Frequency of different subtypes of spinocerebellar ataxia in the Han nationality of Hunan province in China

Journal of Central South University (Medical Sciences)

Volumn 31, Issue 5, 2006, Pages 702-705

  Song, Xing Wang ^a   Tang, Bei Sha ^a   Jiang, Hong ^a   Sheng, Lu ^a   Yang, Qian ^a   Liao, Shu Sheng ^a   Li, Qing Hua ^a   Tang, Jian Guang ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Dynamic mutation; Spinocerebellar ataxia; Trinucleotide repeat expansion

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CHINA; CONTROLLED STUDY; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; REPRESSOR PROTEINS; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEATS;

EID: 33750430260     PISSN: 16727347     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Schols L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis [J]. Lancet Neurol, 2004, 3(5): 291-304.
2. Harding A E. Clinical features and classification of inherited ataxias[J]. Adv Neurol, 1993, 61(1): 1-14.
3. Tang B S, Liu C Y, Shen L U, et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds[J]. Arch Neurol, 2000, 57(4)40-544.
4. Hiroto F, Jean-Jacques M, Peter P, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia[J]. Brain, 2001, 124 (10): 1939-1947.
5. Silveira I, Miranda C, Guimaraes L, et al. Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG) n allele at the SCA17 locus[J]. Arch Neurol, 2002, 59 (4): 623-629.
6. Pujana M A, Corral J, Gratacos M, et al. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group[J]. Hum Genet, 1999, 104(6) :516-522.
7. Moseley M L, Benzow K A, Schul L J, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families[J]. Neurology, 1998, 51(6): 1666-1671.
8. 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[J]. Hum Genet, 2000, 106(2): 179-187.
9. Takano H, Cancel G, Ikeuchi T, et al. Close association between dominantly inherited Spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations[J]. Am J Hum Genet, 1998, 63(4): 1060-1066.
10. Tsai H F, Liu C S, Leu T M. Analysis of trinucleotide repeats in different SCA loci in Spinocerebellar ataxia patients and in normal population of Taiwan[J]. Acta Neurol Scand, 2004, 109(5): 355-360.