Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.
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.
Remes
A M
AM
Department of Neurology, University of Oulu, Box 5000, FIN-90014, Oulu, Finland. anne.remes@oulu.fi
Hinttala
R
R
Kärppä
M
M
Soini
H
H
Takalo
R
R
Uusimaa
J
J
Majamaa
K
K
D000368:Aged; D003042:Cocaine / Q000031:analogs & derivatives; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D019275:Radiopharmaceuticals; D012694:Serine / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods; D014364:Tryptophan / Q000235:genetics*
D019275:Radiopharmaceuticals; D012694:Serine; C069723:2beta-carbomethoxy-3beta-(4-iodophenyl)tropane; D014364:Tryptophan; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human; D003042:Cocaine