期刊
ANNALS OF NEUROLOGY
卷 59, 期 2, 页码 388-393出版社
WILEY
DOI: 10.1002/ana.20731
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资金
- NIA NIH HHS [P01 AG17216] Funding Source: Medline
- NIEHS NIH HHS [R01 ES013941] Funding Source: Medline
- NINDS NIH HHS [P50 NS40256] Funding Source: Medline
Objective: The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. Patients harboring the G2019S substitution usually present with clinical Parkinson's disease. Methods: Herein, we report that the most common neuropathollogy of G2019S-associated Parkinson's disease is Lewy body disease. Results: Lrrk2 G2019S was observed in approximately 2% (n = 8) of our Parkinson's disease/Lewy body disease cases (n = 405). The mutation was also found in one control subject and one Alzheimer's disease patient, reflecting reduced penetrance. Interpretation: Therapeutic strategies targeted at modulating Lrrk2 kinase activity may be important to treat patients with genetically defined familial or typical sporadic Parkinson's disease.
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