Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation
Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation
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DOI：
10.1136/jmg.2007.052902
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发表时间：
2007-12-01
影响因子：
4
通讯作者：
Chinnery, P. F.
中科院分区：
文献类型：
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作者：
Craig, K.;Elliott, H. R.;Chinnery, P. F.
线粒体DNA （mtDNA）的m.8993T—>C MTATP6突变通常在儿童时期导致线粒体疾病，但最近在一个成人发病共济失调和多发性神经病的家庭中被描述。细胞色素c氧化酶肌肉组织化学是成人线粒体疾病的标准临床研究，在MTATP6突变患者中通常是正常的。这就提出了过去漏掉这些病例的可能性。因此，我们研究了308例不明原因的共济失调患者和96例怀疑患有沙克-玛丽-图斯病的患者，以确定m.8993T- >C MTATP6突变是否在不明原因的遗传性共济失调和/或多发性神经病中常见。我们发现了一个三代人的mtDNA突变为m.8993T- >C的家族。一名受试者有发作性共济失调（EA）和短暂性偏瘫，拓宽了表型。然而，在另外一组191例疑似EA患者中没有发现进一步的病例。总之，在不明原因的共济失调、CMT或EA患者中应考虑m.8993T—>C MTATP6，但病例并不常见。
The m.8993T-->C MTATP6 mutation of mitochondrial DNA ( mtDNA) usually causes mitochondrial disease in childhood, but was recently described in a family with adult onset ataxia and polyneuropathy. Cytochrome c oxidase muscle histochemistry, which is the standard clinical investigation for mitochondrial disease in adults, is usually normal in patients with MTATP6 mutations. This raises the possibility that these cases have been missed in the past. We therefore studied 308 patients with unexplained ataxia and 96 patients with suspected Charcot-Marie-Tooth disease to determine whether the m.8993T-->C MTATP6 mutation is common in unexplained inherited ataxia and/or polyneuropathy. We identified a three-generation family with the m.8993T-->C mutation of mtDNA. One subject had episodic ataxia ( EA) and transient hemipareses, broadening the phenotype. However, no further cases were identified in an additional cohort of 191 patients with suspected EA. In conclusion, m.8993T-->C MTATP6 should be considered in patients with unexplained ataxia, CMT or EA, but cases are uncommon.