title: Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.affiliation: Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Fabrizi
authors.affiliation: Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Bisogni
authors.affiliation: Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Romano
authors.affiliation: Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Taioli
authors.affiliation: Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.
authors.forename: Moreno
authors.initials: M
authors.lastname: Ferrarini
authors.affiliation: Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Bernardo
authors.affiliation: 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.
authors.forename: Paolo Maria
authors.initials: PM
authors.lastname: Rossini
authors.affiliation: 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.
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D015331:Cohort Studies; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult
keywords: CMT2/dHMN; Charcot-Marie-Tooth (CMT); Clinical phenotype; Distal hereditary motor neuropathy (dHMN); Neuropathy; Neurophysiology