期刊
NATURE GENETICS
卷 41, 期 2, 页码 163-165出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.293
关键词
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资金
- Pacific Alzheimer Research Foundation (PARF) [C06-01]
- Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS) [P50 NS40256]
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 intracytoplasmic inclusions. Our findings show that DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders.
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