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Journal of Applied Genetics 46(3), 2005, pp. 325-328

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

Peter O. Bauer, Vaclav Matoska, Alena Zumrova, Arpad Boday, Hiroshi Doi, Tatana Marikova, Petr Goetz


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.

Key words: anticipation, Czech population, CAG repeat, SCA1, spinocerebellar ataxia type 1.

Correspondence: P.O. Bauer, Laboratory for Structural Neuropathology, RIKEN Brain Science Institute, Wako-shi, 351-0198, Saitama, Japan, e-mail: pbauer@brain.riken.jp

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