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Ann Neurol. 2006 Feb;59(2):388-93.

Lrrk2 and Lewy body disease.

Author information

1
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA.

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.

PMID:
16437559
DOI:
10.1002/ana.20731
[Indexed for MEDLINE]
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