A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

Neurology

Volumn 54, Issue 10, 2000, Pages 1971-1975

  Nagaoka, U ^g   Takashima, M ^g   Ishikawa, K ^a   Yoshizawa, K ^b   Yoshizawa, T ^a   Ishikawa, M ^c   Yamawaki, T ^d,e   Shoji, S ^a   Mizusawa, Hidehiro ^f  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b Department of Neurosurgery   (Japan)

^c Department of Internal Medicine   (Japan)

^d Mito Red Cross Hospital   (Japan)

^e NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^f TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^g NONE

Author keywords

Autosomal dominant cerebellar ataxia; SCA4; Spinocerebellar ataxia

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 16Q; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DOMINANT INHERITANCE; FEMALE; GENETIC LINKAGE; HUMAN; MALE; PRIORITY JOURNAL;

EID: 0034705210     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.54.10.1971     Document Type: Article

References (31)

1. Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of "The Drew family of Walworth." Brain 1982;105:1-28.
2. Zoghbi HY, Jodice C, Sandkuijl LA, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindredx. Am J Hum Genet 1991;49:23-30.
3. Gispert S, Twells R, Orozco G, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295-299.
4. Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993;4:300-304.
5. Stevanin G, Le Guern E, Ravisè N, et al. A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994;54:11-20.
6. Gardner K, Alderson K, Galster B, Kaplan C, Leppert M, Ptacek L. Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 1994;44(suppl 2):A361. Abstract.
7. 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.
8. Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280-284.
9. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69.
10. Ishikawa K, Tanaka H, Saito M, et al. Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1. Am J Hum Genet 1997;61:336-346.
11. 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.
12. Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995;10:89-93.
13. Koob D, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-384.
14. Zu L, Figueroa KP, Grewal R, Pulst S-M. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet 1998;64:594-599.
15. 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.
16. Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 1999;23:391-392.
17. Orr HT, Chung M-y, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
18. 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.
19. 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.
20. 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.
21. 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.
22. David G, Abbas N, Stevanin G, et al. A cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
23. 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.
24. Dib C, Faurè S, Fizames C, et al. A comprehensive genetic map of human genome based on 5,264 microsatellites. Nature 1996;380:A1-A138.
25. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1994;81:3443-3446.
26. Terwilliger JD, Ott J. Handbook of human genetic linkage. The Johns Hopkins University Press, Baltimore, 1994.
27. Grewal RP, Tayag E, Figueroa KP, et al. Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. Neurology 1998;51:1423-1426.
28. Matsumura R, Futamura N, Fujimoto Y, et al. Spinocerebellar ataxia type 6. Molecular and clinical features 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997;49:1238-1243.
29. Ikeuchi T, Takano H, Koide R, et al. Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population. Ann Neurol 1997;42:879-884.
30. Biemond A. La forme radiculo-cordonnale postèriure des dègènèrescences spino-cèrèbelleuses. Rev Neurol 1954;91:2-21.
31. Nachmanoff DB, Segal RA, Dawson DM, Brown RB, De Girolami U. Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. Neurology 1997;48:273-275.