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Neuropediatrics 2021; 52(05): 351-357
DOI: 10.1055/s-0041-1723759
Original Article

Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth's Disease Type 2A

C. Majorel-Beraud‡   *
1   Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, Toulouse University Hospital Center, Toulouse, France
,
E. Baudou   *
1   Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, Toulouse University Hospital Center, Toulouse, France
,
U. Walther-Louvier
2   Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital Gui de Chauliac, Montpellier University Hospital Center, Montpellier, France.
,
C. Espil-Taris
3   Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, University Hospital Center Pellegrin, Bordeaux, France
,
P. Beze-Beyrie
4   Unit of Pediatrics, Centre Hospitalier de Pau, Pau, France
,
P. Cintas
5   Department of Neurology, Pierre Paul Riquet Hospital, University Hospital Center Purpan, Toulouse, France
,
F. Rivier
2   Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital Gui de Chauliac, Montpellier University Hospital Center, Montpellier, France.
,
C. Cances
1   Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, Toulouse University Hospital Center, Toulouse, France
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Abstract

Charcot–Marie–Tooth's disease type 2A (MCT2A), induced by mutation of the mitofusin 2 (MFN2) gene represents the main cause of MCT2. The aim of this study is to provide details of the clinical and electromyographic phenotype of MCT2A in a pediatric population. We conducted a French multicenter retrospective study, including all children with a genetic diagnosis of MCT2A. Thirteen MCT2A children were included with a beginning of symptoms before the age of 10 years (“early-onset group”). We report two new mutations: c.1070 A → T (p.Lys357.Met) and c.280 C → G (p.Arg94Gly). The evolution of the disease is marked by a fast worsening for three patients with loss of motor autonomy, while the evolution is relatively stable for eight patients. The group of early-onset MCT2A seems more heterogeneous than previously described, with a nonconstant severe phenotype.

Keywords

neuropathy - Charcot–Marie–Tooth - mitofusin - child - phenotype

* These authors contributed equally to this work.




Publication History

Received: 17 February 2020

Accepted: 10 July 2020

Article published online:
12 February 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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