Sural nerve pathology in TFG TFG ‐associated motor neuron disease with sensory neuropathy

Li Jia; Meng Lingchao; Wu Rui; Xie Zhiying; Gang Qiang; Zhang Wei; Wang Zhaoxia; Yuan Yun

首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Sural nerve pathology in TFG TFG ‐associated motor neuron disease with sensory neuropathy

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Sural nerve pathology in TFG TFG ‐associated motor neuron disease with sensory neuropathy

机译：TFG TFG -Associated Motor神经元疾病中的血管神经病理学与感官神经病变

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The tropomyosin‐receptor kinase fused gene ( TFG ) functions in vesicles formation and egress at the endoplasmic reticulum (ER). A heterozygous missense mutation c.854C??T (p.Pro285Leu) within TFG has been reported as causative for hereditary motor and sensory neuropathy with proximal predominance. Here, we describe two unrelated Chinese pedigrees with 13 affected members harboring the same variant. The clinical, electrophysiological and pathological findings are consistent with motor neuron disease with sensory neuropathy. The main symptoms were painful muscle cramps, slowly progressive proximal predominant weakness, muscle atrophy, fasciculation and distal sensory disturbance. Electromyography revealed widespread denervation and reinnervation. Sural nerve biopsy revealed severe loss of myelinated fibers. Electron microscopy revealed aggregation of ER with enlarged lumen and small vesicles in the remaining myelinated and unmyelinated axons. The mitochondria are smaller in Schwann cells and axons. Some unmyelinated axons showed disappearance of neurofilament and microtubular structures. This is the first report of c.854C??T mutation within TFG in Chinese population. Our findings not only extend the geographical and phenotypic spectrum of TFG‐ related neurological disorders, but also confirm the abnormalities of ER and mitochondria in sural nerves.

机译：在内质网（ER）中的囊泡形成和出口中的卵泡氰基受体激酶融合基因（TFG）效用。杂合的畸形突变C.854C？＆βt（p.pro285Leu）在TFG内被报告为遗传性马达和具有近端优势的感觉神经病变的致病性。在这里，我们描述了两个有13名受影响成员的无关的中国章鱼，涉及相同的变体。临床，电生理和病理学发现与具有感觉神经病变的运动神经元疾病一致。主要症状是痛苦的肌肉痉挛，慢慢进行近端的近似弱点，肌肉萎缩，束束和远端感官障碍。肌电学术揭示了广泛的假期和重新生成。血管神经活检显示严重损失髓鞘纤维。电子显微镜显示ER的聚集在剩余的髓鞘和未填充的轴突中的扩大内腔和小囊泡。施旺细胞和轴突中线粒体较小。一些未填充的轴突显示出神经丝和微管结构的消失。这是C.854C的第一个报告＆Δt中的中国人口TFG中的突变。我们的发现不仅延长了TFG-相关神经系统疾病的地理和表型谱，而且还证实了苏仑神经中ER和线粒体的异常。

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来源
《Neuropathology: official journal of the Japanese Society of Neuropathology》 |2019年第3期|共6页
作者
Li Jia; Meng Lingchao; Wu Rui; Xie Zhiying; Gang Qiang; Zhang Wei; Wang Zhaoxia; Yuan Yun;
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作者单位

Department of NeurologyPeking University First HospitalBeijing China;

Department of NeurologyPeking University First HospitalBeijing China;

Department of NeurologyPeking University First HospitalBeijing China;

Department of NeurologyPeking University First HospitalBeijing China;

Department of NeurologyPeking University First HospitalBeijing China;

Department of NeurologyPeking University First HospitalBeijing China;

Department of NeurologyPeking University First HospitalBeijing China;

Department of NeurologyPeking University First HospitalBeijing China;

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正文语种 eng
中图分类神经病学与精神病学;
关键词
CMT; hereditary motor and sensory neuropathy with proximal predominance (HMSN‐P); motor neuron disease with sensory neuropathy; p.Pro285Leu mutation; TFG;

机译：CMT;遗传性马达和感觉神经病变;具有近端优势（HMSN-P）;具有感觉神经病变的运动神经病;P.Pro285Leu突变;TFG;

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专利

1. Sural nerve pathology in TFG TFG ‐associated motor neuron disease with sensory neuropathy [J] . Li Jia, Meng Lingchao, Wu Rui, Neuropathology: official journal of the Japanese Society of Neuropathology . 2019,第3期

机译：TFG TFG -Associated Motor神经元疾病中的血管神经病理学与感官神经病变
2. Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG TFG mutation [J] . Khani Marzieh, Taheri Hanieh, Shamshiri Hosein, American journal of medical genetics, Part A . 2019,第8期

机译：具有TFG TFG突变的近端优势和Charcot-Marie-Turn患者的遗传运动和感官神经病变的连续体
3. TFG TFG : At the crossroads of motor neuron disease and myopathy [J] . Nicolau Stefan, Liewluck Teerin Muscle and Nerve . 2019,第6期

机译：TFG TFG：在运动神经元疾病和肌病的十字路口
4. SWATH analysis of patient-derived iPSC to motor neurons for the discovery of protein network perturbations that underlie motor neuron diseases [C] . Andrea D. Matlock, Berhan Mandefro, Loren Ornelas, ASMS Conference on Mass Spectrometry and Allied Topics . 2015

机译：对运动神经元的患者衍生的IPSC的SWATH分析，用于发现蛋白质网络扰动的蛋白质网络扰动
5. The role of glyoxalase I in hyperglycemia-induced sensory neuron damage and development of diabetic sensory neuropathy symptoms. [D] . Jack, Megan Marie. 2011

机译：乙二醛酶I在高血糖诱导的感觉神经元损害和糖尿病感觉神经病症状发展中的作用。
6. High-Resolution Ultrasonography of the Superficial Peroneal Motor and Sural Sensory Nerves May Be a Non-invasive Approach to the Diagnosis of Vasculitic Neuropathy [O] . Nurcan Üçeyler, Kristina A. Schäfer, Daniel Mackenrodt, 2016

机译：腓骨浅运动和神经感觉神经的高分辨率超声检查可能是诊断血管性神经病变的一种非侵入性方法。
7. High-Resolution Ultrasonography of the Superficial Peroneal Motor and Sural Sensory Nerves May Be a Non-invasive Approach to the Diagnosis of Vasculitic Neuropathy [O] . Üçeyler, Nurcan, Schäfer, Kristina A., Mackenrodt, Daniel, 2017

机译：腓骨浅运动和神经感觉神经的高分辨率超声检查可能是诊断血管性神经病变的一种非侵入性方法。

Sural nerve pathology in TFG TFG ‐associated motor neuron disease with sensory neuropathy

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