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

Parkinsonism Relat Disord. 2007 Aug;13(6):359-61. doi: 10.1016/j.parkreldis.2006.08.009. Epub 2006 Oct 19.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cohort Studies
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Lysine / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Parkinson Disease / genetics*
  • Proline / genetics*
  • Protein Kinases / genetics*


  • Proline
  • Protein Kinases
  • PTEN-induced putative kinase
  • Lysine