title: Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.
abstract: 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.
authors.affiliation: The Parkinson's Institute, 1170 Morse Avenue, Sunnyvale, CA 94089-1605, USA.
authors.forename: J
authors.initials: J
authors.lastname: Doostzadeh
authors.forename: J W
authors.initials: JW
authors.lastname: Tetrud
authors.forename: M
authors.initials: M
authors.lastname: Allen-Auerbach
authors.forename: J W
authors.initials: JW
authors.lastname: Langston
authors.forename: B
authors.initials: B
authors.lastname: Schüle
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D008239:Lysine; D011392:Proline; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase