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

被引：18
|
作者：
di Poggio, Monica Bandettini [1 ,2 ]
Nesti, Claudia [3 ]
Bruno, Claudio [4 ]
Meschini, Maria Chiara [3 ]
Schenone, Angelo [1 ,2 ]
Santorelli, Filippo M. [3 ]
机构：
[1] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, I-316132 Genoa, Italy
[2] Univ San Martino IST, IRCSS Azienda Opedaliera, I-316132 Genoa, Italy
[3] IRCCS Stella Maris Fdn, UOC Mol Med Neurodegenerat & Neuromuscular Dis, Calambrone, Pisa, Italy
[4] IRCCS G Gaslini Inst, Unit Muscular & Neurodegenerat Dis, Genoa, Italy
来源：
BMC MEDICAL GENETICS | 2013年 / 14卷
关键词：
POLG; Parkinsonism; Mitochondrial dysfunction; Ataxia; Progressive external ophthalmoparesis; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; POLYMERASE-GAMMA; MITOCHONDRIAL DYSFUNCTION; DISEASE; TREMOR; GENE;
D O I：
10.1186/1471-2350-14-105
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
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.
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页数：4
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