Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
- 作者：Giuliana Galassi ; Eleonora Lamantea ; Federica Invernizzi ; Federica Tavani ; Isabella Pisano ; Ileana Ferrero ; Luigi Palmieri ; Massimo Zeviani
- 关键词：Mitochondrial DNA ; mtDNA multiple deletions ; Progressive external ophthalmoplegia ; Sensory– ; cerebellar ataxia ; ANT1 ; POLG1
- 刊名：Neuromuscular Disorders
- 出版年：2008
- 期刊代码：203_09608966
- 类别：med
- 出版时间：June 2008
- 卷：18
- 期：6
- 页码：465-470
- 文件大小：408 K
摘要
MtDNA instability is associated with a wide spectrum of clinical presentations, from dominant or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-cerebellar ataxia and epilepsy (SCAE) or infantile Alpers–Huttenlocher syndrome. We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. This complex phenotype is the result of mutations in two distinct proteins, ANT1 and PolγA, which cause additive, deleterious effects on mtDNA maintenance and integrity.