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.
BMC Med Genet. 2013 Oct 7;14:105. doi: 10.1186/1471-2350-14-105.
Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.
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.
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.
氧化磷酸化障碍影响了 1/5000 的个体，并表现出对高度依赖于 ATP 产生的组织的异质性累及。
这里我们介绍了一位 48 岁女性的病例，她携带线粒体聚合酶γ（POLG）的纯合突变（p.A899T），表现出复杂的神经表型，包括对多巴胺激动剂有反应的帕金森病。
本病例报告进一步证明了线粒体功能障碍可能在帕金森病发病机制中起作用，并有助于确定明显的突变特异性临床特征。当发现多系统神经受累时，应在帕金森病病例中寻找 POLG 突变。
