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Title: 17p duplicated Charcot-Marie-Tooth 1A - Characteristics of a new population
Authors: Marques, W.
Freitas, M. R.
Nascimento, OJM
Oliveira, A. B.
Calia, L.
Melo, A.
Lucena, R.
Rocha, V
Barreira, A. A.
Universidade de São Paulo (USP)
Universidade Federal Fluminense (UFF)
Universidade Federal de São Paulo (UNIFESP)
Universidade Federal da Bahia (UFBA)
Keywords: Charcot-Marie-Tooth 1A
demyelinating neuropathy
hereditary motor and sensory neuropathy
nerve conduction studies
17p11-2-p12 duplication
Issue Date: 1-Aug-2005
Publisher: Dr Dietrich Steinkopff Verlag
Citation: Journal of Neurology. Darmstadt: Dr Dietrich Steinkopff Verlag, v. 252, n. 8, p. 972-979, 2005.
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.
ISSN: 0340-5354
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