title: 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.
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.
authors.affiliation: School of Medicine of Ribeirão Preto, University of São Paulo, Department of Neurology, 3900 Ribeirão Preto, São Paulo, Brazil CEP 14048-900. wmjunior@fmrp.usp.br
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
authors.forename: Marcos R
authors.initials: MR
authors.lastname: Freitas
authors.forename: Osvaldo J M
authors.initials: OJ
authors.lastname: Nascimento
authors.forename: Acary B
authors.initials: AB
authors.lastname: Oliveira
authors.forename: Leandro
authors.initials: L
authors.lastname: Calia
authors.forename: Ailton
authors.initials: A
authors.lastname: Melo
authors.forename: Rita
authors.initials: R
authors.lastname: Lucena
authors.forename: Vera
authors.initials: V
authors.lastname: Rocha
authors.forename: Amilton A
authors.initials: AA
authors.lastname: Barreira
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D003710:Demography; D004558:Electric Stimulation / Q000379:methods; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D011930:Reaction Time / Q000502:physiology / Q000528:radiation effects