ArticleJournal of neurology, neurosurgery, and psychiatry1999
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
Article in Journal of neurology, neurosurgery, and psychiatry, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 85 citations in OpenAlex.
- Article
- Charcot-Marie-Tooth disease in children.Annals of the Child Neurology Society · 2024Review
- AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.Neuromuscular disorders : NMD · 2023Article
- Investigation of Mutations in Exon 14 ofIranian journal of child neurology · 2020Article
- Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy.Brain : a journal of neurology · 2019Article
- Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.International journal of molecular sciences · 2018Article
- Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).Journal of the peripheral nervous system : JPNS · 2016Article
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Brain : a journal of neurology · 2015Article
- Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Journal of applied genetics · 2013Article
- Update on Charcot-Marie-Tooth disease.Current neurology and neuroscience reports · 2011Review
- Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.Human molecular genetics · 2010Article
- SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- PMP22 expression in dermal nerve myelin from patients with CMT1A.Brain : a journal of neurology · 2009Article
- Classification and diagnosis of the inherited neuropathies.Annals of Indian Academy of Neurology · 2009Article
- Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.Neurogenetics · 2008Article
- Neuropathology of Charcot-Marie-Tooth and related disorders.Neuromolecular medicine · 2006Review
- Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.Journal of neurology · 2005Article
- Autosomal recessive forms of Charcot-Marie-Tooth disease.Current neurology and neuroscience reports · 2004Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23-33 in six non-related European families, to refine gene mapping, and to define the disease phenotype.
methodsIn an Algerian patient with autosomal recessive demyelinating CMT mapped to chromosome 5q23-q33 the same unique nerve pathology was established as previously described in families with a special form of autosomal recessive demyelinating CMT. Subsequently, the DNA of patients with this phenotype was tested from five Dutch families and one Turkish family for the 5q23-q33 locus.
resultsThese patients and the Algerian families showed a similar and highly typical combination of clinical and morphological features, suggesting a common genetic defect. A complete cosegregation for markers D5S413, D5S434, D5S636, and D5S410 was found in the families. Haplotype construction located the gene to a 7 cM region between D5S643 and D5S670. In the present Dutch families linkage disequilibrium could be shown for various risk alleles and haplotypes indicating that most of these families may have inherited the underlying genetic defect form a common distant ancestor.
conclusionsThis study refines the gene localisation of autosomal recessive demyelinating CMT, mapping to chromosome 5q23-33 and defines the phenotype characterised by a precocious and rapidly progressive scoliosis in combination with a relatively mild neuropathy and a unique pathology. Morphological alterations in Schwann cells of the myelinated and unmyelinated type suggest the involvement of a protein present in both Schwann cell types or an extracellular matrix protein rather than a myelin protein. The combination of pathological features possibly discerns autosomal recessive demyelinating CMT with a gene locus on chromosome 5q23-33 from other demyelinating forms of CMT disease.
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