期刊
ACTA NEUROPATHOLOGICA
卷 113, 期 5, 页码 601-606出版社
SPRINGER
DOI: 10.1007/s00401-006-0178-1
关键词
LRRK2; MAPT; progranulin; frontotemporal dementia
资金
- NIA NIH HHS [P50 AG16574, P01 AG17216] Funding Source: Medline
- NINDS NIH HHS [P50 NS40256] Funding Source: Medline
Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41 pathologically confirmed cases of FTD, including 23 with a family history of dementia, were screened for genetic variations in the LRRK2 gene. We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders.
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