The Genetics of Parkinson’s Disease

Authors: O. Fiala;  E. Růžička
Authors‘ workplace: Neurologická klinika 1. LF UK a VFN v Praze
Published in: Cesk Slov Neurol N 2009; 72/105(5): 419-428
Category: Review Article


Parkinson’s dise ase (PD) is the second most common ne urodegenerative disorder affecting more than 1% of the populati on over the age of 60 ye ars. PD is ca used by loss of dopami­nergic ne urons in the substanti a nigra pars compacta; however the exact eti ology of the cell damage is unknown. Multiple risk factors are supposed in the eti ology of PD, such as harmful environmental influences, genetic alterati ons and bi ological ageing. Altho ugh PD is mainly sporadic dise ase, abo ut 5– 10% of cases are ca used by a gene mutati on (monogenic form of PD). To date, 12 genetic loci and eight genes associ ated with monogenic PD were identifi ed. In this revi ew, we present the basic overvi ew of the genetics of PD. Individu al genes are introduced, including the molecular pathology of their protein products.

Key words:
Parkinson’s disease – genetics – mutation – molecular pathology


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