Novel features in a patient homozygous for the L347P mutation in the PINK1 gene

ArticleinParkinsonism & Related Disorders 13(6):359-61 · September 2007with7 Reads
Impact Factor: 3.97 · DOI: 10.1016/j.parkreldis.2006.08.009 · Source: PubMed


    The purpose of this study was to assess the genotype-phenotype of PINK1 mutations. We genotyped eight known mutations in three clinic-based cohorts with Parkinsonism and found one homozygous p.L347P mutation in PINK1. Clinically, hypo-osmia and profound diurnal variation of symptoms were identified as novel features; fluorodopa positron emission tomography revealed striking decline in striatal fluorodopa uptake. We suggest that it may be possible to clinically separate this form of Parkinsonism from dopa-responsive dystonia and Parkin-related Parkinsonism. Furthermore, as this mutation has only been reported in Filipinos (two originated from Luzon island), our results support the hypothesis of a common founder.