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How to Predict the Risk of Parkinson Disease in Relatives of Parkin Mutation CarriersA Complex Puzzle of Age, Penetrance, and Number of Mutated Alleles
Christine Klein, MD;
Andreas Ziegler, PhD
Arch Neurol. 2008;65(4):443-444.
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Doubt is not a pleasant condition, but certainty is absurd.
Voltaire (1694-1778)
Mutations in the recessively inherited Parkin gene (OMIM 600116) are the most common known cause of early-onset Parkinson disease (PD) and account for as many as 77% of the patients with a juvenile or very young age of onset (< 30 years)1 and about 10% of a population-based sample with early-onset PD beginning at younger than 50 years.2 Although homozygous or compound-heterozygous Parkin mutations (ie, 2 mutated Parkin alleles) have only rarely been found in late-onset disease, the presence of a single heterozygous mutation has been suggested as a susceptibility factor for the development of later-onset PD based on family, case-control, and neuroimaging studies.3 A similar role has been discussed for mutations in the other recessive PD genes (ie, PINK1 [OMIM 605909 ], DJ-1 [OMIM 606324], and, recently, ATP13A2 [OMIM 606693. . . [Full Text of this Article] AUTHOR INFORMATION
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