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Article

Update on novel familial forms of Parkinson's disease and multiple system atrophy.

Parkinsonism & related disorders - 1 Jan 2014

Fujioka Shinsuke, Ogaki Kotaro, Tacik Pawel M, Uitti Ryan J, Ross Owen A, Wszolek Zbigniew K

Abstract excerpt

Parkinson's disease (PD) and multiple system atrophy (MSA) are progressive neurodegenerative disorders classified as synucleinopathies, which are defined by the presence of α-synuclein protein pathology. Genetic studies have identified a total of 18 PARK loci that are associated with PD. The SNCA gene encodes the α-synuclein protein. The first pathogenic α-synuclein p.A53T substitution was discovered in 1997;...

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Identifiers

PMID: 24262183
DOI: 10.1016/S1353-8020(13)70010-5
PMCID: PMC4215194

Genes

VPS35
COQ2
SNCA

Variants

Provenance

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