Dominantly inherited ataxias

Seminars in Neurology

Volumn 19, Issue 4, 1999, Pages 419-425

  Subramony, S H ^a,b   Vig, P J S ^a   McDaniel, D O ^a  

^a UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

Author keywords

And degenerative ataxias; CAG expansions; Dominant; Inherited; Polyglutamine diseases

Indexed keywords

GENE PRODUCT; POLYGLUTAMINE; TRINUCLEOTIDE;

ATAXIA; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; NERVE CELL DEGENERATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TRINUCLEOTIDE REPEAT;

EID: 0033401393     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040856     Document Type: Review

References (48)

1. Marie P. Sur L'heredo-ataxie cerebelleuse. Sem Med (Paris) 1893;13:444-447
2. Bell J, Carmichael EA. On hereditary ataxia and spastic paraplegia. In: The Treasury of Human Inheritance, Vol. IV, Part III. Cambridge: Cambridge University Press, 1939:141-281
3. Schut JW. Hereditary ataxia: Clinical study through 6 generations. Arch Neurol Psychiatry 1950;63:535-568
4. Orr HT, Chung M-y, Banfi S, et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type I. Nature Genet 1993;4:221-226
5. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Nature Genetics 1996;14:269-276
6. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-228
7. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerevellar ataxia (SCA 6) associated with small polyglutamine expansion in the alpha 1A-voltage-dependent calcium channel. Nature Genet 1997;15:62-68
8. David G, Abbas N, Stevanin G, et al. Cloning of the SCA 7 gene reveals a highly unstable CAG repeat expansion. Nature Genet 1997;17:75-70
9. Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA 4): Clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996;59:392-399
10. Ranum LPW, Chung M-y, Banfi S, et al. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 1994;8:280-284
11. Browne DL, Cancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA 1. Nature Genet 1994;8:136-140
12. 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
13. Zoghbi HY, Sandkuyl LA, Ott J, et al. Assignment of autosomal dominant spinocerebellar ataxia (SCA 1) centrometic to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am J Hum Genet 1989;44:255-263
14. Dubourg O, Durr A, Cancel G, et al. Analysis of the SCA-1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations. Ann Neurol 1995;37:176-180
15. Filla A, De Michele G, Campanella G, et al. Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA 1 and SCA 2 phenotypes. J Neurological Sci 1996;142:140-147
16. Orozco G, Nodarse A, Cordoves RC, et al. Autosomal dominant cerevellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 1990;40: 1369-1375
17. Wadia N, Pang J, Desai J, et al. A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA 2) pedigrees. The significance of slow saccades in diagnosis. Brain 1998;121:2341-2355
18. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. In: Harding AE, Duefel T, eds. Advances in Neurology. New York: Raven Press, 1993:139-153
19. Matilla T, McCall A, Subramony SH, et al. Molecular clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995;38:68-72
20. Subramony SH, Fratkin JD, Manyam BV, et al. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia 1, Machado-Joseph disease, or dentatorubralpallidoluysian atrophy locus. Mov Disord 1996;11:174-180
21. 1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997;42:879-884
22. 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; 42:933-950
23. Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: A clinical and genetic study of eight families. Brain 1994;117:445-460
24. Ikeuchi T, Koide R, Tanaka H, et al. Dentatorubral-pallidoluysian atrophy (DRPLA). Clin Neurosci 1995;3:23-27
25. Griggs RC, Nutt JG. Episodic ataxias as channelopathies. Ann Neurol 1995;37:285-287
26. Klockgether T, Skalej M, Wedekind D, et al. Autosomal dominant cerebellar ataxia type I. MRI-based columetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 1998;121:1687-1693
27. Goldfarb LG, Vasconcelos O, Platonov FA, et al. Unstable triplet repeat and phenotypic variability of spino-cerebellar ataxia type 1. Ann Neurol 1996;39:500-506
28. 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. Nature Genet 1996;14:285-291
29. Sampei K, Takano H, Ifarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 1996;14:277-284
30. Watanabe M, Abe K, Aoki M, et al. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. J Neurologic Sci 1996;136:101-107
31. David G, Durr A, Stevanin G, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA 7). Hum Molecular Genet 1998;7: 165-170
32. Johansson J, Forsgren L, Sandgren O, et al. Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA 7) patients: Effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 1998;7:171-176
33. Sobue I, Takayanagi T, Nakanishi T, et al. Controlled trial of thyrotropin releasing hormone tartrate in ataxia of spinocerebellar degenerations. J Neurol Sci 1983;61:235-248
34. Trouillas P, Brudon F, Adeleine P. Improvement of cerebellar ataxia with levorotatary form of 5-hydroxytryptophan: A double-blind study with quantified data processing. Arch Neurol 1988;45:1217-1222
35. Botez MI, Young SN, Botez T. Treatment of heredo-degenerative ataxias with amantadine hydrochloride. Can J Neurol Sci 1991;18:307-311
36. Sakai T, Matsuishi T, Yamada S, et al. Sulfamethoxazole-trimethoprim double-blind, placebo-controlled, crossover trial in Machado-Joseph disease: Sulfamethoxazole-trimethoprim increases cerebrospinal fluid level of biopterin. J Neural Transm 1995;102:159-172
37. Lubbers WJ, Brunt ER, Scheffer H, et al. Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. J Neurol Neurosurg Psychiatry 1995;59:400-405
38. Ross CA. Intranuclear neuronal inclusions: A common pathogenic mechanism for glutamine-repeat neurodegenerative disease? Neuron 1997;19:1147-1150
39. Servadio S, Koshy B, Armstrong D, et al. Expression analysis of the ataxin 1 protein in tissues from normal and spinocerebellar ataxia type I individuals. Nature Genet 1997;389:971-978
40. Skinner PJ, Koshy BT, Cummings CJ, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-974
41. Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997;19:333-344
42. Holmberg M, Duyckaerts C, Durr A, et al. Spinocerebellar ataxia type 7 (SCA 7): A neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 1998;7:913-918
43. Becher MW, Rubinsztein DC, Leggo J, et al. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord 1997;12:519-530
44. Klement IA, Skinner PJ, Kaytor MD, et al. Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA 1 transgenic mice. Cell 1998;95:41-53
45. Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA 8). Nature Genetics 1999;21:379-384
46. Zu L, Figueroa KP, Grewal R, Pulst S-M. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 1999;64:594-599
47. Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa T. Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol 1999;45:407-411
48. Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. 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;65:420-426