Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

Monica Bandettini di Poggio, Claudia Nesti, Claudio Bruno, Maria C. Meschini, Angelo Schenone, Filippo M. Santorelli

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.Case presentation: Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase gamma (POLG) and manifesting with a complex neurological phenotype including Dopamine-agonist responsive Parkinsonism.Conclusion: This case report is further evidence that mitochondrial dysfunction might play a role in Parkinson's Disease pathogenesis and helps in identification of apparent mutation-specific clinical characteristics. Mutations in POLG should be looked for in cases of Parkinsonism, especially when multisystem neurological involvement is found.

Original languageEnglish
Article number105
JournalBMC Medical Genetics
Volume14
Issue number1
DOIs
Publication statusPublished - Oct 7 2013

Keywords

  • Ataxia
  • Mitochondrial dysfunction
  • Parkinsonism
  • POLG
  • Progressive external ophthalmoparesis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation'. Together they form a unique fingerprint.

Cite this