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: J Doostzadeh, J W Tetrud, M Allen-Auerbach, J W Langston, B Schüle
• Journal: Parkinsonism & related disorders (Parkinsonism Relat Disord) Vol. 13 Issue 6 Pg. 359-61 (Aug 2007) ISSN: 1353-8020 [Print] England
• PMID: 17055324 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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)