PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Approximately 10% of Parkinson disease (PD) has a monogenic basis. PARK7 is a rare recessive form of early-onset PD caused by mutations in the gene PARK7 (formerly DJ1).1 As expected for a recessive disorder, PARK7 patients usually inherit 1 mutant allele from each parent; in fact, most reported cases have occurred in consanguineous families. We report an adult with early onset PD who inherited 2 identical pathogenic PARK7 variants from her asymptomatic father, a carrier for the same variant, via complete uniparental isodisomy (UPD) of chromosome 1.

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