17p duplicated Charcot-Marie-Tooth 1A - Characteristics of a new population

17p duplicated Charcot-Marie-Tooth 1A - Characteristics of a new population

Autor Marques, W. Google Scholar
Freitas, M. R. Google Scholar
Nascimento, OJM Google Scholar
Oliveira, A. B. Google Scholar
Calia, L. Google Scholar
Melo, A. Google Scholar
Lucena, R. Google Scholar
Rocha, V Google Scholar
Barreira, A. A. Google Scholar
Instituição Universidade de São Paulo (USP)
Universidade Federal Fluminense (UFF)
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal da Bahia (UFBA)
Resumo The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations. in this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20% of the duplicated cases were sporadic. in 77% of the duplicated families the mutation event occurred in the hot spot area of the CMT1A-Rep region. Forty-five percent of patients were females, 84% were Caucasians and 13% of African descent. Distal limb weakness was the most frequent abnormality, appearing in 84% of patients, although uncommon manifestations such as severe proximal weakness, floppy baby syndrome, diaphragmatic weakness and severe scoliosis were also observed. One patient was wheelchair-bound, and three suffered severe hand weakness. Sensory abnormalities were detected in 84% of the cases, but 80% were unaware of this impairment. Twelve patients complained of positive sensory manifestations such as pain and paresthesias. Progression was reported by 40%. Motor conduction velocities in the upper limbs were always less than 35 m/s, and less than 30.4 m/s in the peroneal nerve. the findings of this study expand the clinical spectrum of the disease.
Palavra-chave Charcot-Marie-Tooth 1A
demyelinating neuropathy
hereditary motor and sensory neuropathy
nerve conduction studies
17p11-2-p12 duplication
Idioma Inglês
Data de publicação 2005-08-01
Publicado em Journal of Neurology. Darmstadt: Dr Dietrich Steinkopff Verlag, v. 252, n. 8, p. 972-979, 2005.
ISSN 0340-5354 (Sherpa/Romeo, fator de impacto)
Publicador Dr Dietrich Steinkopff Verlag
Extensão 972-979
Fonte http://dx.doi.org/10.1007/s00415-005-0797-9
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000231307700017
Endereço permanente http://repositorio.unifesp.br/handle/11600/28399

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