title: POLG1-related levodopa-responsive parkinsonism.
abstract: Parkinsonian features have been described in patients with POLG1 mutations. Notwithstanding, the clinical expression has been revealed heterogeneous and the response to dopaminergic treatment has been document in few cases. We aim to describe the longitudinal clinical features and the treatment response of three unrelated patients with neurodegenerative parkinsonism, preceded by PEO and SANDO syndromes, who harbor POLG1 mutations, including two novel mutations. It was documented a sustained response to levodopa, at 3 and 8 years of follow-up of parkinsonian syndrome, and reduced striatal dopamine uptake. We review the genotypic and phenotypic spectrum of POLG1-related parkinsonism. Our observations stimulate the debate around the role of mitochondrial DNA defects in the pathogenesis of neurodegenerative parkinsonism.
authors.affiliation: Department of Neurology, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal. Electronic address: rita.miguel85@gmail.com.
authors.forename: Rita
authors.initials: R
authors.lastname: Miguel
authors.affiliation: Department of Neurology, Centro Hospitalar do Alto Ave, Guimarães, Portugal; Escola de Ciências da Saúde, Universidade do Minho, Braga, Portugal.
authors.forename: Miguel Fernandes
authors.initials: MF
authors.lastname: Gago
authors.affiliation: Department of Neurology, Hospital Pedro Hispano, Matosinhos, Portugal.
authors.forename: João
authors.initials: J
authors.lastname: Martins
authors.affiliation: Department of Neurology, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal.
authors.forename: Pedro
authors.initials: P
authors.lastname: Barros
authors.affiliation: Department of Neurology, Hospital Beatriz Ângelo, Loures, Portugal.
authors.forename: José
authors.initials: J
authors.lastname: Vale
authors.affiliation: Department of Neurology, Centro Hospitalar de São João, Porto, Portugal.
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Rosas
mesh_terms: D000368:Aged; D000978:Antiparkinson Agents / Q000008:administration & dosage / Q000494:pharmacology*; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000494:pharmacology*; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000188:drug therapy* / Q000235:genetics*; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: D000978:Antiparkinson Agents; D004272:DNA, Mitochondrial; D007980:Levodopa; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: DNA polymerase gamma gene; Mitochondria; PEO; Parkinsonism; SANDO