Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

Archives of Neurology

Volumn 57, Issue 4, 2000, Pages 540-544

  Tang, Beisha ^a   Liu, Chunyu ^b   Shen, Lu ^a   Dai, Heping ^b   Pan, Qian ^b   Jing, Lijuan ^a   Ouyang, Shan ^a   Xia, Jiahui ^b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b Natl Lab of Med Genetics of China   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHINESE; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SPINOCEREBELLAR TRACT; TRINUCLEOTIDE REPEAT;

EID: 0034093161     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.57.4.540     Document Type: Article

References (22)

1. Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeats 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. Nat Genet. 1996; 14:269-276.
3. 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.
4. Sanpei K, Takano F, 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.
5. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221-228.
6. 1A-voltage-dependent calcium channel. Nat Genet. 1997;15:62-69.
7. 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.
8. Koide R, Ikeuchi T, Onodera O, et al. Unstable expansion of CAG repeat in hereditary dentato-rubral-pallidoluysian atrophy (DRPLA). Nat Genet. 1994;6:9-13.
9. Nagafuchi S, Yanagisawa H, Sato K, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 1994;6:14-18.
10. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1-14.
11. Hirayama K, Takayanagi T, Nakamura R, et al. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neuro/Scand. 1994; 153(suppl):1-22.
12. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1989.
13. Maruyama H, Kawakami H, Nakamura S. Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR. Hum Genet. 1996;97:591-595.
14. Silveira I, Lopes-Cendes F, Kish S, et al. Frequency of spinocerebellar ataxia type 1, dentato-rubral-pallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology. 1996;46: 214-218.
15. Schols L, Amoiridis G, Buttner T, Przuritek H, Epplen JT, Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol. 1997;42:924-932.
16. Watanabe H, Tanaka F, Matsumoto M et al. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clin Genet. 1998;53:13-19.
17. Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet. 1995;4:807-817.
18. Takiyama Y, Igarashi S, Rogaeva EA, et al. Evidence for intergenerational instability in the CAG repeats in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet. 1995;4:1137-1146.
19. Zhou YX, Wang GX, Tang BS, et al. Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families. Neurology. 1998;51:595-598.
20. Ranum LPW, Chung M, Banfi S, et al. Molecular and clinical correlations in spinocerebellar ataxia type 1: evidence for familial effects on the age at onset. Am J Hum Genet. 1994;55:244-252.
21. Cancel G, Dürr A, Didierjean O, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet. 1994;55:244-252.
22. Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular,and neuropathological features. Ann Neurol. 1996;39:490-499.