Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.

Autor: Arntzen KA; Department of Neurology, University Hospital of North Norway, Norway; National Neuromuscular Centre, University Hospital of North Norway, Norway. Electronic address: kjell.arne.arntzen@unn.no., Høyer H; Department of Medical Genetics, Telemark Hospital, Norway., Ørstavik K; Unit for Congenital and Hereditary Neuromuscular Conditions (EMAN), Department of Neurology, Oslo University Hospital, Norway., Tallaksen C; Department of Neurology, Oslo University Hospital and Oslo University, Faculty of Medicine, Norway., Vedeler C; Department of Neurology, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen, Norway., Østern R; Department of Medical Genetics, St. Olavs Hospital, Norway., Nebuchennykh M; Department of Neurology, University Hospital of North Norway, Norway; National Neuromuscular Centre, University Hospital of North Norway, Norway., Braathen GJ; Department of Medical Genetics, Telemark Hospital, Norway., Fagerheim T; National Neuromuscular Centre, University Hospital of North Norway, Norway; Department of Medical Genetics, University Hospital of North Norway, Norway.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2018 Aug; Vol. 28 (8), pp. 639-645. Date of Electronic Publication: 2018 Jun 15.
DOI: 10.1016/j.nmd.2018.06.004
Abstrakt: Autosomal recessive Charcot-Marie-Tooth disease (CMT) is considered rare and phenotypic descriptions are scarce for the different subgroups. Mutations in the SH3TC2 gene, causing recessive demyelinating CMT type 4C have been found in several Norwegian CMT patients over the last years. We aimed to estimate a minimum prevalence and to study the genotypic and phenotypic variability of CMT4C in Norway. Patients were selected from diagnostic registries in medical genetic centers in Norway for cases of CMT4C. All patients were invited to complete a questionnaire and give medical consent to the use of clinical data from medical hospital records. A total of 35 patients from 31 families were found with CMT4C, which gives a minimum prevalence of 0.7/100,000 in Norway. Six new mutations were identified. Most patients had debut in the first decade with foot deformities, distal limb paresis, sensory ataxia and scoliosis. Proximal lower limb paresis and cranial nerve involvement was seen in about half of the patients. CMT4C is the most common recessive CMT in Norway. In addition to the classic distal limb affection, early debut, scoliosis, proximal paresis, cranial nerve affection and sensory ataxia are the most prominent features of CMT4C.
(Copyright © 2018 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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