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Neurosignals. 2008;16(1):99-105. Epub 2007 Dec 5.

Mutations in LRRK2 as a cause of Parkinson's disease.

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  • 1Department of Pharmacology, University of Pennsylvania, Philadelphia, PA 19104-6084, USA. giassonb@mail.med.upenn.edu

Abstract

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common known cause of late-onset Parkinson's disease (PD). Clinical and pathological studies have demonstrated that in the majority of cases LRRK2 mutations lead to PD with classical clinical and pathological features. However, in some patients the pathological features can be distinct and/or more extensive than typically seen in PD. Collectively, these findings provide important clues into the mechanisms by which LRRK2 mutations can lead to demise of dopaminergic neurons. The understanding of LRRK2 protein function and its gene regulation and the consequences of mutations are still at their infancy, but scientific findings are progressing at a rapid pace. Although more detailed information on LRRK2 is still needed in the quest for therapeutic intervention that could halt or slow the progression of disease, here we summarize the current information on the biological and pathological properties of LRRK2.

PMID:
18097165
DOI:
10.1159/000109764
[PubMed - indexed for MEDLINE]
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