Article
Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.
Movement disorders : official journal of the Movement Disorder Society - 15 Dec 2010
Sekine Takeshi, Kagaya Hajime, Funayama Manabu, Li Yuanzhe, Yoshino Hiroyo, Tomiyama Hiroyuki, Hattori Nobutaka
Abstract excerpt
Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated...
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