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Genetic Analysis of a Dentatorubral-Pallidoluysian Atrophy Family: Relevance to Apparent Sporadic Cases
1999
Internal medicine (Tokyo. 1992)
Preserved Fulltext
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
doi:10.2169/internalmedicine.38.287
fatcat:mmqhuabfzjgcxhaea2jcohryqe