Article
A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2015
Azuma Reo, Ishikawa Kinya, Hirata Kosei, Hashimoto Yuji, Takahashi Makoto, Ishii Kenji, Inaba Akira, Yokota Takanori, Orimo Satoshi
Abstract excerpt
BACKGROUND: Autosomal-dominant striatal degeneration is a rare autosomal-dominant neurodegenerative movement disorder characterized by slowly progressive parkinsonism. Recently, a mutation of the cyclic nucleotide phosphodiesterase 8B gene was reported to be a causal gene mutation of this disease. METHODS: We report on the clinical characteristics of 2 patients of a Japanese family with autosomal-dominant...
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