期刊
JOURNAL OF NEURAL TRANSMISSION
卷 123, 期 11, 页码 1341-1345出版社
SPRINGER WIEN
DOI: 10.1007/s00702-016-1598-2
关键词
C9ORF72; Parkinson's disease; Multiple system atrophy; Parkinsonism; Risk factor; Genetic association
The hexanucleotide repeat expansions in the C9ORF72 gene has been found in some patients with atypical Parkinsonism. A number of hexanucleotide repeats were examined in a Chinese population, including 619 patients with Parkinson's disease (PD), 381 patients with multiple system atrophy (MSA), and 632 healthy controls. We did not identify any pathogenic repeat expansions in either patients or controls, and any associations between repeats number and disease risk. C9ORF72 expansions are not involved the wider spectrum of Parkinsonism.
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