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Article

Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.

BMC medical genetics - 9 Sept 2016

Zahra Charmaine, Tabone Christine, Camilleri Graziella, Felice Alex E, Farrugia Rosienne, Bezzina Wettinger Stephanie

Abstract excerpt

BACKGROUND: Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson's disease (PD) are common in Mediterranean populations. Variants in the Quinoid Dihydropteridine Reductase NM_000320 (QDPR c.68G > A (p.G23D)), Sepiapterin Reductase NM_003124 (SPR c.596-2A > G) and...

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Source

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Identifiers

PMID: 27613114
DOI: 10.1186/s12881-016-0327-x
PMCID: PMC5016953

Genes

MTHFR
QDPR
SPR
SNCA

Variants

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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