title: Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.
abstract: BACKGROUND
  Mutations in the POLG1 gene have variable phenotypic presentations and a high degree of clinical suspicion is necessary for their recognition. Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been established.
  
  
  METHODS
  We identified a male patient with progressive external ophthalmoplegia who also developed a progressive bradykinesia, rigidity and camptocormia in the third decade. Parkinsonism was partially responsive to dopaminegic replacement. His father and brother had reportedly similar clinical problems. Genetic analysis identified a novel mutation p.K512M in the POLG1 gene.
  
  
  CONCLUSIONS
  This report further expands the spectrum of POLG1-associated neurologic problems with the report of a novel mutation in the linker region of the gene, which are rarely associated with parkinsonism.
authors.affiliation: Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN, USA.
authors.forename: Rachel
authors.initials: R
authors.lastname: Dolhun
authors.forename: Erin M
authors.initials: EM
authors.lastname: Presant
authors.forename: Peter
authors.initials: P
authors.lastname: Hedera
mesh_terms: D000368:Aged; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000209:etiology / Q000235:genetics; D020734:Parkinsonian Disorders / Q000150:complications
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human