Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
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DOI：
10.1155/2015/239167
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发表时间：
2015
影响因子：
--
通讯作者：
Swenson A
中科院分区：
文献类型：
--
作者：
Jerath NU;Crockett CD;Moore SA;Shy ME;Weihl CC;Chou TF;Grider T;Gonzalez MA;Zuchner S;Swenson A
导言。含有Valosin的蛋白(VCP)调节几个不同的细胞过程。与此一致的是，VCP突变在家庭内部和家庭中表现出不同的临床表型，是诊断的挑战。方法：研究方法。对一名50岁左右打冰球的60岁男子S进行了电诊断、肌肉活检和分子遗传学检查。结果。我们的患者在52岁时出现进行性虚弱、抽筋、记忆力减退和感觉异常。在58岁时反复检查发现轴突感觉运动神经病。神经病变的组织病理学存在于股四头肌，外显子组测序显示VCP突变c.290C>；T，p.Gly97Glu。结论。我们的患者反映了VCP突变的临床异质性，因为他的神经定位介于低位运动神经元疾病和遗传性轴索周围神经病(如CMT2)之间。我们的病例表现为罕见的c.290C>；T，pGly97Glu VCP突变。
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50's was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics. Results. With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. Conclusions. Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C>T, pGly97Glu VCP mutation.