Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease |
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| Affiliation: | 1. Service de Neurologie, CHU Poitiers, Université de Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France;2. Service de Neurologie, CHU Tours, 2 boulevard Tonnellé, 37044 Tours, France;3. Laboratoire de Recherche de Neurosciences, Université d’Alger, Service de Neurologie, Centre Hospitalier Universitaire Mustapha, 1 place du 1er Mai, Algiers 16000, Algeria;5. Laboratoire de Biochimie et Génétique Moléculaire, CHU Limoges, France;6. Département de Biochimie, Centre de Biologie Est, Hospices Civils de Lyon, F-69500 Bron, France;1. Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, L’Escale, Service de Médecine Physique et de Réadaptation Pédiatrique, Bron F-69500, France;2. Université de Lyon, Lyon F-69000, France;3. Université Lyon I, Villeurbanne F-69100, France;4. CNRS UMR 5558, Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique Santé, Pierre-Bénite F-69310, France;5. Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, service d’imagerie et de radiologie pédiatrique, 69677 Bron Cedex, France;6. Hospices Civils de Lyon, Pôle Information Médicale Évaluation Recherche, Lyon F-69003, France;7. Centre Hospitalier d’Arles, Centre d’Action Médico-Sociale Précoce, Arles F-13637, France;8. Hospices Civils de Lyon, Service de Biostatistique, Lyon F-69003, France;1. Neurology Research Group, Department of Medicine, University of Cape Town, Cape Town, South Africa;2. Cell Biology, Department of Human Biology, University of Cape Town, Cape Town, South Africa;1. Laboratory of Musculoskeletal Cell Biology, Istituto Ortopedico Rizzoli, IOR-IRCCS, Bologna, Italy;2. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan;1. Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK;2. Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, UK;3. Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK;4. Department of Neurological Sciences, University of Bologna, Bologna, Italy;1. Department of Orthopaedic Surgery, New York Medical College-Westchester Medical Center, Valhalla, NY;2. Department of Orthopaedic Surgery, Stamford Hospital, Stamford, CT |
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| Abstract: | Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we report three observations of patients with the 1.4 megabase CMT1A duplication and atypical presentation (electrophysiological, clinical or pathological): a 10 year-old girl with tomaculous lesions on nerve biopsy; a 26 year-old woman with recurrent paresthesiae and block conduction on the electrophysiological study; a 46 year-old woman with transient recurrent nerve palsies mimicking HNPP. These observations highlight the wide spectrum of CMT1A and the overlap between CMT1A and HNPP (both linked to the PMP22 gene), and finally illustrate the complexity of the genotype–phenotype correlations in Charcot-Marie-Tooth diseases. |
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| Keywords: | Charcot-Marie-Tooth disease CMT1A HNPP PMP22 Tomacula |
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