Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

Marco Luigetti; Gian Maria Fabrizi; Giulia Bisogni; Angela Romano; Federica Taioli; Moreno Ferrarini; Daniela Bernardo; Paolo Maria Rossini; Mario Sabatelli

doi:10.1016/j.clineuro.2016.03.007

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

Clin Neurol Neurosurg. 2016 May:144:67-71. doi: 10.1016/j.clineuro.2016.03.007. Epub 2016 Mar 9.

Authors

Marco Luigetti¹, Gian Maria Fabrizi², Giulia Bisogni³, Angela Romano³, Federica Taioli², Moreno Ferrarini², Daniela Bernardo³, Paolo Maria Rossini⁴, Mario Sabatelli⁵

Affiliations

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.

PMID: 26989944
DOI: 10.1016/j.clineuro.2016.03.007

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.

Keywords: CMT2/dHMN; Charcot-Marie-Tooth (CMT); Clinical phenotype; Distal hereditary motor neuropathy (dHMN); Neuropathy; Neurophysiology.

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Charcot-Marie-Tooth Disease / diagnosis
Charcot-Marie-Tooth Disease / epidemiology*
Charcot-Marie-Tooth Disease / genetics*
Child
Cohort Studies
Female
Hereditary Sensory and Motor Neuropathy / diagnosis
Hereditary Sensory and Motor Neuropathy / epidemiology*
Hereditary Sensory and Motor Neuropathy / genetics*
Humans
Male
Middle Aged
Retrospective Studies
Young Adult