Article
The first identified French family with dentatorubral-pallidoluysian atrophy.
Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2000
Destée A, Delalande I, Vuillaume I, Schraen-Maschke S, Defebvre L, Sablonnière B
Abstract excerpt
We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes...
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