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

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dc.contributor.author Marques, W.
dc.contributor.author Freitas, M. R.
dc.contributor.author Nascimento, OJM
dc.contributor.author Oliveira, A. B.
dc.contributor.author Calia, L.
dc.contributor.author Melo, A.
dc.contributor.author Lucena, R.
dc.contributor.author Rocha, V
dc.contributor.author Barreira, A. A.
dc.date.accessioned 2016-01-24T12:37:59Z
dc.date.available 2016-01-24T12:37:59Z
dc.date.issued 2005-08-01
dc.identifier http://dx.doi.org/10.1007/s00415-005-0797-9
dc.identifier.citation Journal of Neurology. Darmstadt: Dr Dietrich Steinkopff Verlag, v. 252, n. 8, p. 972-979, 2005.
dc.identifier.issn 0340-5354
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/28399
dc.description.abstract 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. en
dc.format.extent 972-979
dc.language.iso eng
dc.publisher Dr Dietrich Steinkopff Verlag
dc.relation.ispartof Journal of Neurology
dc.rights Acesso restrito
dc.subject Charcot-Marie-Tooth 1A en
dc.subject demyelinating neuropathy en
dc.subject hereditary motor and sensory neuropathy en
dc.subject nerve conduction studies en
dc.subject 17p11-2-p12 duplication en
dc.title 17p duplicated Charcot-Marie-Tooth 1A - Characteristics of a new population en
dc.type Artigo
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Universidade Federal Fluminense (UFF)
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Universidade Federal da Bahia (UFBA)
dc.description.affiliation Univ São Paulo, Sch Med Ribeirao Preto, Dept Neurol, BR-14048900 São Paulo, Brazil
dc.description.affiliation Univ Fed Fluminense, Sch Med, Dept Neurol, BR-24220100 Rio de Janeiro, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Sch Med, Dept Neurol, BR-0403931 São Paulo, Brazil
dc.description.affiliation Univ Fed Bahia, Sch Med, Fac Med, Dept Neurol, Salvador, BA, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Sch Med, Dept Neurol, BR-0403931 São Paulo, Brazil
dc.identifier.doi 10.1007/s00415-005-0797-9
dc.description.source Web of Science
dc.identifier.wos WOS:000231307700017



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