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

BMC Medical Genetics

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

[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;IRCCS Stella Maris Foundation, UOC Molecular Medicine, Neurodegenerative and Neuromuscular Diseases, Calambrone, Pisa, Italy;Unit of Muscular and Neurodegenerative Disease, IRCCS G. Gaslini Institute, Genova, Italy

关键词: Progressive external ophthalmoparesis;    Ataxia;    Mitochondrial dysfunction;    Parkinsonism;    POLG;   

Others  :  1122608
DOI  :  10.1186/1471-2350-14-105

 received in 2013-03-05, accepted in 2013-09-25,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Bandettini di Poggio et al.; licensee BioMed Central Ltd.

【 图 表 】

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