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Article

Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report.

BMC neurology - 8 Aug 2017

Norman Brendan P, Lubbe Steven J, Tan Manuela, Warren Naomi, Morris Huw R

Abstract excerpt

BACKGROUND: Bi-allelic mutations in the genes Parkin (PARK2), PINK1 (PARK6) and DJ-1 (PARK7) are established causes of autosomal recessive early-onset Parkinson's Disease (EOPD). PINK1 mutations are the second commonest cause of EOPD. Specific mutations may be relatively common in certain populations because of a founder effect. Homozygous p.A217D PINK1 mutations were previously shown to cause EOPD in a large...

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Source

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Identifiers

PMID: 28789629
DOI: 10.1186/s12883-017-0933-z
PMCID: PMC5549325

Genes

PINK1
PARK7

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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