Article
DCTN1 mutations in Perry syndrome.
Nature genetics - 1 Feb 2009
Farrer Matthew J, Hulihan Mary M, Kachergus Jennifer M, Dächsel Justus C, Stoessl A Jon, Grantier Linda L, Calne Susan, Calne Donald B, Lechevalier Bernard, Chapon Francoise, Tsuboi Yoshio, Yamada Tatsuo, Gutmann Ludwig, Elibol Bülent, Bhatia Kailash P, Wider Christian, Vilariño-Güell Carles, Ross Owen A, Brown Laura A, Castanedes-Casey Monica, Dickson Dennis W, Wszolek Zbigniew K
Abstract excerpt
Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, with brain pathology characterized by TDP-43 immunostaining. We carried out genome-wide linkage analysis and identified five disease-segregating mutations affecting the CAP-Gly domain of dynactin (encoded by DCTN1) in eight families with Perry syndrome; these mutations diminish microtubule binding and lead to...
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