Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene

A M Remes; R Hinttala; M Kärppä; H Soini; R Takalo; J Uusimaa; K Majamaa

doi:10.1016/j.parkreldis.2008.01.009

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene

Parkinsonism Relat Disord. 2008 Dec;14(8):652-4. doi: 10.1016/j.parkreldis.2008.01.009. Epub 2008 Mar 5.

Authors

A M Remes¹, R Hinttala, M Kärppä, H Soini, R Takalo, J Uusimaa, K Majamaa

Affiliation

¹ Department of Neurology, University of Oulu, Box 5000, FIN-90014, Oulu, Finland. anne.remes@oulu.fi

PMID: 18321754
DOI: 10.1016/j.parkreldis.2008.01.009

Abstract

Parkinsonism has been described in patients with mutations in POLG1 gene. The W748S mutation is one of the most common mutations in this gene and it has been found to be a frequent cause of autosomal recessive ataxia in adults and the Alpers syndrome in children. We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss. Parkinsonism is one of the phenotypic features associated also with the W748S mutation.

Publication types

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

MeSH terms

Aged
Cocaine / analogs & derivatives
DNA Polymerase gamma
DNA-Directed DNA Polymerase / genetics*
Humans
Male
Mutation / genetics*
Parkinsonian Disorders / diagnostic imaging
Parkinsonian Disorders / genetics*
Parkinsonian Disorders / pathology
Radiopharmaceuticals
Serine / genetics*
Tomography, Emission-Computed, Single-Photon / methods
Tryptophan / genetics*

Substances

Radiopharmaceuticals
Serine
2beta-carbomethoxy-3beta-(4-iodophenyl)tropane
Tryptophan
DNA Polymerase gamma
DNA-Directed DNA Polymerase
POLG protein, human
Cocaine