Clinical Features of Parkinson Disease Patients With Homozygous Leucine-Rich Repeat Kinase 2 G2019S Mutations

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Abstract
Six PARK genes explaining familial Parkinson disease (PD) have been identified, with much interest in the most recently identified leucine-rich repeat kinase 2 gene (LRRK2). Parkinson disease associated with LRRK2 has an autosomal dominant pattern of inheritance; however, many patients with LRRK2 G2019S substitutions do not have a family history of PD. The clinical and neuropathological features appear to be indistinguishable from those of sporadic PD.1,2 Twenty pathogenic or putative pathogenic mutations have been identified in familial and sporadic parkinsonism, and 6055G>A (G2019S) is the most common.3-6 The G2019S mutation has been found in various populations across the world, but homozygous substitutions appear to be very rare.4,5,7-16 This report presents the clinical features of homozygotes and compares them with the clinical phenotype of LRRK2 G2019S heterozygotes in published literature.8