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Genetic causes of Parkinson disease (PD) have been identified in approximately 3% of cases with the discovery of mutations in six genes. The most common of these are the gene for leucine-rich repeat kinase 2 (LRRK2), which is autosomal dominant, and parkin, which is recessive. However, this review demonstrates that the genetics of PD are complex.
LRRK2 produces a phenotype identical to classical PD, with age of onset at approximately 50 to 70 years. The most common mutation (G2019S) has been reported to cause 1.5% of all cases of PD. Penetrance is age-dependent and is estimated to be 25% to 35%. Despite LRRK2 being dominantly inherited, many people who are heterozygous for LRRK2 mutations do not develop the disease.
Homozygous or compound het…