Article
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2014
Araki Eiichi, Tsuboi Yoshio, Daechsel Justus, Milnerwood Austen, Vilarino-Guell Carles, Fujii Naoki, Mishima Takayasu, Oka Takayuki, Hara Hideo, Fukae Jiro, Farrer Matthew J
Abstract excerpt
BACKGROUND: Depression, parkinsonism, and hypoventilation (Perry syndrome) or familial motor neuron disease have been linked to mutations in dynactin P150(Glued) (DCTN1). METHODS: We employed genealogic, clinical, neurologic, and MRI investigations, as well as analysis of genes implicated in parkinsonism. Cellular transfection, immunocytochemistry, and immunoprecipitation analysis of wild-type (WT) and mutant...
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