Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 3, 2004, Pages 448-452

  Sinha, K K ^b   Worth, P F ^a   Jha, D K ^b   Sinha, S ^b   Stinton, V J ^a   Davis, M B ^a   Wood, N W ^a   Sweeney, M G ^a   Bhatia, K P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Advanced Diagnostic Centre   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASE PAIRING; CEREBELLAR ATAXIA; CLINICAL ARTICLE; DISEASE ASSOCIATION; FAMILY; GENE MUTATION; HAPLOTYPE; HUMAN; INDIA; MICROSATELLITE MARKER; POPULATION RESEARCH; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SCHOOL CHILD; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS, POPULATION; GENOTYPE; HAPLOTYPES; HUMANS; INDIA; MALE; NERVE TISSUE PROTEINS; PEDIGREE; PREVALENCE; PROTEINS; SACCADES; SPINOCEREBELLAR ATAXIAS;

EID: 1542616519     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2002.004895     Document Type: Article

References (18)

1. Wadia NH, Swami RK. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain 1971;94:359-74.
2. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-76.
3. Wadia N, Pang J, Desai J, et al. A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis. Brain 1998;121:2341-55.
4. Pang S, Allotey R, Wadia N, et al. A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. Eur J Hum Genet 1999;7:841-5.
5. Basu P, Chattopadhyay B, Gangopadhaya PK, et al. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet 2000;106:597-604.
6. Saleem Q, Choudhry S, Mukerji M, et al. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet 2000;106:179-87.
7. Srivastava AK, Choudhry S, Gopinath MS, et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 2001;50:796-800.
8. Chakravarty A, Mukherjee SC. Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state. Acta Neurol Scand 2002;105:202-8.
9. Sinha K, Bhatia K, Sweeney M, et al. The frequency and phenotype-genotype correlation in 18 families with autosomal dominant cerebellar ataxia type I (ADCA-I) from eastern India. Neurology 1998;50:A170.
10. Rosenberg RN. Joseph disease: an autosomal dominant motor system degeneration. Adv Neurol 1984;41:179-93.
11. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 1992;7:193-203.
12. Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 1993;61:139-53.
13. Stevanin G, Cancel G, Didierjean O, et al. Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am J Hum Genet 1995;57:1247-50.
14. Takano H, Cancel G, Ikeuchi T, et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 1998;63:1060-6.
15. Geschwind DH, Perlman S, Figueroa CP, et al. 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.
16. 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.
17. Mizushima K, Watanabe M, Abe K, et al. Analysis of spinocerebellar ataxia type 2 in Gunma prefecture in Japan: CAG trinucleotide expansion and clinical characteristics. J Neurol Sci 1998;156:180-5.
18. Didierjean O, Cancel G, Stevanin G, et al. Linkage disequilibrium at the SCA2 locus. J Med Genet 1999;36:415-7.