From Genes to Proteins in Mendelian Parkinson's Disease: An Overview

Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. A progressive movement disorder typified by the production of bradykinesia, tremor, rigidity, and impairment of postural reflexes, PD is characterized by a depletion of dopamine in the striatum. For the last decade, several Mendelian forms of PD have been identified. Mutations in these genes potentially lead to autosomal dominant (a-synuclein and LRRK2), or autosomal recessive PD (Pal-kin, PINK1, DJ1, and ATP13A2). This article will spotlight these six distinct genes unambiguously associated with Mendelian PD and the function of their encoded proteins. Anat Rec, 292:1893-1901, 2009. (C) 2009 Wiley-Liss, Inc.