Email updates

Keep up to date with the latest news and content from BMC Medical Genetics and BioMed Central.

Open Access Highly Accessed Case report

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

Monica Bandettini di Poggio1*, Claudia Nesti2, Claudio Bruno3, Maria Chiara Meschini2, Angelo Schenone1 and Filippo M Santorelli2

Author Affiliations

1 Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCSS Azienda Opedaliera Universitaria San Martino-IST, Largo Daneo 3-16132, Genova, Italy

2 IRCCS Stella Maris Foundation, UOC Molecular Medicine, Neurodegenerative and Neuromuscular Diseases, Calambrone, Pisa, Italy

3 Unit of Muscular and Neurodegenerative Disease, IRCCS G. Gaslini Institute, Genova, Italy

For all author emails, please log on.

BMC Medical Genetics 2013, 14:105  doi:10.1186/1471-2350-14-105

Published: 7 October 2013

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.

Keywords:
POLG; Parkinsonism; Mitochondrial dysfunction; Ataxia; Progressive external ophthalmoparesis