期刊
NEUROBIOLOGY OF AGING
卷 34, 期 6, 页码 -出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2012.12.024
关键词
Amyotrophic lateral sclerosis; Genetics; Profilin 1
资金
- National Natural Science Foundation of China [30971002]
- International Cooperation and Exchange National Natural Science Foundation of China [30911120496]
- Chinese Academy of Medical Sciences and Peking Union Medical College [X2010020]
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease primarily involving the corticospinal tract, brainstem, and anterior cells of the spinal cord. Mutations in the profilin 1 gene (PFN1) were recently described in ALS families. To investigate the spectrum and frequency of PFN1 mutations further, we sequenced all 3 exons of the PFN1 gene in 20 familial ALS index cases, 324 sporadic ALS patients, and 355 healthy control subjects. No nonsynonymous coding variants were identified. Our findings suggest that mutations in the PFN1 gene are not a common cause of ALS in the Chinese population. (C) 2013 Elsevier Inc. All rights reserved.
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