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Lrrk2 and Lewy body disease
Author(s) -
Ross Owen A.,
Toft Mathias,
Whittle Andrew J.,
Johnson Joseph L.,
Papapetropoulos Spiridon,
Mash Deborah C.,
Litvan Irene,
Gordon Mark F.,
Wszolek Zbigniew K.,
Farrer Matthew J.,
Dickson Dennis W.
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20731
Subject(s) - lrrk2 , lewy body , neuropathology , parkinsonism , disease , penetrance , parkinson's disease , medicine , dementia with lewy bodies , dementia , pathology , genetics , biology , phenotype , gene
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. Ann Neurol 2006;59:388–393