SCA8 repeat expansions in ataxia: a controversial association

The observation of large SCA8 alleles in healthy control subjects and nonataxic patients, together with a lack of segregation of the expanded repeat with ataxia in several families, has raised questions about the pathogenic role of the SCA8 expansion. The authors found allele sizes within the propos...

Full description

Saved in:
Bibliographic Details
Published inNeurology Vol. 57; no. 7; p. 1310
Main Authors Sobrido, M J, Cholfin, J A, Perlman, S, Pulst, S M, Geschwind, D H
Format Journal Article
LanguageEnglish
Published United States 09.10.2001
Subjects
Adult
Alzheimer Disease - genetics
Alzheimer Disease - pathology
Female
Friedreich Ataxia - genetics
Friedreich Ataxia - pathology
Gene Frequency
Genetic Counseling
Genotype
Humans
Male
Middle Aged
Nerve Tissue Proteins - genetics
RNA, Long Noncoding
RNA, Untranslated
Spinocerebellar Ataxias - genetics
Spinocerebellar Ataxias - pathology
Trinucleotide Repeat Expansion
Online AccessGet more information
ISSN0028-3878
DOI10.1212/wnl.57.7.1310

Cover

More Information
Summary:The observation of large SCA8 alleles in healthy control subjects and nonataxic patients, together with a lack of segregation of the expanded repeat with ataxia in several families, has raised questions about the pathogenic role of the SCA8 expansion. The authors found allele sizes within the proposed pathogenic range in three patients with ataxia of unknown etiology, in two individuals from pedigrees with either SCA2 or Friedreich's ataxia, and in two patients with Alzheimer's disease. Sizing of SCA8 alleles should not be a routine diagnostic test until its etiologic role is clarified and the pathogenic threshold is determined.
ISSN:0028-3878
DOI:10.1212/wnl.57.7.1310