. B.A. Oostra and R. Willemsen (2003) A Fragile Balance: FMR1 Expression Levels. Hum. Mol. Genet. 12(2), R249-R257.
299. P. Jin, D.C. Zarnescu, et al. (2003) RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila. Neuron 39(5), 739-747.
300. R. Willemsen, M. Hoogeveen-Westerveld, et al. (2003) The FMR1 CGG Repeat Mouse Displays Ubiquitin-Positive Intranuclear Neuronal Inclusions; Implications for the Cerebellar Tremor/Ataxia Syndrome. Hum. Mol. Genet. 12(9), 949-959.
301. K. Doh-ura, J. Tateishi, et al. (1989) Pro ∅ Leu change at Postion 102 of Prion Protein is the Most Common but not the Sole Mutation Related to Gerstmann–Sträussler Syndrome. Biochem. Biophys. Res. Commun 163 974-979.
302. K. Hsiao, H.F. Baker, et al. (1989) Linkage of a Prion Protein Missense Variant to Gerstmann–Straussler Syndrome. Nature 338(6213), 342-345.
303. S.B. Prusiner and K.K. Hsiao (1994) Human Prion Diseases. Ann. Neurol. 35(4), 385-395.
304. J.C. Jen, T.D. Graves, et al. (2007) Primary Episodic Ataxias: Diagnosis, Pathogenesis and Treatment. Brain 130(Pt 10), 2484-2493.
305. D.L. Browne, S.T. Gancher, et al. (1994) Episodic Ataxia/Myokymia Syndrome is Associated with Point Mutations in the Human Potassium Channel Gene, KCNA1. Nat. Genet. 8 136-140.
306. H. Scheffer, E.R. Brunt, et al. (1998) Three Novel KCNA1 Mutations in Episodic Ataxia Type I Families. Hum. Genet. 102(4), 464-466.
307. P.S. Herson, M. Virk, et al. (2003) A Mouse Model of Episodic Ataxia Type-1. Nat. Neurosci. 6(4), 378-383.
308. F. Riant, R. Mourtada, et al. (2008) Large CACNA1A Deletion in a Family with Episodic Ataxia Type 2. Arch. Neurol. 65(6), 817-820.
309. S.D. Spacey, M.E. Hildebrand, et al. (2004) Functional Implications of a Novel EA2 Mutation in the P/Q-Type Calcium Channel. Ann. Neurol. 56(2), 213-220.
310. J. Wan, J.R. Carr, et al. (2005) Nonconsensus Intronic Mutations Cause Episodic Ataxia. Ann. Neurol. 57(1), 131-135.
311. A. Escayg, M. De Waard, et al. (2000) Coding and Noncoding Variation of the Human Calcium-Channel Beta-4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia. Am. J. Hum. Genet. 66(5), 1531-1539.
312. D.M. Kullmann (2002) The Neuronal Channelopathies. Brain 125(Pt 6), 1177-1195.
313. M. Strupp, R. Kalla, et al. (2004) Treatment of Episodic Ataxia Type 2 with the Potassium Channel Blocker 4-Aminopyridine. Neurology 62(9), 1623-1625.
314. J.L. Steckley, G.C. Ebers, et al. (2001) An Autosomal Dominant Disorder with Episodic Ataxia, Vertigo, and Tinnitus. Neurology 57(8), 1499-1502.
315. M.Z. Cader, J.L. Steckley, et al. (2005) A Genome-Wide Screen and Linkage Mapping for a Large Pedigree with Episodic Ataxia. Neurology 65(1), 156-158.
316. T.W. Farmer and V.M. Mustian (1963) Vestibulocerebellar Ataxia. A Newly Defined Hereditary Syndrome with Periodic Manifestations. Arch. Neurol. 8 471-480.
317. K.F. Damji, R.R. Allingham, et al. (1996) Periodic Vestibulocerebellar Ataxia, an Autosomal Dominant Ataxia with Defective Smooth Pursuit, is Genetically Distinct from other Autosomal Dominant Ataxias. Arch. Neurol. 53(4), 338-344.
318. A. Herrmann, G.J. Braathen, et al. (2005) Episodic Ataxias. Tidsskr. Nor. Laegeforen. 125(15), 2005-2007.
319. J.C. Jen, J. Wan, et al. (2005) Mutation in the Glutamate Transporter EAAT1 Causes Episodic Ataxia, Hemiplegia, and Seizures. Neurology 65(4), 529-534.
320. K.A. Kerber, J.C. Jen, et al. (2007) A New Episodic Ataxia Syndrome with Linkage to Chromosome 19q13. Arch. Neurol. 64(5), 749-752.
321. R. Lutz, J. Bodensteiner, et al. (1989) X-Linked Olivopontocerebellar Atrophy. Clin. Genet. 35(6), 417-422.
322. P.J. Spira, J.G. McLeod, et al. (1979) A Spinocerebellar Degeneration with X-Linked Inheritance. Brain 102(1), 27-41.
323. S. Apak, M. Yuksel, et al. (1989) Heterogeneity of X-Linked Recessive (Spino) Cerebellar Ataxia with or without Spastic Diplegia. Am. J. Med. Genet. 34 155-158. Abstract
324. W.F.M. Arts, M.C.B. Loonen, et al. (1993) X-Linked Ataxia, Weakness, Deafness, and Loss of Vision in Early Childhood with a Fatal Course. Ann. Neurol. 33 535-539.
325. M.R. Farlow, W. DeMyer, et al. (1987) X-Linked Recessive Inheritance of Ataxia and Adult-Onset Dementia: Clinical Features and Preliminary Linkage Analysis. Neurology 37(4), 602-607.
326. W.H. Raskind, C.A. Williams, et al. (1991) Complete Deletion of the Proteolipid Protein Gene (PLP) in a Family with X-Linked Pelizaeus–Merzbacher Disease. Am. J. Hum. Genet. 49(6), 1355-1360.
327. S. Bekri, G. Kispal, et al. (2000) Human ABC7 Transporter: Gene Structure and Mutation Causing X-Linked Sideroblastic Anemia with Ataxia with Disruption of Cytosolic Iron–Sulfur Protein Maturation. Blood 96(9), 3256-3264.
328. H. Kremer, B.C. Hamel, et al. (1996) Localization of the Gene (or Genes) for a Syndrome with X-Linked Mental Retardation, Ataxia, Weakness, Hearing Impairment, Loss of Vision and a Fatal Course in Early Childhood. Hum. Genet. 98(5), 513-517.
329. V. Tiranti, C. Galimberti, et al. (1999) Characterization of SURF-1 Expression and Surf-1p Function in Normal and Disease Conditions. Hum. Mol. Genet. 8(13), 2533-2540.
330. Z. Zhu, J. Yao, et al. (1998) SURF1, Encoding a Factor Involved in the Biogenesis of Cytochrome c Oxidase, is Mutated in Leigh Syndrome. Nat. Genet. 20(4), 337-343.
331. L.A. Pennacchio, A.-E. Lehesjoki, et al. (1996) Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1). Science 271 1731-1734.
332. P. Kazemi-Esfarjani and S. Benzer (2000) Genetic Suppression of Polyglutamine Toxicity in Drosophila. Science 287(5459), 1837-1840.
333. J.M. Warrick, H.Y. Chan, et al. (1999) Suppression of Polyglutamine-Mediated Neurodegeneration in Drosophila by the Molecular Chaperone HSP70. Nat. Genet. 23(4), 425-428.
334. G. Stevanin, A. Durr, et al. (2000) Clinical and Molecular Advances in Autosomal Dominant Cerebellar Ataxias: From Genotype to Phenotype and Physiopathology. Eur. J. Hum. Genet. 8(1), 4-18.
335. A.E. Harding (1981) Early Onset Cerebellar Ataxia with Retained Deep Tendon Reflexes: A Clinical and Genetic Study of a Disorder Distinct from Friedreich’s Ataxia. J. Neurol. Neurosurg. Psychiat 44 503-508.
336. K. Nikali, J. Isosomppi, et al. (1997) Toward Cloning of a Novel Ataxia Gene: Refined Assignment and Physical Map of the IOSCA Locus (SCA8) on 10q24. Genomics 39(2), 185-191.
337. http://www.ncbi.nlm.nih.gov/omimOnline Mendelian Inheritance in Man. This is the premiere web site for genetic information and references to original scientific publications across the spectrum of human genetic diseases.
338. http://www.ncbi.nlm.nih.gov/sites/GeneTests/The GeneTests Web-site is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers.
339. http://www.uptodate.com/indexA subscription-based website that serves as an on-line text book. This is written by experts and is constantly updated.
340. http://clinicaltrials.gov/This website provides a registry of federally and privately supported clinical trials conducted in the United States and around the world.
341. http://www.ataxia.org/This is the official website of the National Ataxia Foundation. This is an excellent site to refer patients and families suffering from rare ataxias to learn more about the disease.