Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset

Annals of Neurology

Volumn 42, Issue 6, 1997, Pages 933-950

  Gomez, Christopher M ^a   Thompson, Randall M ^a   Gammack, Jason T ^b   Perlman, Susan L ^c   Dobyns, William B ^a,d   Truwit, Charles L ^a   Zee, David S ^e   Clark, H Brent ^a,d   Anderson, John H ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b PROMEGA CORPORATION   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BRAIN ATROPHY; BRAIN BIOPSY; CEREBELLAR ATAXIA; CHROMOSOME 19P; CLINICAL ARTICLE; CLINICAL FEATURE; EXTRAOCULAR MUSCLE; FEMALE; GAZE; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; MALE; NUCLEOTIDE REPEAT; NYSTAGMUS; PRIORITY JOURNAL; PURKINJE CELL; SPINOCEREBELLAR TRACT;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALLELES; EVOKED POTENTIALS, VISUAL; EYE MOVEMENTS; FEMALE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE DEGENERATION; NYSTAGMUS, PATHOLOGIC; PEDIGREE; PHENOTYPE; PURKINJE CELLS; SPINOCEREBELLAR DEGENERATIONS;

EID: 0031454530     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420616     Document Type: Article

References (46)

1. Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:211-226
2. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228
3. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276
4. Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, direct. Nat Genet 1996;14:277-284
5. Imbert G, Saudou F, Yvert G, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded cag/glutamine repeats. Nat Genet 1996;14:285-291
6. 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;59:392-399
7. Ranum LPW, Schut LJ, Lundgren JK, et al. A dominant spinocerebellar ataxia gene (SCA5) in a family descendent from the paternal grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280-284
8. Holmberg M, Johansson J, Forsgren L, et al. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 1995;4:1441-1445
9. Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995;10:89-93
10. Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995;10:84-88
11. Burk K, Abele M, Fetter M, et al. Autosomal dominant cerebellar ataxia type I - clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996;119:1497-1505
12. Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain 1994; 117:15-25
13. Anderson JH, Ranum LP, Schut LJ, Gomez CM. Vestibular and oculomotor abnormalities in genetically distinct autosomal dominant cerebellar ataxias. Soc Neurosci Abstr 1995;21:483 (Abstract)
14. Illarioshkin SN, Igarashi S, Onodera O, et al. Trinucleotide repeat length and rate of progression of Huntington's disease. Ann Neurol 1994;36:630-635
15. Kieburtz K, Macdonald M, Shih C, et al. Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet 1994;31:872-874
16. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69
17. Zee DS, Yee RD, Cogan DG, et al. Ocular motor abnormalities in hereditary cerebellar ataxia. Brain 1976;99:207-234
18. Robinson DA. A method for measuring eye movement using a scleral search coil in a magnetic field. IEEE Biomed Electronics 1963;10:137-145
19. O'Leary DP, Davis LL. High-frequency autorotational testing of the vestibulo-ocular reflex. Neurol Clin 1990;8:297-312
20. Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996; 87:543-552
21. Baskaran N, Kandpal RP, Bhargava AK, et al. Uniform amplification of a mixture of deoxyribonucleic acids with varying gc content. Genome Res 1996;6:633-638
22. Ashizawa T, Wong L, Richards CS, et al. Cag repeat size and clinical presentation in Huntington's disease. Neurology 1994; 44:1137-1143
23. Destefano AL, Cupples LA, Maciel P, et al. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet 1996;59:119-127
24. Catterall WA. Structure and function of voltage-gated ion channels. Annu Rev Biochem 1995;64:493-531
25. Elferink LA, Scheller RH. Synaptic vesicle proteins and regulated exocytosis. Prog Brain Res 1995;105:79-85
26. Baloh RW, Yue Q, Furman JM, Nelson SF. Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. Ann Neurol 1997;41:8-16
27. Stewart WF, Shechter A, Rasmussen BK. Migraine prevalence. A review of population-based studies. Neurology 1994;44 (6 Suppl 4):S17-S23
28. Zee DS, Friendlich AR, Robinson DA. The mechanism of downbeat nystagmus. Arch Neurol 1974;30:227-237
29. Ishikawa K, Mizusawa H, Saito M, et al. Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families. Brain 1996;119:1173-1182
30. Halmagyi GM, Rudge P, Gresty MA, Sanders MD. Downbeating nystagmus. A review of 62 cases. Arch Neurol 1983;40: 777-784
31. Baloh RW, Yee RD, Honrubia V. Late cortical cerebellar atrophy. Clinical and oculographic features. Brain 1986;109:159-180
32. Schut JW, Haymaker W. Hereditary ataxia: a pathologic study of five cases of common ancestry. J Neuropathol Clin Neurol 1951;1:183-213
33. Robitaille Y, Schut L, Kish SJ. Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol 1995;90:572-581
34. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 1993;61:139-153
35. Tsuchiya K, Wakabayashi M, Oyanagi S, et al. A Machado-Joseph disease in Japan: clinicopathological study of 6 autopsy cases with special reference to the clinicopathological correlation to cerebellar ataxia and lower motor neuron signs. Neuropathology 1994;14:13-36
36. Durr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996;39:490-499
37. Orozco 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
38. Subramony SH, Fratkin JD, Manyam BV, Currier RD. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentato-rubro-pallido-luysian atrophy locus. Mov Disord 1996;11:174-180
39. Leigh R, Zee DS. The neurology of eye movements. Philadelphia: FA Davis, 1991
40. Lewis RF, Zee DS. Ocular motor disorders associated with cerebellar lesions: pathophysiology and topical localization. Rev Neurol 1993;149:665-677
41. Zee DS, Yamazaki A, Butler PH, Gucer G. Effects of ablation of flocculus and paraflocculus of eye movements in primate. J Neurophysiol 1981;46:878-899
42. Angelati DE, Hess BJM. Vestibulo-ocular control by the cerebellar nodulo-uvular lobules. In: Delgado-Garcia JM, Godaux E, Vidal PP, eds. Information processing underlying gaze control. New York, Pergamon Press, 1994:403-413
43. Hoffman PM, Stuart WH, Earle KM, Brody JA. Hereditary late-onset cerebellar degeneration. Neurology 1971;21:771-777
44. Komure O, Sano A, Nishino N, et al. Dna analysis in hereditary dentatorubral-pallidoluysian atrophy - correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995;45:143-149
45. Ranum LP, Chung MY, Banfi S, et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet 1994;55:244-252
46. Maciel P, Gaspar C, Destefano AL, et al. Correlation between cag repeat length and clinical features in Machado-Joseph disease. Am Hum Genet 1995;57:54-61