期刊
CLINICAL NEUROLOGY AND NEUROSURGERY
卷 144, 期 -, 页码 67-71出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.clineuro.2016.03.007
关键词
Charcot-Marie-Tooth (CMT); Distal hereditary motor neuropathy (dHMN); CMT2/dHMN; Neuropathy; Neurophysiology; Clinical phenotype
Objectives: CMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2). Distal Hereditary Motor Neuropathy (dHMN) is a motor neuropathy/neuronopathy which resembles CMT. Final genetic diagnosis is poor in CMT2 and in dHMN when compared with CMT1. Our aim is to report clinical, neurophysiological and genetic findings in a cohort of patients with axonal inherited neuropathies. Patients and methods: We report clinical, neurophysiological and genetic findings from 45 patients with CMT2 or dHMN, coming from 39 unrelated families, observed in our Institute of Neurology over a 20-year period. Results: Clinical and electrophysiological examinations showed that 38 patients had CMT2 and 7 patients presented dHMN. Extensive genetic evaluation showed 6 mutations in MFN2, 4 mutations in HSPB1, 2 mutations in BSCL2, 3 mutations in GJB1, 1 mutation in MPZ. Conclusion: Since next-generation sequencing will not be easily accessible, epidemiological data and clinical phenotyping remain the best strategy for clinicians to reach a correct genetic diagnosis in CMT2 and dHMN patients. (C) 2016 Elsevier B.V. All rights reserved.
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