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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 Methylenetetrahydrofolate Reductase NM_005957 ( MTHFR  c.677C > T and c.1298A > C) genes are frequent in Malta and potential candidates for PD.    Methods  178 cases and 402 control samples from Malta collected as part of the Geoparkinson project were genotyped for  MTHFR  polymorphisms,  QDPR  and  SPR  mutations. Only PD and parkinsonism cases were tested for  SNCA  and  LRRK2  mutations.    Results   LRRK2  c.4321C > G and  SNCA  c.209G > A were not detected. The  LRRK2  c.6055G > A mutation was found in 3.1 % of Maltese PD cases. The  QDPR  mutation was found in both cases and controls and did not increase risk for PD. The  SPR  mutation was found in controls only. The odds ratios for  MTHFR  polymorphisms were not elevated.    Conclusions  The  LRRK2  c.6055G > A is a cause of PD in the Maltese, whilst  QDPR  c.68G > A,  SPR  c.596-2A > G and  MTHFR  c.677C > T and c.1298A > C are not important determinants of PD.    Electronic supplementary material  The online version of this article (doi:10.1186/s12881-016-0327-x) contains supplementary material, which is available to authorized users.

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