Wu Rui, Fu Jun, Meng Lingchao, Lv He, Wang Zhaoxia, Yuan Yun
Department of Neurology, Peking University First Hospital, Beijing, China.
Neuropathology. 2018 Oct;38(5):463-467. doi: 10.1111/neup.12487. Epub 2018 Jul 16.
Mutations in the Mitofusin 2 (MFN2) gene have been identified in patients with autosomal dominant axonal motor and sensory neuropathy or Charcot-Marie-Tooth 2A (CMT2A). Here we describe clinical and pathological changes in an adult patient with sporadic hereditary sensory and autonomic neuropathy (HSAN) due to an MFN2 mutation. The patient was a 53-year-old man who had sensory involvement and anhidrosis in all limbs without motor features. The electrophysiological assessment documented severe axonal sensory neuropathy. The sural nerve biopsy confirmed the electrophysiological findings, revealing severe loss of myelinated and unmyelinated fibers with regeneration clusters. Genetic analysis revealed the previously identified mutation c.776 G > A in MFN2. Our report expands the phenotypic spectrum of MFN2-related diseases. Sequencing of MFN2 should be considered in all patients presenting with late-onset HSAN.
在常染色体显性遗传性轴索性运动和感觉神经病变或遗传性运动感觉神经病2A型（CMT2A）患者中，已发现线粒体融合蛋白2（MFN2）基因突变。在此，我们描述了一名成年患者因MFN2突变导致散发性遗传性感觉自主神经病变（HSAN）的临床和病理变化。该患者为一名53岁男性，四肢均有感觉障碍和无汗，无运动功能障碍。电生理评估显示严重的轴索性感觉神经病变。腓肠神经活检证实了电生理结果，显示有髓和无髓纤维严重缺失并伴有再生簇。基因分析发现了先前确定的MFN2基因c.776 G > A突变。我们的报告扩展了MFN2相关疾病的表型谱。对于所有迟发性HSAN患者，均应考虑对MFN2进行测序。
