Genetic Analysis of a Dentatorubral-Pallidoluysian Atrophy Family: Relevance to Apparent Sporadic Cases

Manabu HATTORI, Hiroyuki YUASA, Koji TAKADA, Tomoyuki YAMADA, Kentaro YAMADA, Kaoru KAMIMOTO, Masao UCHIDA
1999 Internal medicine (Tokyo. 1992)  
Dentatorubral-pallidoluysian atrophy (DRPLA)is associated with an unstable CAGtrinucleotide sequence. Wedescribe a DRPLA family whosemembershave an allele containing an expanded CAGrepeat, even in an elderly neurologically normal individual. The proband developed DRPLAat age 14. She was initially considered a sporadic case, but later her sister became symptomatic. Investigation of the number of CAGrepeat units in her family revealed the 81-year-old father to have an expanded CAGrepeat of 51
more » ... s. To our knowledge, such an advanced aged unaffected patient has not been previously documented. The present example may explain apparent sporadic cases. (Internal Medicine 38: 287-289, 1999)
doi:10.2169/internalmedicine.38.287 fatcat:mmqhuabfzjgcxhaea2jcohryqe