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Article

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.

Movement disorders : official journal of the Movement Disorder Society - 1 May 2015

Park Jin-Sung, Blair Nicholas F, Sue Carolyn M

Abstract excerpt

The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause Kufor-Rakeb syndrome, an autosomal recessive, juvenile-onset form of parkinsonism associated with the additional clinical triad of spasticity, supranuclear gaze palsy, and dementia. Eleven independent kindreds with homozygous or compound heterozygous ATP13A2 mutations have been...

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Identifiers

PMID: 25900096
DOI: 10.1002/mds.26243

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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