Inherited Ataxias: An Introduction

Genetics of Movement Disorders

Volumn , Issue , 2003, Pages 19-34

  Pulst, Stefan M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84902406687     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012566652-7/50004-6     Document Type: Chapter

References (127)

1. Aicardi J., Barbosa C., Andermann E., Andermann F., Morcos R., Ghanem Q., Fukuyama Y., Awaya Y., Moe P. Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann. Neurol. 1988, 24:497-502.
2. Allikmets R., Raskind W.H., Hutchinson A., Schueck N.D., Dean M., Koeller D.M. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum. Mol. Genet. 1999, 8:743-749.
3. Bandmann O., Sweeney M.G., Daniel S.E., Wenning G.K., Quinn N., Marsden C.D., Wood N.W. Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration. Neurology 1997, 49:1598-1604.
4. Barbot C., Coutinho P., Chorao R., Ferreira C., Barros J., Fineza I., Dias K., Monteiro J., Guimaraes A., Mendonca P., do Ceu Moreira M., Sequeiros J. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients. Arch. Neurol. 2001, 58:201-205.
5. Barclay J., Balaguero N., Mione M., Ackerman S.L., Letts V.A., Brodbeck J., Canti C., Meir A., Page K.M., Kusumi K., Perez-Reyes E., Lander E.S., Frankel W.N., Gardiner R.M., Dolphin A.C., Rees M. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J. Neuroscii 2001, 2:6095-6104.
6. Basu P., Chattopadhyay B., Gangopadhaya P.K., Mukherjee S.C., Sinha K.K., Das S.K., Roychoudhury S., Majumder P.P., Bhattacharyya N.P. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1. SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum. Genet. 2000, 106:597-604.
7. Bell J. Dystrophia myotonica and allied diseases. Treasury of Human Inheritance 1947, Vol. 4:343-410. part 5, Cambridge University Press, Cambridge. L.S. Penrose (Ed.).
8. Bomont P., Watanabe M., Gershoni-Barush R., Shizuka M., Tanaka M., Sugano J., Guiraud-Chaumeil C., Koenig M. Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Euro. J. Hum. Genet. 2000, 8:986-990.
9. Bonini N.M. Drosophila as a genetic approach to human neurodegenerative disease. Parkinsonism Relat. Disord. 2001, 7:171-175.
10. Brodbeck J., Davies A., Courtney J.M., Meir A., Balaguero N., Canti C., Moss F.J., Page K.M., Pratt W.S., Hunt S.P., Barclay J., Rees M., Dolphin A.C. The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function. J. Bio. Chem. 2002, 277:7684-7693.
11. Burk K., Fetter M., Abele M., Laccone F., Brice A., Dichgans J., Klokgether T. Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J. Neurol. 1999, 246:789-797.
12. Buttner N., Geschwind D., Jen J.C., Perlman S., Pulst S.M., Baloh R.W. Oculomotor phenotypes in autosomal dominant ataxias. Arch. Neurol. 1998, 55:1353-1357.
13. Chen L., Chetkovich D.M., Petralia R.S., Sweeney N.T., Kawasaki Y., Wenthold R.J., Bredt D.S., Nicoll R.A. Stargazing regulates synaptic targeting of AMPA receptors by two distinct mechanisms. Nature 2000, 408:936-943.
14. Cholfin J.A., Sobrido M.J., Perlman S., Pulst S.M., Geschwind D.H. The SCA12 mutation is a rare cause of spinocerebellar ataxia. Arch. Neuro. 2001, in press.
15. Gossee M., Puccio H., Gansmuller A., Koutnikova H., Dierich A., LeMeu R.M., Fischbeck K., Dolle P., Koenig M. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum. Mol. Genet. 2000, 9:1219-1226.
16. Dai Z.H. Olivopontocerebellar atrophy:clinical analysis of 100 cases. (Article in Chinese). Zhonghua. Shen. Jing. Jing. Shen. Ke. Za. Zhi. 1991, 24:111-126.
17. Date H., Onodera O., Tanaka H., Iwabuchi K., Uekawa K., Igarashi S., Koike R., Hiroi T., Yuasa T., Awaya Y., Sakai T., Takahashi T., Nagatomo H., Sekijima Y., Kawachi I., Takiyama Y., Nishizawa M., Fukuhara N., Saito K., Sugano S., Tsuji S. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat. Genet. 2001, 29:184-188.
18. Devos D., Schraen-Maschke S., Vuillaume I., Dujardin K., Naze P., Willoteaux C., Destee A., Sablonniere B. Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 2001, 56:234-238.
19. Dürr A., Chneiweiss H., Khati C., Stevanin G., Cancel G., Feingold J., Agid Y., Brice A. Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 1993, 116:1497-1508.
20. Fernandez-Funez P., Nino-Rosales M.L., de Gouyon B., She W.C., Luchak J.M., Martinez P., Turiegano E., Benito J., Capovilla M., Skinner P.J., McCall A., Canal I., Orr H.T., Zoghbi H.Y., Botas J. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 2000, 408:101-106.
21. Fernandez-Gonzalez A., Spada A.R., Treadaway J., Higdon J.C., Harris B.S., Sidman R.L., Morgan J.I., Zuo J. Purkinje cell degeneration (ped) Phenotypes Caused by Mutations in the Axotomy-Induced Gene, Nna 1. Science 2002, 295:1904-1906.
22. Figueroa K.P., Chan P., Schöls L., Tanner C., Riess O., Perlman S.L., Geschwind D.H., Pulst S.M. Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. Arch. Neurol. 2001, 58:1649-1653.
23. Filla A., De Michele G., Marconi R., Bucci L., Carillo C., Castellano A.E., Iorio L., Kniahynicki C., Rossi F., Campanella G. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J. Neurol. 1992, 239:351-353.
24. Filla A., Mariotti C., Caruso G., Coppola G., Cocozza S., Castaldo I., Calabrese O., Salvatore E., De Michele G., Riggio M.C., Pareyson D., Gellera C., Di Donato S. Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families. Eur. Neurol. 2000, 44:31-36.
25. Flanigan K., Gardner K., Alderson K., Galster B., Otterud B., Leppert M.F., Kaplan C., Ptacek L.J. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16p22.1. Am. J. Hum. Genet. 1996, 59:392-399.
26. Flanigan K.M., Coffeen C.M., Sexton L., Stauffer D., Brunner S., Leppert M.F. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul. Disorder 2001, 11:525-529.
27. Fletcher C.F., Lutz C.M., O'Sullivan T.N., Shaughnessy J.D., Hawkes R., Frankel W.N., Copeland N.G., Jenkins N.A. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996, 87:607-617.
28. Futamura N., Matsumura R., Fujimoto Y., Horikawa H., Suzumura A., Takayanagi T. CAG repeat expansions in patients with sporadic cerebellar ataxia. Acta. Neurol. Scand. 1998, 98:55-59.
29. Gaspar C., Lopes-Cendes I., Hayes S., Goto J., Arvidsson K., Dias A., Silveira I., Maciel P., Coutinho P., Lima M., Zhou Y.X., Soong B.W., Watanabe M., Giunti P., Stevanin G., Riess O., Sasaki H., Hsieh M., Nicholson G.A., Brunt E., Higgins J.J., Lauritzen M., Tranebjaerg L., Volpini V., Wood N., Ranum L., Tsuji S., Brice A., Sequeiros J., Rouleau G.A. Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study. Am. J. Hum. Genet. 2001, 68:523-528.
30. Geschwind D.H., Perlman S., Figueroa C.P., Treiman L.J., Pulst S.M. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am. J. Hum. Genet. 1997, 60:842-850.
31. Geschwind D.H., Perlman S., Figueroa K.P., Karrim J., Baloh R.W., Pulst S.M. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlation. Neurology 1997, 49:1247-1251.
32. Geschwind D.H., Perlman S., Grody W.W., Telatar M., Montermini L., Pandolfo M., Gatti R.A. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia. Neurology 1997, 49:1004-1009.
33. Giuffrida S., Saponara R., Trovato Salinaro A., Restivo D.A., Domina E., Papotto M., Le Pira F., Nicoletti A., Trovato A., Condorelli D.F. Identification of SCA2 mutation in cases of spinocerebellar ataxia with no family history in mid-eastern Sicily. Ital. J. Neurol. Sci. 1999, 20:217-221.
34. Giunti P., Sabbadini G., Sweeney M.G., Davis M.B., Veneziano L., Mantuano E., Federico A., Plasmati R., Frontali M., Wood N.W. The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 1998, 121:459-467.
35. Gomez C.M. Inherited cerebellar ataxia. Current Therapy in neurologic diseases 2001, 292-298. Mosby, St. Louis. 6th edition. J.T. Johnson, J.W. Griffin, J.C. McArthur (Eds.).
36. Gudmundsson K.R. Prevalence and occurrence of some rare neurological diseases in Iceland. Acata. Neurol. Scand. 1969, 45:114-118.
37. Gunaratne P.H., Richards C.S. Estimated contribution of known ataxia genes in ataxia patients undergoing DNA testing. Genet. 1997, 1:275-278.
38. Harding A.E. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the "the Drew family of Walworth". Brain 1982, 105:1-28.
39. Harper P.S. Myotonic dystrophy as a trinucleotide repeat disorder-A clinical perspective. Genetic Instabilities and Hereditary Neurological Diseases 1998, 115-130. Academic Press, San Diego. R. Wells, S. Warren (Eds.).
40. Hedera P. Spastic paraplegia, ataxia, mental retardation (SPAR). A novel genetic disorder. Neurology 2002, 58:411-416.
41. Hsieh M., Lin S.J., Chen J.F., Lin H.M., Hsiao K.M., Li S.Y., Li C., Tsai C.J. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. J. Neurol. 2000, 247:623-629.
42. Higashiyama H., Hirose F., Yamaguchi M., Inoue Y.H., Fujikake N., Matsukage A., Kakizuka A. Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration. Cell Death Differ. 2002, 9:264-273.
43. Huynh D.P., Figueroa K., Hoang N., Pulst S.M. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat. Genet. 2000, 26:44-50.
44. Illarioshkin S.N., Slominsky P.A., Ovchinnikov I.V., Markova E.D., Miklina N.I., Klyushnikov S.A., Shadrina M., Vereshchagin N.V., Limborskaya S.A., Ivanova-Smolenskaya I.A. Spinocerebellar ataxia type 1 in Russia. J. Neurol. 1996, 243:506-510.
45. Jardim L.B., Silveira I., Pereira M.L., Ferro A., Alonso I., do Ceu Moreira M., Mendonca P., Ferreirinha F., Sequeiros J., Giugliani R. A survey of spinocerebellar ataxia in South Brazil-66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J. Neurol. 2001, 248:870-876.
46. Jin D.K., Oh M.R., Song S.M., Koh S.W., Lee M., Kim G.M., Lee W.Y., Chung C.S., Lee K.H., Im J.H., Lee M.J., Kim J.W., Lee M.S. Frequency of spinocerebellar ataxia types 1,2,3,6,7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J. Neurol. 1999, 246:207-210.
47. Jones J.G., Seltzer W.K. Mutation detection frequencies and allele size distributions for spinocerebellar and Friedreich's ataxia: A cumulative history of ataxia testing in a clinical reference laboratory. Neurology 2000, 54(Suppl. 3):A357.
48. Juvonen V., Hietala M., Paivarinta M., Rantamaki M., Hakamies L., Kaakkola S., Vierimaa O., Penttinen M., Savontau M.L. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. Ann. Neurol. 2000, 48:354-361.
49. Kazemi-Esfarjani P., Benzer S. Genetic suppression of polyglutamine toxicity in Drosophila. Science 2000, 287:1837-1840.
50. Kiehl R.T., Nechiporuk A., Shibata H., Pulst S.M. Knockout Models for Ataxin-2 and Ataxin-2-Binding-Protein: Gene Function, Developmental Genetics, and Clinical Relevance. Neurology 2000, 54:A464.
51. Kiehl T.R., Olson J.M., Pulst S.M. The Hereditary Disease Array Group (HDAG)-Microarrays, Models and Mechanisms: A Collaboration Update. Curr. Genomics 2001, 2:221-229.
52. Klement I.A., Skinner P.J., Kaytor M.D., Yi H., Hersch S.M., Clark H.B., Zoghbi H.Y., Orr H.T. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998, 95:41-53.
53. Klockgether T., Skalej M., Wedekind D., Luft A.R., Welte D., Schulz J.B., Abele M., Burk K., Laccone F., Brice A., Dichgans J. Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spino-cerebellar ataxia types 1, 2 and 3. Brain 1998, 121:1687-1693.
54. Komeichi K., Sasaki H., Yabe I., Yamashita I., Kikuchi S., Tashiro K. Twenty CAG repeats are sufficient to cause the SCA6 phenotype. J. Med. Genet. 2001, 38:E38.
55. Leggo J., Dalton A., Morrison P.J., Dodge A., Connarty M., Kotze M.J., Rubinsztein D.C. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J. Med. Genet. 1997, 34:982-985.
56. Leone M., Bottacchi E., D'Alessandro G., Kustermann S. Hereditary ataxias and paraplegias in Valle d'Aosta, Italy: a study of prevalence and disability. Acta. Neurol. Scand. 1995, 91:183-187.
57. Link C.D. Transgenic invertebrate models of age-associated neurodegenerative diseases. Mech. Ageing Dev. 2001, 122:1639-1649.
58. Lorenzetti D., Watas K., Xu B., Matzuk M.M., Orr H.T., Zoghbi H.Y. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Scal locus. Hum. Mol. Genet. 2002, 9:779-785.
59. Mariotti C., Gellera C., Grisoli M., Mineri R., Castucci A., Di Donato S. Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient. Neurology 2001, 57:1502-1504.
60. Marsh J.J., Walker H., Theisen H., Zhu Y.Z., Fielder T., Purcell J., Thompson L.M. Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurogegeneration in Drosophila. Hum. Mol. Genet. 2000, 9:13-25.
61. Matilla T., Volpini V., Genis D., Rosell J., Corral J., Davalos A., Molins A., Estivill X. 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, 12:2123-2128.
62. Matilla A., Roberson E.D., Banfi S., Morales J., Armstrong D.L., Burright E.N., Orr H.T., Sweatt J.D., Zoghbi H.Y., Matzuk M.M. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J. Neurosci. 1998, 18:5508-5516.
63. Matsuura T., Sasaki H., Yabe I., Hamada K., Hamada T., Shitara M., Tashiro K. Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2. J. Neurol. 1999, 246:835-839.
64. Matsumura R., Takayanagi T., Murata K., Futamura N., Fujimoto Y. Autosomal dominant cerebellar ataxias in the Kinki area of Japan. Jpn. J. Hum. Genet. 1996, 41:399-406.
65. Meijer I.A., Hand C.K., Cossette P., Figlewica D.A., Rouleau G.A. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch. Neurol. 2002, 59:281-286.
66. Meijer I., Hand C.K., Grewal K.K., Stefanelli M.G., Ives E.J., Rouleau G.A. Am. J. Hum. Genet. 2002, 70:763-769.
67. Melberg A., Hetta J., Dahl N., Nennesmo I., Bengtsson M., Wibom R., Grant C., Gustavson K.H., Lundberg P.O. Autosomal dominant cerebellar ataxia deafness and narcolepsy. J. Neurol. Sci. 1995, 134:119-129.
68. Merlini L., Gooding R., Lochmuller H., Muller-Felber W., Walter M.C., Angelicheva D., Talim B., Hallmayer J., Kalaydjieva L. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 2002, 58:231-236.
69. Miranda C.J., Santos M.M., Ohshima K., Smith J., Li L., Bunting M., Cossee M., Koenig M., Sequeiros J., Kaplan J., Pandolfo M. Frataxin knockin mouse. FEBS Lett. 2002, 512:291-297.
70. Miller V.M., Regagliati M.R., Paulson H.L. A zebafish model of polyglutamine disease. Soc. Neurosci. Abstr. 2001, 27:572.14.
71. Moreira M.C., Barbot C., Tachi N., Kozuka N., Uchida E., Givson T., Mendonca P., Costa M., Barros J., Yanagisawa T., Watanabe M., Ideda Y., Aoki M., Nagata T., Clutinho P., Sequeiros J., Koenig M. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat. Genet. 2001, 29:189-193.
72. Mori M., Adachi Y., Kusumi M., Nakashima K. Spinocerebellar ataxia type 6: founder effect in Western Japan. J. Neurol. Sci. 2001, 185:43-47.
73. Mori M., Adachi Y., Kusumi M., Nakashima K. A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture Japan. Neuroepidemiology 2001, 20:144-149.
74. Mori M., Adachi Y., Mori N., Kurihara S., Kashiwaya Y., Kusumi M., Takeshima T., Nakashima K. Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. J. Neurol. Sci. 2002, 195:149-152.
75. Moseley M.L., Benzow K.A., Schut L.J., Bird T.D., Gomez C.M., Barkhaus P.E., Blindauer K.A., Labuda M., Pandolfo M., Koob M.D., Ranum L.P. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998, 51:1666-1671.
76. Nemeth A.H., Bochukova E., Dunne E., Huson S.M., Elston J., Hanna M.A., Jackson M., Chapman C.J., Taylor A.M. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxiatelangiectasia-like syndrome) is linked to chromosome 9q34. Am. J. Hum. Genet. 2000, 67:1320-1326.
77. Nystuen A., Benke P.J., Merren J., Stone E.M., Sheffield V.C. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum. Mol. Genet. 1996, 5:525-531.
78. Onodera O., Idezuka J., Igarashi S., Takiyama Y., Endo K., Takano H., Oyake M., Tanaka H., Inuzuka T., Hayashi T., Yuasa T., Ito J., Miyatake T., Tsuji S. Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. Ann. Neurol. 1998, 43:288-296.
79. Onodera Y., Aoki M., Tsuda T., Kato H., Nagata T., Kameya T., Abe K., Itoyama Y. High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan. J. Neurol. Sci. 2000, 178:153-158.
80. Orr H.T., Chung M.Y., Banfi S., Kwiatkowski T.J., Servadio A., Beaudet A.L., McCall A.E., Duvick L.A., Ranum L.P., Zoghbi H.Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genetics 1993, 4:221-226.
81. Pareyson D., Gellera C., Castellotti B., Antonelli A., Riggio M.C., Mazzucchelli F., Girotti F., Pietrini V., Mariotti C., Di Donato S. Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type 1: SCA1 and SCA2 are the most common genotypes. J. Neurol. 1999, 246:389-393.
82. Park C., Finger J.H., Cooper J.A., Ackerman S.L. The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations. Genesis 2002, 32:32-41.
83. Parker J.A., Connolly J.B., Wellington C., Hayden M., Dausset J., Neri C. Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death. Proc. Natl. Acad. Sci. U.S.A. 2001, 98:13318-13323.
84. Penrose L.S. The problem of anticipation in pedigrees of dystrophia myotonical. Ann. Eugenics 1948, 14:125-132.
85. Perlman S.L. Gerebellar Ataxia. Curr. Treat. Options Neurol. 2000, 2:215-224.
86. Polo J.M., Calleja J., Combarros O., Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 1991, 114:855-866.
87. Puccio H., Simon D., Cossee M., Criqui-Filipe P., Tiziano F., Melki J., Hindelang C., Matyas R., Rustin P., Koening M. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat. Genet. 2001, 27:181-186.
88. Pujana M.A., Corral J., Gratacos M., Combarros O., Berciano J., Genis D., Banchs I., Estivill X., Volpini V. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group. Hum. Genet. 1999, 104:516-522.
89. Pulst S.M., Nechiporuk A., Starkman S. Anticipation in spinocerebellar ataxia type 2. Nat. Genetics 1993, 5:8-10.
90. Pulst S.M., Nechiporuk A., Nechiporuk T., Gispert S., Chen X.N., Lopes-Cendes I., Pearlman S., Starkman S., Orozco-Diaz G., Lunkes A., DeJong P., Rouleau G.A., Auburger G., Korenberg J.R., Figueroa C., Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genetics 1996, 14:237-238.
91. Pulst S.M., Perlman S.L. Hereditary ataxias. Neurogenetics 2000, 231-264. Oxford University Press, New York. S.M. Pulst (Ed.).
92. Ramesar R.S., Bardien S., Beighton P., Bryer A. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families. Hum. Genet. 1997, 100:131-137.
93. Raskind W.H., Pericak-Vance M.A., Lennon F., Wolff J., Lipe H.P., Bird T.D. Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am. J. Med. Genet. 1997, 74:26-36.
94. Riess O., Laccone F.A., Gispert S., Schöls L., Zuhlke C., Vieira-Saecker A.M., Herlt S., Wessel K., Epplen J.T., Weber B.H., Kreuz F., Chahrokh-Zadeh S., Meindl A., Lunkes A., Aguiar J., Macek M., Krebsova A., Macek M., Burk K., Tinschert S., Schreyer I., Pulst S.M., Auburger G. SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1997, 1:59-64.
95. Rosenberg R.N. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995, 45:1-5.
96. Rustin P., von Kleist-Retzow J.C., Chantrel-Groussard K., Sidi D., Munnich A., Rotig A. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999, 354:477-479.
97. Sasaki H., Yabe I., Yamashita I., Tashiro K. Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan. J. Neurol. Sci. 2000, 175:45-51.
98. Schöls L., Amoiridis G., Buttner T., Przuntek H., Epplen J.T., Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes. Ann. Neurol. 1997, 42:924-932.
99. Schöls L., Gispert S., Vorgerd M., Menezes Vieira-Saecker A.M., Blanke P., Auburger G., Amoiridis G., Meves S., Epplen J.T., Przuntek H., Pulst S.M., Riess O. Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds. Arch. Neurol. 1997, 54:1073-1080.
100. Schöls L., Kruger R., Amoiridis G., Przuntek H., Epplen J.T., Riess O. Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. J. Neurol. Neurosurg. Psychiatry 1998, 64:67-73.
101. Schöls L., Szymanski S., Peters S., Przuntek H., Epplen J.T., Hardt C., Riess O. Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum. Genet. 2000, 107:132-137.
102. Schöls L., Vorgerd M., Schillings M., Skipa G., Zange J. Idebenone in patients with Friedreich ataxia. Neurosci. Lett. 2001, 29:169-172.
103. Schulte T., Mattern R., Berger K., Szymansk i.S., Klotz P., Kraus P.H., Przuntek H., Schöls L. Double-blind crossover trial of trimethoprim-sulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease. Arch. Neurol. 2001, 58:1451-1457.
104. Shahbazian M.D., Orr H.T., Zoghbi H.Y. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol. Dis. 2001, 8:974-981.
105. Silveira I., Lopes-Cendes I., Kish S., Maciel P., Gaspar C., Coutinho P., Botez M.I., Teive H., Arruda W., Steiner C.E., Pinto-Junior W., Maciel J.A., Jerin S., Sack G., Andermann E., Sudarsky L., Rosenberg R., MacLeod P., Chitayat D., Babul R., Sequeiros J., Rouleau G.A. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996, 46:214-218.
106. Silveira I., Coutinho P., Maciel P., Gaspar C., Hayes S., Dias A., Guimaraes J., Loureiro L., Sequeiros J., Rouleau G.A. Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families. Am. J. Med. Genet. 1998, 81:134-138.
107. Sobrido M.J., Cholfin J.A., Perlman S., Pulst S.M., Geschwind D.H. SCA8 repeat length in patients with inherited and sporadic ataxia. Neurology 2001, in press.
108. Soong B.W., Lu Y.C., Choo K.B., Lee H.Y. Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. Arch. Neurol. 2001, 58:1105-1109.
109. Soto-Ares G., Vinchon M., Delmaire C., Abecidan E., Dhellemes P., Pruvo J.P. Cerebellar atrophy after severe traumatic head injury in children. Childs. Nerv. Syst. 2001, 17:263-269.
110. Steffan J.S., Bodai L., Pallos J., Poelmann M., McCampbell A., Apostol B.L., Kazantsev A., Schmidt E., Zhu Y.Z., Greenwald M., Kurokawa R., Housman D.E., Jackson G.R., Marsh J.L., Thompson L.M. Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 2001, 413:739-743.
111. Stevanin S., Durr A., Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur. J. Hum. Genet. 2000, 8:4-18. Review.
112. Storey E., Du Sart D., Shaw J.H., Lorentzos P., Kelly L., McKinley Gardner R.J., Forrest S.M., Biros I., Nicholson G.A. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am. J. Med. Genet. 2000, 95:351-357.
113. Storey E., Gardner R.J.M., Knight M.A., Kennerson M.L., Tuck R.R., Forrest S.M., Nichelson G.A. A new autosomal dominant ataxia. Neurology 2001, 57:1913-1915.
114. Takano H., Cancel G., Ikeuchi T., Lorenzetti D., Mawad R., Stevanin G., Didierjean O., Durr A., Oyake M., Shimohata T., Sasaki R., Koide R., Igarashi S., Hayashi S., Takiyama Y., Nishizawa M., Tanaka H., Zoghbi H., Brice A., Tsuji S. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am. J. Hum. Genet. 1998, 63:1060-1066.
115. Takiyama Y., Sakoe K., Nakano I., Nishizawa M. Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. Neurology 1997, 49:604-606.
116. Tan E.K., Law H.Y., Zhao Y., Lim E., Chan L.L., Chang H.M., Ng I., Wong M.C. Spinocerebellar ataxia in Singapore: predictive features of a positive DNA test?. Eur. Neurol. 2000, 44:168-171.
117. Tang B., Liu C., Shen L., Dai H., Pan Q., Jing L., Ouyang S., Xia J. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch. Neurol. 2000, 57:540-544.
118. van de Warrenburg B.P., Sinke R.J., Verschuuren-Bemelmans C.C., Scheffer H., Brunt E.R., Ippel P.F., Maat-Kievit J.A., Dooijes D., Notermans N.C., Lindhout D., Knoers N.V., Kremer H.P. Spinocerebellar ataxias in The Netherlands: Prevalence and age at onset variance analysis. Neurology 2002, 58:702-708.
119. Velazquez Perez L., De La Hoz Oliveras J., Perez Gonzalez R., Hechevarria Pupo R.R., Herrera Dominguez H. Quantitative evaluation of disorders of coordination in patients with cuban type 2 spinocerebellar ataxia. Rev. Neurol. 2001, 32:601-606.
120. Verbeek, D. S., Schelhaas, J. H., Ippel, E. F., Beemer, F. A., Pearson P. L., and Sinke, R. J. Identification of a novel SCA locus (SCA19) in Dutch Autosomal Dominant Cerebellar Ataxia (ADCA) family on chromosome region 1p21-q21. Ann. Neurol. in press.
121. Vig J.P., Subramony S.H., McDaniel D.O. Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1). Brain Res. Bull. 2001, 56:221-225.
122. Voikar V., Rauvala H., Ikonen E. Cognitive deficit and development of motor impairment in a mouse model of Niemann-Pick type C disease. Behav. Brain Res. 2002, 132:1-10.
123. Wadia N., Pang J., Desai J., Mankodi A., Desai M., Chamberlain S.A. Clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis. Brain 1998, 121:2341-2355.
124. Watanabe H., Tanaka F., Matsumoto M., Doyu M., Ando T., Mitsuma T., Sobue G. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clin. Genet. 1998, 53:13-19.
125. Yokota T., Igarashi K., Uchihara T., Jishage K., Tomita H., Inaba A., Li Y., Arita M., Suzuki H., Mizusawa H., Arai H. Delayedonset ataxia in mice lacking alpha-tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. Proc. Natl. Acad. Sci. U.S.A. 2001, 98:15185-15190.
126. Zhang S., Xu L., Lee J., Xu T. Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes. Cell 2002, 108:45-56.
127. Zoghbi H.Y. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology 1997, 49:1009-1013.