Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.
BMC Neurol
; 13: 92, 2013 Jul 18.
Article
em En
| MEDLINE
| ID: mdl-23865558
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. CASE PRESENTATION 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.CONCLUSION:
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Polimerase Dirigida por DNA
/
Mutação
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Aged
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article