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Background  Parkinson's disease (PD) is the second most common neurodegenerative disorder. Recently, mutations in the  PINK1  (PARK6) gene were shown to rarely cause autosomal-recessively transmitted, early-onset parkinsonism. In order to evaluate whether  PINK1  contributes to the risk of common late-onset PD we analysed  PINK1  sequence variations. A German (85 patients) and a Norwegian cohort (90 patients) suffering from late-onset PD were screened for mutations and single nucleotide polymorphisms (SNPs) in the  PINK1  gene. Both cohorts consist of well-characterized patients presenting a positive family history of PD in ~17%. Investigations were performed by single strand conformation polymorphism (SSCP), denaturating high performance liquid chromatography (DHPLC) and sequencing analyses. SNP frequencies were compared by the χ 2  test    Results  Several common SNPs were identified in our cohorts, including a recently identified coding variant (Q115L) in exon 1. Genotyping of the Q115L variation did not reveal significant frequency differences between patients and controls. Pathogenic mutations in the  PINK1  gene were not identified, neither in the German nor in the Norwegian cohort.    Conclusion  Sequence variation in the  PINK1  gene appears to play a marginal quantitative role in the pathogenesis of the late-onset form of PD, in German and Norwegian cohorts, if at all.

Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations