Genetics of Parkinson’s disease and parkinsonism

Abstract

The past 10 years has seen a shift in our etiological concepts of Parkinson’s disease, moving from a nearly exclusively environmentally mediated disease towards a complex disorder with important genetic contributors. The identification of responsible mutations in certain genes, particularly α-synuclein, Parkin, PINK1, DJ-1 and LRRK2, has increased our understanding of the clinical and pathological changes underlying Parkinson’s disease, with implications for patient diagnosis, management and future research. This review will outline the specific genetic advances, discuss their implications for clinical practice and hint at future directions for research into this common and disabling disease.

Keywords::

• α-synuclein
• LRRK2
• neurogenetics
• Parkin
• Parkinson’s disease
• PARK loci
• PINK1