ArticleJournal of neurology2005
17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.
Article in Journal of neurology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Brazilian Academy of Neurology recommendations for diagnosis, management, and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).Arquivos de neuro-psiquiatria · 2025Guideline
- Charcot-Marie-Tooth disease, psychiatric indicators and quality of life: a systematic review.ASN neuro · 2014Pooled it
- Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.Chemical reviews · 2026Review
- First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.Archives of Iranian medicine · 2024Article
- An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication.Internal medicine (Tokyo, Japan) · 2024Article
- Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.Arquivos de neuro-psiquiatria · 2023Review
- Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A.Arquivos de neuro-psiquiatria · 2021Article
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.Frontiers in genetics · 2021Article
- Genetic modifiers and phenotypic variability in neuromuscular disorders.Journal of applied genetics · 2020Review
- Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.Muscle & nerve · 2018Article
- Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A.Journal of neurology · 2015Article
- An observational study of asymmetry in CMT1A.Journal of neurology, neurosurgery, and psychiatry · 2015Observational
- The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.Molecular genetics & genomic medicine · 2014Article
- PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Orphanet journal of rare diseases · 2014Review
- AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2014Article
- Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.BMC medical genetics · 2014Article
- A review of genetic counseling for Charcot Marie Tooth disease (CMT).Journal of genetic counseling · 2013Review
- Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children.Journal of the peripheral nervous system : JPNS · 2011Article
- New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.Journal of neurology · 2011Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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