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.

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

SUBMITTER: Dolhun R 

PROVIDER: S-EPMC3728152 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature