Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
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DOI：
10.1016/j.nmd.2008.05.009
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发表时间：
2008-08-01
影响因子：
2.8
通讯作者：
Wong, Lee-Jun C.
中科院分区：
文献类型：
--
作者：
Milone, Margherita;Brunetti-Pierri, Nicola;Wong, Lee-Jun C.
POLG基因突变导致线粒体DNA（mtDNA）完整性改变（包括线粒体DNA多重缺失和缺失）的广泛临床疾病。POLG基因突变引起的感觉性共济失调性神经病伴眼轻瘫（SANDO），临床表现为感觉性共济失调性神经病、构音障碍和/或吞咽困难和眼轻瘫三联征，已有报道。在这里，我们描述了五例成人发病的常染色体隐性遗传性感觉共济失调性神经病眼肌麻痹。所有患者均有共济失调、神经病变、肌病和进行性眼外肌麻痹（PEO）。肌肉病理学显示，在三名患者的碎布红色和细胞色素c氧化酶（考克斯）阴性纤维。然而，在任何患者的肌肉样本中均未检测到线粒体呼吸链酶复合物活性的缺陷。在血液和肌肉标本中检测到多个mtDNA缺失，但未发现mtDNA缺失。由于这些诊断困难，POLG相关综合征的确诊是基于POLG基因中存在有害突变。(C)2008由爱思唯尔公司出版
Mutations in POLG gene are responsible for a wide spectrum of clinical disorders with altered mitochondrial DNA (mtDNA) integrity, including mtDNA multiple deletions and depletion. Sensory ataxic neuropathy with ophthalmoparesis (SANDO) caused by mutations in POLG gene, fulfilling the clinical triad of sensory ataxic neuropathy, dysarthria and/or dysphagia and ophthalmoparesis, has described in a few reports. Here we described five cases of adult onset autosomal recessive sensory ataxic neuropathy with ophthalmoplegia. All patients had ataxia, neuropathy, myopathy, and progressive external ophthalmoplegia (PEO). The muscle pathology revealed ragged-red and cytochrome c oxidase (COX) negative fibers in three patients. However, deficiencies in the activities of mitochondrial respiratory chain enzyme complexes were not detected in any of the patients' muscle samples. Multiple deletions of mtDNA were detected in blood and muscle specimens but mtDNA depletion was not found. Due to these diagnostic difficulties, POLG-related syndromes are definitively diagnosed based on the presence of deleterious mutations in the POLG gene. (C) 2008 Published by Elsevier B.V.