Tags

Type your tag names separated by a space and hit enter

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.CN

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.

Authors+Show Affiliations

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.Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy.Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.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.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.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26989944

Citation

Luigetti, Marco, et al. "Charcot-Marie-Tooth Type 2 and Distal Hereditary Motor Neuropathy: Clinical, Neurophysiological and Genetic Findings From a Single-centre Experience." Clinical Neurology and Neurosurgery, vol. 144, 2016, pp. 67-71.
Luigetti M, Fabrizi GM, Bisogni G, et al. Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. Clin Neurol Neurosurg. 2016;144:67-71.
Luigetti, M., Fabrizi, G. M., Bisogni, G., Romano, A., Taioli, F., Ferrarini, M., Bernardo, D., Rossini, P. M., & Sabatelli, M. (2016). Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. Clinical Neurology and Neurosurgery, 144, 67-71. https://doi.org/10.1016/j.clineuro.2016.03.007
Luigetti M, et al. Charcot-Marie-Tooth Type 2 and Distal Hereditary Motor Neuropathy: Clinical, Neurophysiological and Genetic Findings From a Single-centre Experience. Clin Neurol Neurosurg. 2016;144:67-71. PubMed PMID: 26989944.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience. AU - Luigetti,Marco, AU - Fabrizi,Gian Maria, AU - Bisogni,Giulia, AU - Romano,Angela, AU - Taioli,Federica, AU - Ferrarini,Moreno, AU - Bernardo,Daniela, AU - Rossini,Paolo Maria, AU - Sabatelli,Mario, Y1 - 2016/03/09/ PY - 2016/01/20/received PY - 2016/02/28/revised PY - 2016/03/08/accepted PY - 2016/3/19/entrez PY - 2016/3/19/pubmed PY - 2017/1/6/medline KW - CMT2/dHMN KW - Charcot-Marie-Tooth (CMT) KW - Clinical phenotype KW - Distal hereditary motor neuropathy (dHMN) KW - Neuropathy KW - Neurophysiology SP - 67 EP - 71 JF - Clinical neurology and neurosurgery JO - Clin Neurol Neurosurg VL - 144 N2 - 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. SN - 1872-6968 UR - https://www.unboundmedicine.com/medline/citation/26989944/Charcot_Marie_Tooth_type_2_and_distal_hereditary_motor_neuropathy:_Clinical_neurophysiological_and_genetic_findings_from_a_single_centre_experience_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-8467(16)30097-X DB - PRIME DP - Unbound Medicine ER -