SCA8 repeat expansions in ataxia: A controversial association

Neurology

Volumn 57, Issue 7, 2001, Pages 1310-1312

  Sobrido, M J ^a   Cholfin, J A ^a   Perlman, S ^a   Pulst, S M ^b   Geschwind, D H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ALLELE; ALZHEIMER DISEASE; ARTICLE; ATAXIA; CONTROLLED STUDY; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 0035833971     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.7.1310     Document Type: Article

References (10)

1. Hereditary ataxias
2. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
3. High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles
4. SCA8 CTG repeat: En masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance
5. Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion
6. Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
7. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia
8. An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: A common expansion locus
9. Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
10. Massive CTG expansions and deletions may reduce penetrance of spinocerebellar ataxia type 8