Hashiguchi Akihiro, Higuchi Yujiro, Nomura Miwa, Nakamura Tomonori, Arata Hitoshi, Yuan Junhui, Yoshimura Akiko, Okamoto Yuji, Matsuura Eiji, Takashima Hiroshi
Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima City, Japan.
J Peripher Nerv Syst. 2014 Dec;19(4):311-6. doi: 10.1111/jns.12102.
To identify novel mutations causing hereditary motor and sensory neuropathy (HMSN) with pyramidal signs, a variant of Charcot-Marie-Tooth disease (CMT), we screened 28 CMT and related genes in four members of an affected Japanese family. Clinical features included weakness of distal lower limb muscles, foot deformity, and mild sensory loss, then late onset of progressive spasticity. Electrophysiological studies revealed widespread neuropathy. Electron microscopic analysis showed abnormal mitochondria and mitochondrial accumulation in the neurons and Schwann cells. Brain magnetic resonance imaging (MRI) revealed an abnormally thin corpus callosum. In all four, microarrays detected a novel heterozygous missense mutation c.1166A>G (p.Y389C) in the gene encoding the light-chain neurofilament protein (NEFL), indicating that NEFL mutations can result in a HMSN with pyramidal signs phenotype.
为了鉴定导致伴有锥体束征的遗传性运动和感觉神经病（HMSN）（一种夏科-马里-图斯病（CMT）变体）的新突变，我们对一个患病日本家庭的四名成员中的28个CMT及相关基因进行了筛查。临床特征包括下肢远端肌肉无力、足部畸形和轻度感觉丧失，随后逐渐出现进行性痉挛。电生理研究显示广泛的神经病变。电子显微镜分析显示神经元和施万细胞中存在异常线粒体和线粒体聚集。脑磁共振成像（MRI）显示胼胝体异常变薄。在所有四名患者中，微阵列检测到编码轻链神经丝蛋白（NEFL）的基因中存在一个新的杂合错义突变c.1166A>G（p.Y389C），表明NEFL突变可导致伴有锥体束征表型的HMSN。
