title: Genetic analysis of a dentatorubral-pallidoluysian atrophy family: relevance to apparent sporadic cases.
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.
authors.affiliation: Department of Neurology, Tosei General Hospital, Seto, Aichi.
authors.forename: M
authors.initials: M
authors.lastname: Hattori
authors.forename: H
authors.initials: H
authors.lastname: Yuasa
authors.forename: K
authors.initials: K
authors.lastname: Takada
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Yamada
authors.forename: K
authors.initials: K
authors.lastname: Kamimoto
authors.forename: M
authors.initials: M
authors.lastname: Uchida
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001284:Atrophy; D004247:DNA / Q000032:analysis; D018891:Dentate Gyrus / Q000473:pathology*; D004591:Electrophoresis, Polyacrylamide Gel; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012012:Red Nucleus / Q000473:pathology; D018911:Trinucleotide Repeats
chemical_list: D009419:Nerve Tissue Proteins; C095278:atrophin-1; D004247:DNA