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June 2006

Increased Risk for Heterozygotes in Recessive Parkinson Disease

Arch Neurol. 2006;63(6):807-808. doi:10.1001/archneur.63.6.807

Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized by resting tremor, bradykinesia, rigidity, and postural instability. Definitive diagnosis of PD is based on several pathological postmortem criteria, including the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy body pathology. Although the etiology of PD is unknown, the recent discovery that a small but significant genetic component exists has provided novel insight into the molecular pathways involved in disease pathogenesis. The major genetic loci associated with PD are PARK1 (α-synuclein) and PARK8 (LRRK2/dardarin) which cause an autosomal dominant form of PD while mutations in PARK2 (parkin), PARK6 (PINK1), and PARK7 (DJ-1) lead to an autosomal recessive form of the disease, primarily among patients with the early-onset form, with age of onset before 50 years. It is still unclear whether the mutations, associated with early-onset PD also contribute to idiopathic PD.1

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