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Article

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Parkinsonism & related disorders - 1 Apr 2013

Puschmann Andreas

Abstract excerpt

Mutations in seven genes are robustly associated with autosomal dominant (SNCA, LRRK2, EIF4G1, VPS35) or recessive (parkin/PARK2, PINK1, DJ1/PARK7) Parkinson's disease (PD) or parkinsonism. Changes in a long list of additional genes have been suggested as causes for parkinsonism or PD, including genes for hereditary ataxias (ATXN2, ATXN3, FMR1), frontotemporal dementia (C9ORF72, GRN, MAPT, TARDBP), DYT5 (GCH1,...

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Source

Identifiers

PMID: 23462481
DOI: 10.1016/j.parkreldis.2013.01.020

Genes

PARK7
PINK1
SNCA
ATXN2
ATXN3
DNAJC6
FMR1
GCH1
GIGYF2
GRN
HTRA2
MAPT
POLG
SPG11
SPR
TARDBP
UCHL1
VPS35

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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