title: Do CTG expansions at the SCA8 locus cause ataxia?
abstract: To evaluate the significance of expanded CTG repeats at the SCA8 locus, we analyzed the allele distribution in 1,262 German ataxia patients. We found intermediate and expanded CTG repeats with similar frequencies in ataxia patients with and without established genetic diseases. One family linked to the SCA8 locus showed incomplete penetrance and an association of smaller CTG repeats with more severe disease. Our data question the disease-causing character of CTG expansions for SCA8 and advise great caution in genetic testing.
authors.affiliation: Department of Neurology, St. Josef Hospital, Ruhr-University, Bochum, Germany. ludger.shoels@ruht-uni-bochum.de
authors.forename: Ludger
authors.initials: L
authors.lastname: Schöls
authors.forename: Ingrid
authors.initials: I
authors.lastname: Bauer
authors.forename: Christine
authors.initials: C
authors.lastname: Zühlke
authors.forename: Thorsten
authors.initials: T
authors.lastname: Schulte
authors.forename: Christina
authors.initials: C
authors.lastname: Kölmel
authors.forename: Katrin
authors.initials: K
authors.lastname: Bürk
authors.forename: Helge
authors.initials: H
authors.lastname: Topka
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Horst
authors.initials: H
authors.lastname: Przuntek
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D001259:Ataxia / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D012720:Severity of Illness Index; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C415906:ATXN8OS gene product, human; D009419:Nerve Tissue Proteins; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated