Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) ranks as the second most prevalent hereditary neuropathy and, currently, has no definitive cure. Emerging preclinical trials offer hope for potential clinical studies in the near future. While it is widely accepted that experimental groups in these...

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Published in:European journal of neurology 2024-11, Vol.32 (1), p.e16523
Main Authors: Barbat du Closel, Luce, Bonello-Palot, Nathalie, Delmont, Emilien, Péréon, Yann, Echaniz-Laguna, Andoni, Camdessanché, Jean Philippe, Pakleza, Aleksandra Nadaj, Chanson, Jean-Baptiste, Frachet, Simon, Magy, Laurent, Cassereau, Julien, Cintas, Pascal, Choumert, Ariane, Devic, Perrine, Louis, Sarah Léonard, Tard, Céline, Solé, Guilhem, Salort-Campana, Emmanuelle, Bouhour, Françoise, Latour, Philippe, Stojkovic, Tanya, Attarian, Shahram
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - physiopathology
Child
Child, Preschool
Cohort Studies
Female
France
Genetic Association Studies
Genotype
Humans
Male
Middle Aged
Mutation
Neural Conduction - genetics
Neural Conduction - physiology
Phenotype
Retrospective Studies
Young Adult
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Summary:X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) ranks as the second most prevalent hereditary neuropathy and, currently, has no definitive cure. Emerging preclinical trials offer hope for potential clinical studies in the near future. While it is widely accepted that experimental groups in these trials should be balanced for age and gender, there is a current shortfall in data regarding phenotype-genotype correlations. Our aim was to provide a more detailed understanding of these correlations to facilitate the formation of well-matched patient groups in upcoming clinical trials. We conducted a retrospective evaluation of CMTX1 patients from 13 designated reference centers in France. Data on genetics, clinical features, and nerve conduction were systematically gathered. We analyzed the genotype-phenotype correlations in 275 CMTX1 patients belonging to 162 families and carrying 87 distinct variants. Patients with variants affecting the transmembrane domains demonstrated significantly greater severity, as evidenced by a Charcot-Marie-Tooth Examination Score of 10.5, compared to 7.1 for those with intracellular domain variants and 8.7 for extracellular domain variants (p 
ISSN:1351-5101
1468-1331
1468-1331
DOI:10.1111/ene.16523