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Mutations in LRRK2 as a Cause of Parkinson’s DiseaseGiasson B.I.a · Van Deerlin V.M.b
Departments of aPharmacology and bPathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pa., USA Corresponding Author
Dr. Benoit I. Giasson
Department of Pharmacology, University of Pennsylvania School of Medicine
3620 Hamilton Walk, 125 John Morgan Building
Philadelphia, PA 19104-6084 (USA)
Tel. +1 215 573 6012, Fax +1 215 573 2236, E-Mail firstname.lastname@example.org
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.
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