期刊
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
卷 32, 期 1, 页码 23-25出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1365-2990.2006.00693.x
关键词
Lrrk2; neurodegeneration; PSP
资金
- NIA NIH HHS [P01 AG17216] Funding Source: Medline
- NINDS NIH HHS [P50 NS40256] Funding Source: Medline
Mutation of the LRRK2 gene has been associated with autosomal dominant parkinsonism. An R1441C pathogenic substitution was identified in Family D, a large Western Nebraskan kindred, with four members demonstrating pleomorphic pathology at autopsy. One member of this family displayed tau pathology suggestive of progressive supranuclear palsy (PSP). To evaluate the influence of mutation at the R1441 residue in this disorder we screened a series of 242 pathologically confirmed PSP cases. No evidence was found for the presence of a mutation at this codon in our series. These data would suggest that this Lrrk2 variant does not contribute in susceptibility to PSP.
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