Article
Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases.
Internal medicine (Tokyo, Japan) - 1 Mar 1999
Hattori M, Yuasa H, Takada K, Yamada T, Yamada K, Kamimoto K, Uchida M
Abstract excerpt
Dentatorubral-pallidoluysian atrophy (DRPLA) is associated with an unstable CAG trinucleotide sequence. We describe a DRPLA family whose members have an allele containing an expanded CAG repeat, even in an elderly neurologically normal individual. The proband developed DRPLA at age 14. She was initially considered a sporadic case, but later her sister became symptomatic. Investigation of the number of CAG repeat...
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