The spinocerebellar ataxias: Clinical aspects and molecular genetics

Advances in Experimental Medicine and Biology

Volumn 724, Issue , 2012, Pages 351-374

  Matilla Dueñas, Antoni ^a   Corral Juan, Marc ^a   Volpini, Victor ^b   Sanchez, Ivelisse ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AFG3L2 GENE; ARTICLE; ATXN1 GENE; ATXN10 GENE; ATXN2 GENE; ATXN8OS GENE; CACNA1A GENE; CAG REPEAT; CLINICAL FEATURE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INOSITOL TRIPHOSPHATE RECEPTOR TYPE I GENE; INTERFERON RELATED DEVELOPMENTAL REGULATOR 1 GENE; KCNC3 GENE; MUTATIONAL ANALYSIS; PHYSIOTHERAPY; PPP2R2B GENE; PRIORITY JOURNAL; PROTEIN KINASE C GAMMA TYPE GENE; SEQUENCE ANALYSIS; SPEECH THERAPY; SPINOCEREBELLAR ATAXIA TYPE 4 GENE; SPINOCEREBELLAR DEGENERATION; SPTBN2 GENE; TAU TUBULIN KINASE 2 GENE; TBP GENE; CLASSIFICATION; GENETICS; MOLECULAR BIOLOGY; PATHOPHYSIOLOGY; REVIEW;

NERVE PROTEIN;

HUMANS; MOLECULAR BIOLOGY; NERVE TISSUE PROTEINS; SPINOCEREBELLAR ATAXIAS;

EID: 84859485353     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0653-2_27     Document Type: Article

References (118)

1. Zoghbi HY, Qrr HT. Spinocerebellar ataxias. In: Scriver CR, Sly WS, Childs AL et al, eds. The Metabolic and Molecular Basis oflnherited Disease. New York: MaGraw Professionals, 2001:5741-5758.
2. Matilla-Duenas A, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006: 129:1357-1370.
3. Soong BW, Paulson HL. Spinocerebellar ataxias: an update. Curr Qpin Neurol 2007: 20(4):438-446.
4. Manto M, Marmolino D. Cerebellar ataxias. Curr Qpin Neurol 2009: 22(4):419-429.
5. Matilla-Duenas A, Sanchez I, Corral-Juan M et al. Cellular and Molecular Pathways Triggering Neuro-degenerationinthe SpinocerebellarAtaxias. Cerebellum2010: 9(2):148-166.
6. McKusick V. Qnline Mendelian Inheritance in Man, QMIM (TM): McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library ofMedicine (Bethesda, MD), http://www.ncbi.nlm.nih.gov/omim/2010.
7. Pagon RA, Bird TC, Dolan CR et al. Gene Reviews [Internet]. Seattle: University of Washington, Seattle, 1993-2010.
8. Schmitz-Hubsch T, du Montcel ST, Baliko L et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006: 66(11):1717-1720.
9. Schmitz-Hubsch T, Coudert M, Bauer P et al. Spinocerebellar ataxia types 1, 2, 3 and 6: disease severity and nonataxia symptoms. Neurology 2008: 71(13):982-989.
10. Schmitz-Hubsch T, Fimmers R, Rakowicz M et al. Responsiveness of different rating instruments in spinocerebellar ataxiapatients. Neurology 2010: 74(8):678-684.
11. Sequeiros J, Martindale J, Seneca S. EMQN Best Practice Guidelines for molecular genetic testing of SCAs. EurJHumGenet2010: 18(11):1173-6.
12. Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet 2010: 18(11):1188-95.
13. Matilla-Duenas A, Goold R, Giunti P. Clinical, genetic, molecular and pathophysiological insights into spinocerebellar ataxiatype 1. Cerebellum 2008: 7(2):106-114.
14. Genis D, Matilla T, Volpini V et al. Clinical, neuropathologic and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 1995: 45(1):24-30.
15. Matilla T, Volpini V, Genis D et al. Presymptomatic analysis of spinocerebellar ataxia type 1(SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum Mol Genet 1993: 2(12):2123-2128.
16. Jodice C, MalaspinaP, Persichetti F et al. Effect of trinucleotide repeat length and parental sex onphenotypic variation in spinocerebellar ataxia 1. Am J Hum Genet 1994: 54:959-965.
17. Ranum LPW, Chung M-y, Banfi S et al. Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): evidence for familial effects on the age of onset. Am J Hum Genet 1994: 55:244-252.
18. Qrr HT, Zoghbi HY. SCA1 molecular genetics: a history of a 13 year collaboration against glutamines. Hum MolGenet2001: 10(20):2307-2311.
19. Goldfarb LG, Vasconcelos Q, Platonov FA et al. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxiatype 1. AnnNeurol 1996: 39(4):500-506.
20. Zuhlke C, Dalski A, Hellenbroich Y et al. Spinocerebellar ataxiatype 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 2002: 10(3):204-209.
21. Pulst SM. Spinocerebellar ataxia type 2 In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2006.
22. Lastres-Becker I, Rub U, Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum 2008: 7(2):115-124.
23. Qrozco G, Estrada R, Perry TL et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological and biochemical findings. J Neurol Sci 1989: 93:37-50.
24. Velazquez-Perez L, Seifried C, Santos-Falcon N et al. Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2.AnnNeurol 2004: 56(3):444-447.
25. Armstrong J, Bonaventura I, Rojo A et al. Spinocerebellar ataxia type 2 (SCA2) with white matter involvement. Neurosci Lett 2005; 381(3):247-251.
26. Filla A, De Michele G, Banfi S et al. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995; 45(4):793-796.
27. Flanigan K, Gardner K, Alderson K et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996; 59(2):392-399.
28. Hellenbroich Y, Bubel S, Pawlack H et al. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAGrepeat expansions in this region. JNeurol 2003; 250(6):668-671.
29. Hellenbroich Y, Gierga K, Reusche E et al. Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. J Neur Trans 2006; 113(7):829-843.
30. Ranum LPW, Schut LJ, Lundgren JK et al. Spinocerebellar ataxia type 5 in a family descended from the grandparents ofPresident Lincoln maps to chromosome 11. Nat Genet 1994; 8:280-284.
31. Ikeda Y, Dick KA, Weatherspoon MR et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet2006;38(2):184-190.
32. Gomez CM. Spinocerebellar ataxia type 6. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2008.
33. Yabe I, Sasaki H, Takeichi N et al. Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6). J Neurol 2003; 250(4):440-443.
34. Hashimoto T, Sasaki O, Yoshida K et al. Periodic alternatingnystagmus andreboundnystagmus in spinocerebellar ataxiatype6. MovDisord2003; 18(10):1201-1204.
35. Globas C, Bosch S, Zuhlke C et al. The cerebellum and cognition. Intellectual function in spinocerebellar ataxiatype6(SCA6).JNeurol2003; 250(12):1482-1487.
36. Gomez CM, Thompson RM, Gammack JT et al. Spinocerebellar ataxia type 6: gaze- evoked and vertical nystagmus, Purkinje cell degeneration and variable age of onset. Ann Neurol 1997; 42(6):933-950.
37. Sasaki H, Kojima H, Yabe I et al. Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6). ActaNeuropathol 1998; 95(2):199-204.
38. Ying SH, Choi SI, Lee M et al. Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6. Ann N Y Acad Sci 2005; 1039:430-435.
39. Khan NL, Giunti P, Sweeney MG et al. Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6). Mov Disord 2005; 20(9):1115-1119.
40. Takahashi H, Ishikawa K, Tsutsumi T et al. A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6. J Hum Genet 2004; 49(5):256-264.
41. Bird TD, Pagon RA, La Spada AR. Spinocerebellar ataxia type 7. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2007.
42. Garden GA, La Spada AR. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Cerebellum2008; 7(2):138-149.
43. Babovic-Vuksanovic D, Snow K, Patterson MC et al. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet 1998; 79(5):383-387.
44. Benton CS, de Silva R, Rutledge SL et al. Molecular and clinical studies in SCA-7 define a broad clinical spectrumandtheinfantilephenotype.Neurology 1998; 51(4):1081-1086.
45. Ansorge O, Giunti P, Michalik A et al. Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180CAG repeats. Ann Neurol 2004; 56(3):448-452.
46. Mittal U, Roy S, Jain S et al. Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family. J Hum Genet 2005; 50(3):155-157.
47. Ikeda S, Dalton JC, Day JW et al. Spinocerebellar ataxia type 8. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2007.
48. Ikeda Y, Daughters RS, Ranum LP. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum 2008; 7(2):150-158.
49. Ikeda Y, Dalton JC, Moseley ML et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004; 75(1):3-16.
50. Moseley ML, Schut LJ, Bird TD et al. SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet 2000; 9(14):2125-2130.
51. Worth PF, Houlden H, Giunti P et al. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet 2000; 24(3):214-215.
52. Sulek A, Hoffman-Zacharska D, Zdzienicka E et al. SCA8 repeat expansion coexists with SCA1-not only with SCA6. Am J Hum Genet 2003; 73(4):972-974.
53. Corral J, Genis D, Banchs I et al. Giant SCA8 alleles in nine children whose mother has two moderately large ones. Ann Neurol 2005; 57(4):549-553.
54. BabaY,UittiRJ,FarrerMJetal.AtypicalParkinsonismandSCA8. ParkinsonismRelatDisord2006; 12(6):396.
55. Ohnari K, Aoki M, Uozumi T et al. Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion. JNeurol Sci 2008; 273(1-2):15-18.
56. Munhoz RP, Teive HA, Raskin S et al. CTA/CTG expansions at the SCA 8 locus in multiple system atrophy. Clin Neurol Neurosurg 2009: 111(2):208-210.
57. Matsuura T, Yamagata T, Burgess DL et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000: 26(2):191-194.
58. LinX, AshizawaT. Recent progress in spinocerebellar ataxia type-10(SCA10). Cerebellum 2005:4(1):37-42.
59. Johnson J, Wood N, Giunti P etal. Clinical and genetic analysis of spinocerebellar ataxia type 11. Cerebellum 2008:7(2):159-164.
60. Worth PF, Giunti P, Gardner-Thorpe C etal. 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 1999: 65(2):420-426.
61. Houlden H, Johnson J, Gardner-Thorpe C et al. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxiatype 11. Nat Genet 2007: 39(12):1434-1436.
62. Margolis RL, Q'hearn E, Holmes SE et al. Spinocerebellar ataxia type 12. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2007.
63. Q'Hearn E, Holmes SE, Calvert PC et al. SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAGrepeat expansion. Neurology 2001: 56(3):299-303.
64. Srivastava AK, Choudhry S, Gopinath MS et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 2001: 50(6):796-800.
65. Brussino A, Graziano C, Giobbe D et al. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia. Mov Disord 2010: 25(9):1269-1273.
66. Fujigasaki H, Martin JJ, De Deyn PP et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 2001: 124(10):1939-1947.
67. Hellenbroich Y, Schulz-Schaeffer W, Nitschke MF et al. Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease. J Neurol Neurosurg Psychiatry 2004: 75(6):937-938.
68. Fujigasaki H, Verma IC, Camuzat A et al. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study ofan Indian family. Ann Neurol 2001: 49(1):117-121.
69. Holmes S, Q'Hearn E, Brachmachari S et al. SCA12. In: Pulst S, ed. Genetics ofMovement Disorders. San Diego: Academic Press, 2002.
70. Waters MF, Pulst SM. Sca13. Cerebellum 2008: 7(2):165-169.
71. Waters MF, Minassian NA, Stevanin G et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous systemphenotypes. Nat Genet 2006: 38(4):447-451.
72. Chen D-H, Bird TD, Raskind WH. Spinocerebellar ataxia type 14. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2010.
73. Chen DH, Brkanac Z, Verlinde CL et al. Missense Mutations in the Regulatory Domain of PKCgamma: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia. Am J Hum Genet 2003: 72(4):839-849.
74. Storey E. Spinocerebellar ataxia type 15. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2009.
75. Di Gregorio E, Qrsi L, Godani M et al. Two Italian families with ITPR1 gene deletion presenting a broader phenotype ofSCA15. Cerebellum: 9(1):115-123.
76. Toyoshima Y, Qnodera Q, Yamada M et al. Spinocerebellar ataxia type 17. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2007.
77. KoideR,KobayashiS, ShimohataTetal.Aneurologicaldiseasecausedby an expanded CAG trinucleotide repeat in the TATA-binding protein gene: anew polyglutamine disease? Hum Mol Genet 1999: 8(11):2047-2053.
78. Nakamura K, Jeong SY, Uchihara T et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expandedpolyglutamine in TATA-binding protein. Hum Mol Genet 2001: 10(14):1441-1448.
79. Maltecca F, Filla A, Castaldo I et al. Intergenerational instability and marked anticipation in SCA-17. Neurology 2003: 61(10):1441-1443.
80. Zuhlke CH, Spranger M, Spranger S et al. SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. Eur J Hum Genet 2003: 11(8):629-632.
81. Zuhlke C, Dalski A, Schwinger E et al. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet 2005: 6:27.
82. Gamez J, Sierra-Marcos A, Gratacos M et al. Camptocormia associated with an expanded allele in the TATA box-binding protein gene. Mov Disord 2010: 25(9):1293-1295.
83. Brkanac Z, Bylenok L, Fernandez M et al. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. ArchNeurol2002: 59(8):1291-1295.
84. Brkanac Z, Spencer D, Shendure J et al. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. AmJ Hum Genet 2009: 84(5):692-697.
85. Schelhaas HJ, Ippel PF, Hageman G et al. Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. JNeurol 2001: 248(2):113-120.
86. Chung MY, Lu YC, Cheng NC et al. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain2003: 126(Pt6):1293-1299.
87. Storey E, Knight MA, Forrest SM et al. Spinocerebellar ataxia type 20. Cerebellum 2005: 4(1):55-57.
88. Storey E. Spinocerebellar ataxia type 20. In: Pagon R, Bird T, Dolan C et al, eds. GeneReviews [Internet]. Seattle: University ofWashington, Seattle, 2009.
89. Knight MA, Gardner RJ, Bahlo M et al. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 2004; 127(Pt 5):1172-1181.
90. Coutinho P, Cruz VT, Tuna A et al. Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia. Arch Neurol 2006; 63 (4):553-555.
91. Knight MA, Hernandez D, Diede SJ et al. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet 2008; 17(24):3847-3853.
92. Devos D, Schraen-Maschke S, Vuillaume I et al. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 2001; 56(2):234-238.
93. Delplanque J, Devos D, Vuillaume I et al. Slowly progressive spinocerebellar ataxia with extrapyramidal signs andmild cognitive impairment (SCA21). Cerebellum 2008; 7(2):179-183.
94. Vuillaume I, Devos D, Schraen-Maschke S et al. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann Neurol 2002; 52(5):666-670.
95. Verbeek DS, van de Warrenburg BP, Wesseling P et al. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxiato chromosome region 20p13-12.3. Brain 2004; 127(Pt 11):2551-2557.
96. Verbeek DS. Spinocerebellar ataxiatype 23: a genetic update. Cerebellum 2009; 8(2):104-107.
97. Stevanin G, Broussolle E, Streichenberger N et al. Spinocerebellar ataxia with sensory neuropathy (SCA25). Cerebellum 2005; 4(1):58-61.
98. Yu GY, Howell MJ, Roller MJ et al. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.AnnNeurol 2005; 57(3):349-354.
99. van Swieten JC, Brusse E, de Graaf BM et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia. Am J Hum Genet 2003; 72(1):191-199.
100. Brusse E, de Koning I, Maat-Kievit A et al. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Mov Disord 2006; 21(3):396-401.
101. Dalski A, Atici J, Kreuz FR et al. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms inpatients with inherited ataxias. Eur J Hum Genet 2005; 13(1):118-120.
102. Misceo D, Fannemel M, Baroy T et al. SCA27 caused by a chromosome translocation: further delineation ofthephenotype. Neurogenetics 2009; 10(4):371-374.
103. Mariotti C, Brusco A, Di Bella D et al. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum 2008; 7(2):184-188.
104. Di Bella D, Lazzaro F, Brusco A et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 2010; 42(4):313-321.
105. Edener U, Wollner J, Hehr U et al. Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. Eur J Hum Genet 2010; 18(8):965-968.
106. Furman JM, Baloh RW, Chugani H et al. Infantile cerebellar atrophy. Ann Neurol 1985; 17(4):399-402.
107. Tomiwa K, Baraitser M, Wilson J. Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis. Pediatr Neurol 1987; 3(6):360-362.
108. Jen JC, Lee H, Cha YH et al. Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia. Neurology 2006; 67(9):1704-1706.
109. Dudding TE, Friend K, Schofield PW et al. Autosomal dominant congenital nonprogressive ataxia overlaps with the SCA15 locus. Neurology 2004; 63(12):2288-2292.
110. Storey E, Bahlo M, Fahey M et al. A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry 2009; 80(4):408-411.
111. Nagaoka U, Takashima M, Ishikawa K et al. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 2000; 54(10):1971-1975.
112. Owada K, Ishikawa K, Toru S et al. A clinical, genetic and neuropathologic study in a family with 16q-linked ADCA type III. Neurology 2005; 65(4):629-632.
113. Ishikawa K, Toru S, Tsunemi T et al. 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 2005; 77(2):280-296.
114. Ouyang Y, Sakoe K, Shimazaki H et al 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. J Neurol Sci 2006; 247(2):180-186.
115. Hirano R, Takashima H, Okubo R et al. Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan. J Hum Genet 2009; 54(7):377-381.
116. Sato N, Amino T,KobayashiKetal. Spinocerebellarataxiatype31isassociated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 2009; 85(5):544-557.
117. Hirayama K, Takayanagi T, Nakamura R et al. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol Scand Suppl 1994; 153:1-22.
118. Goizet C, Lesca G, Durr A. Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. Neurology 2002; 59(9):1330-1336.