Marco Luigetti1, Gian Maria Fabrizi2, Giulia Bisogni3, Angela Romano3, Federica Taioli2, Moreno Ferrarini2, Daniela Bernardo3, Paolo Maria Rossini4, Mario Sabatelli5. 1. Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy. Electronic address: mluigetti@gmail.com. 2. Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy. 3. Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy. 4. Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; IRCCS S. Raffaele-Pisana, Rome and Casa di Cura S. Raffaele Cassino, Rome, Italy. 5. Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; Centro Clinico NEMO, Rome, Italy.
Abstract
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.
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 dHMNpatients.
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