title: Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion.
abstract: We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a consequence of an expansion of the CAG tract. None of the expanded alleles contained CAT interruptions. The pathologic expansion in this family was stable during the paternal but not maternal transmission, where it expanded by one trinucleotide and unexpectedly did not lead to anticipation. Our observations suggest that factors other than the length of the CAG repeat play a considerable role in determination of the disease course.
authors.affiliation: Neurogenetic Centre, Institute of Biology and Medical Genetics, Dept. of Child Neurology, Family Hospital Motol and 2nd Medical Faculty of Charles University, Prague, Czech Republic. p.bauer@brain.riken.jp
authors.forename: Peter O
authors.initials: PO
authors.lastname: Bauer
authors.forename: Vaclav
authors.initials: V
authors.lastname: Matoska
authors.forename: Alena
authors.initials: A
authors.lastname: Zumrova
authors.forename: Arpad
authors.initials: A
authors.lastname: Boday
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Tatana
authors.initials: T
authors.lastname: Marikova
authors.forename: Petr
authors.initials: P
authors.lastname: Goetz
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology; D019680:Trinucleotide Repeat Expansion