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.

引用

页数：4

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