DCTN1 mutations in Perry syndrome

Matthew Farrer and colleagues report missense mutations in DCTN1 , encoding dynactin, in eight families with Perry syndrome, a neurodegenerative disorder marked by early-onset parkinsonism, depression, severe weight loss and hypoventilation. Perry syndrome consists of early-onset parkinsonism, depre...

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Veröffentlicht in:	Nature genetics 2009-02, Vol.41 (2), p.163-165
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Animal Genetics and Genomics Binding proteins Biological and medical sciences Biomedical and Life Sciences Biomedicine Brain - metabolism Brain - pathology brief-communication Cancer Research Complex syndromes Depression - genetics Depression - metabolism Depression - pathology DNA-Binding Proteins - metabolism Dynactin Complex Family Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Genome-Wide Association Study Health aspects Human Genetics Humans Hypoventilation - genetics Hypoventilation - metabolism Hypoventilation - pathology Male Medical genetics Medical research Medical sciences Microtubule-Associated Proteins - genetics Microtubule-Associated Proteins - metabolism Mutation Mutation - physiology Neurons Parkinson's disease Parkinsonian Disorders - genetics Parkinsonian Disorders - metabolism Parkinsonian Disorders - pathology Pedigree Physiological aspects Risk factors Social research Syndrome Weight Loss - genetics
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