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- Title
Lrrk2 and Lewy body disease.
- Authors
Ross OA; Toft M; Whittle AJ; Johnson JL; Papapetropoulos S; Mash DC; Litvan I; Gordon MF; Wszolek ZK; Farrer MJ; Dickson DW
- Abstract
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 neuropathology 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.
- Publication
Annals of Neurology, 2006, Vol 59, Issue 2, p388
- ISSN
0364-5134
- Publication type
Journal Article