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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...

Topics

Heterozygote
Homeostasis
Humans
Lysosomes
Mitochondria
Mutation
Parkinson Disease
Phenotype
Proton-Translocating ATPases
Substantia Nigra
Zinc
alpha-Synuclein

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PMID: 25900096
DOI: 10.1002/mds.26243

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.PMID 25900096Read ↗

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