Article
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.
Parkinsonism & related disorders - 1 Aug 2008
Wider C, Skipper L, Solida A, Brown L, Farrer M, Dickson D, Wszolek Z K, Vingerhoets F J G
Abstract excerpt
AIM: To describe a large family with autosomal dominant parkinsonism. BACKGROUND: Seven genes are directly implicated in autosomally inherited parkinsonism. However, there are several multigenerational large families known with no identifiable mutation. MATERIAL AND METHODS: Family members were evaluated clinically, by history and chart review. Genetic investigation included SCA2, SCA3, UCHL1, SNCA, LRRK2, PINK1,...
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