title: Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
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.
authors.affiliation: Service de Neurologie, CHU Poitiers, Université de Poitiers, 2 rue de la Milétrie, 86021 Poitiers, France. Electronic address: stephane.mathis@chu-poitiers.fr.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mathis
authors.affiliation: Service de Neurologie, CHU Tours, 2 boulevard Tonnellé, 37044 Tours, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Corcia
authors.affiliation: Laboratoire de Recherche de Neurosciences, Université d'Alger, Service de Neurologie, Centre Hospitalier Universitaire Mustapha, 1 place du 1er Mai, Algiers 16000, Algeria.
authors.forename: Meriem
authors.initials: M
authors.lastname: Tazir
authors.affiliation: Service de Neurologie B, Hôpital Gui de Chauliac, 34295 Montpelliers cedex 5, France.
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire, CHU Limoges, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Magdelaine
authors.affiliation: Département de Biochimie, Centre de Biologie Est, Hospices Civils de Lyon, F-69500 Bron, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Latour
authors.affiliation: Service de Neurologie, CHU Tours, 2 boulevard Tonnellé, 37044 Tours, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Biberon
authors.affiliation: Service de Neurologie, CHU Tours, 2 boulevard Tonnellé, 37044 Tours, France.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Guennoc
authors.affiliation: Centre de référence «neuropathies périphériques rares», service et laboratoire de Neurologie, CHU Limoges, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Richard
authors.affiliation: Centre de référence «neuropathies périphériques rares», service et laboratoire de Neurologie, CHU Limoges, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Magy
authors.affiliation: Laboratoire de Biochimie et Génétique Moléculaire, CHU Limoges, France; Centre de référence «neuropathies périphériques rares», service et laboratoire de Neurologie, CHU Limoges, France.
authors.forename: Benoît
authors.initials: B
authors.lastname: Funalot
authors.affiliation: Centre de référence «neuropathies périphériques rares», service et laboratoire de Neurologie, CHU Limoges, France.
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Vallat
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human
keywords: CMT1A; Charcot-Marie-Tooth disease; HNPP; PMP22; Tomacula