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Article

Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Oct 2018

Wu Rui, Fu Jun, Meng Lingchao, Lv He, Wang Zhaoxia, Yuan Yun

Abstract excerpt

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...

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Identifiers

PMID: 30011089
DOI: 10.1111/neup.12487

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MFN2

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