Journal
Article title
Title variants
Languages of publication
Abstracts
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.
Keywords
Discipline
Journal
Year
Volume
Issue
Pages
325-328
Physical description
Contributors
author
author
author
author
author
author
author
References
Document Type
SHORT COMMUNICA
Publication order reference
P.O. Bauer, Laboratory for Structural Neuropathology, RIKEN Brain Science Institute, Wako-shi, 351-0198, Saitama, Japan
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-2396726f-0573-3a98-aa99-f1d283f9bed4