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2005 | 46 | 3 | 325-328
Article title

Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion

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EN
Abstracts
EN
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.
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Year
Volume
46
Issue
3
Pages
325-328
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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
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