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Case Reports
. 1999 Mar;38(3):287-9.
doi: 10.2169/internalmedicine.38.287.

Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases

M Hattori  1 , H Yuasa, K Takada, T Yamada, K Yamada, K Kamimoto, M Uchida
Affiliations
Free article
Case Reports

Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases

M Hattori et al. Intern Med. 1999 Mar.
Free article

Abstract

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 units in her family revealed the 81-year-old father to have an expanded CAG repeat of 51 units. To our knowledge, such an advanced aged unaffected patient has not been previously documented. The present example may explain apparent sporadic cases.

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Comment in

  • Molecular base of "de novo" DRPLA.
    Abe K. Abe K. Intern Med. 1999 Mar;38(3):223. doi: 10.2169/internalmedicine.38.223. Intern Med. 1999. PMID: 10337929 Review. No abstract available.

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