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Article

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

Parkinsonism & related disorders - 1 Aug 2007

Doostzadeh J, Tetrud J W, Allen-Auerbach M, Langston J W, Schüle B

Abstract excerpt

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....

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Source

Identifiers

PMID: 17055324
DOI: 10.1016/j.parkreldis.2006.08.009

Genes

PINK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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