Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

Annals of Neurology

Volumn 45, Issue 3, 1999, Pages 407-411

  Matsuura, Tohru ^a,c   Achari, Madhureeta ^d   Khajavi, Mehrdad ^a,c   Bachinski, Linda L ^b   Zoghbi, Huda Y ^a   Ashizawa, Tetsuo ^a,b,c  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c MICHAEL E DEBAKEY VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 22Q; CLINICAL ARTICLE; CROSSING OVER; EPILEPSY; FAMILY STUDY; FEMALE; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MALE; PRIORITY JOURNAL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; EPILEPSY; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR DEGENERATIONS;

EID: 0032987869     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D     Document Type: Article

References (23)

1. Orr HT, Chung M-Y, Banfi S, et al. Expansion of an unstable trinucleotide repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226
2. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 gene on human chromosome 12. Nat Genet 1996;14:269-276
3. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG repeat expansion in a novel gene in Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-228
4. 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
5. Ranum LP, Schut LJ, Lundgren JK, et al. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;8:280-284
6. Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997;15:62-69
7. David G, Abbas N, Stevanin GD II, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70
8. Grewal RP, Tayag E, Figueroa KP, et al. Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. Neurology 1998;51:1423-1426
9. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994;6:9-13
10. Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996;380:152-154
11. Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396
12. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14
13. Zu L, Figueroa KP, Grewai RP, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia (SCA8) to chromosome 22. Am J Hum Genet 1998;63(Suppl):A347
14. Cummings CJ, Mancini MA, Antalffy B, et al. Charperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 1998;19:148-154
15. Ikeda H, Yamaguchi M, Sugai S, et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996;13:196-202
16. Igarashi S, Koide R, Shimohata T, et al. Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 1998;18:111-117
17. 2+ channel gene CACNL1A4. Cell 1996; 87:543-552
18. Fletcher CF, Lutz CM, O'Sullivan TN, et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996;87:607-617
19. 2+ channel subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (1h) mouse. Cell 1997;88:385-392
20. Cox GA, Lutz CM, Yang CL, et al. Sodium/hydrogen exchanger gene defect in slow-wave epilepsy mutant mice. Cell 1997;91:139-148
21. 2+-channel subunit. Nat Genet 1998;19:340-347
22. Homanics GE, DeLorey TM, Firestone LL, et al. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci USA 1997;15:4143-4148
23. Matsumoto M, Nakagawa T, Inoue T, et al. Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-triphosphate receptor. Nature 1996;379:168-171