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Parkinson disease 17

Summary

VPS35-related Parkinson disease (VPS35-PD) is defined as Parkinson disease caused by heterozygous VPS35 pathogenic variants. Currently, the only known VPS35 variant with confirmed pathogenicity is c.1858G>A (p.Asp620Asn). Except for a younger age of onset, VPS35-PD is clinically indistinguishable from Parkinson disease of unknown cause (so-called sporadic Parkinson disease). Variability among 50 individuals reported with molecularly confirmed VPS35-PD includes age of onset (mean: 51.0±8.7 years; range: 34-68 years), Parkinson subtype (tremor, akinetic rigid, mixed), first motor symptom, course of the disease (unilateral onset and slow disease progression are typical; dyskinesia and motor fluctuations may occur), and presence/absence of neuropsychiatric manifestations (including depression, schizophrenia, learning difficulties, mild cognitive impairment, and dementia). [from GeneReviews]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MEM3, PARK17, VPS35
    Summary: VPS35 retromer complex component

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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