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

MARQUES, Wilson JR ; FREITAS, Marcos R ; NASCIMENTO, Osvaldo J. M ; OLIVEIRA, Acary B ; CALIA, Leandro ; MELO, Ailton ; LUCENA, Rita ; ROCHA, Vera ; BARREIRA, Amilton A

Journal of neurology, 2005-08, Vol.252 (8), p.972-979 [Periódico revisado por pares]

Berlin: Springer

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Título:
17p duplicated Charcot-Marie-Tooth 1A : Characteristics of a new population
Autor: MARQUES, Wilson JR ; FREITAS, Marcos R ; NASCIMENTO, Osvaldo J. M ; OLIVEIRA, Acary B ; CALIA, Leandro ; MELO, Ailton ; LUCENA, Rita ; ROCHA, Vera ; BARREIRA, Amilton A
Assuntos: Adolescent ; Adult ; Biological and medical sciences ; Brazil - epidemiology ; Charcot-Marie-Tooth Disease - epidemiology ; Charcot-Marie-Tooth Disease - genetics ; Charcot-Marie-Tooth Disease - physiopathology ; Child ; Child, Preschool ; Chromosomes, Human, Pair 17 ; Demography ; Electric Stimulation - methods ; Family Health ; Female ; Gene Duplication ; Humans ; Immunomodulators ; Infant ; Investigative techniques, diagnostic techniques (general aspects) ; Male ; Medical sciences ; Middle Aged ; Muscle, Skeletal - physiopathology ; Nervous system ; Neural Conduction - physiology ; Neurology ; Pharmacology. Drug treatments ; Radiodiagnosis. Nmr imagery. Nmr spectrometry ; Reaction Time - physiology ; Reaction Time - radiation effects
É parte de: Journal of neurology, 2005-08, Vol.252 (8), p.972-979
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: 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.
Editor: Berlin: Springer
Idioma: Inglês

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

MARQUES, Wilson JR ; FREITAS, Marcos R ; NASCIMENTO, Osvaldo J. M ; OLIVEIRA, Acary B ; CALIA, Leandro ; MELO, Ailton ; LUCENA, Rita ; ROCHA, Vera ; BARREIRA, Amilton A

Berlin: Springer

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