Linkage disequilibrium at the SCA2 locus

Journal of Medical Genetics

Volumn 36, Issue 5, 1999, Pages 415-417

  Didierjean, Olivier ^a   Cancel, Géraldine ^a   Stevanin, Giovanni ^a   Dürr, Alexandra ^a   Bürk, Katrin ^b   Benomar, Ali ^c   Lezin, Agnès ^d   Belal, Samir ^e   Abada Bendid, Myriem ^f   Klockgether, Thomas ^b   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c IBN SINA HOSPITAL   (Morocco)

^d Lab de Biologie Moléculaire   (Martinique)

^e Institut National de Neurologie Tunisia   (Tunisia)

^f Centre Hospitalier et Universitaire de Beni Messous Algiers   (Algeria)

Author keywords

Founder effect; Linkage disequilibrium; SCA2; Trinucleotide repeat expansion

Indexed keywords

MICROSATELLITE DNA; POLYGLUTAMIC ACID;

ARTICLE; CEREBELLAR ATAXIA; FRANCE; GENE LINKAGE DISEQUILIBRIUM; GERMANY; HAPLOTYPE; HUMAN; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; YUGOSLAVIA;

FOUNDER EFFECT; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; NERVE TISSUE PROTEINS; PROTEINS; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

ATAXIA;

EID: 0032943086     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Dürr A, Brice A, Genetics of movement disorders. Curr Opin Neurol 1996;9:290-7.
2. Koshy BT, Zoghbi HY The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol 1997;7:927-42.
3. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
4. Cancel G, Dür A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709-15.
5. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-76.
6. Sahba S, Nechiporuk A, Figueroa KP, et al. Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2). Genomics 1998;47:359-64.
7. Stevanin G, Le Guern E, Ravise N, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994;54:11-20.
8. Risch N, de Leon D, Ozelius L, et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995;9:152-9.
9. Lezin A, Cancel G, Stevanin G, et al. Autosomal dominant cerebellar ataxia I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families. Hum Genet 1996;97:671-6.
10. Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. 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;60:842-50.
11. Giunti P, Sabbadini G, Sweeney MG, et al. The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families - frequency, clinical and genetic correlates. Brain 1998;121:459-67.
12. Kwiatkowski TJ Jr, Orr HT, Banfi S, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am J Hum Genet 1993;53:391-400.
13. Wakisaka A, Sasaki H, Takada A, et al. Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry. J Med Genet 1995;32:5902.
14. Frontali M, Sabbadini G, Novelletto A, et al. Genetic fitness in Humington's disease and spinocerebellar ataxia 1: a population genetics model for GAG repeat expansions. Ann Hum Genet 1996;60:423-35.
15. Stevanin G, Lebre AS, Mathieux C, et al. Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. Am J Hum Genet 1997;60:1548-52.
16. Takiyama Y, Igarashi S, Rogaeva EA, et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995;4:1137-46.
17. Endo K, Sasaki H, Wakisaka A, et al. Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease. Am J Med Genet 1996;67:43744.
18. Stevanin G, Dürr A, David G, et al. Clinical and molecular features of spinocerebellar ataxia type 6. Neurology 1997;49:1243-6.