ArticleJournal of neurology, neurosurgery, and psychiatry2007
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.
Article in Journal of neurology, neurosurgery, and psychiatry, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 39 citations in OpenAlex.
- Late-onset CMT neuropathy in the NGS era: a 10-year retrospective study.Journal of neurology · 2026Article
- Article
- Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.Annals of neurology · 2023Article
- A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication.PLoS genetics · 2022Article
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.Journal of neurology · 2019Article
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Brain : a journal of neurology · 2015Article
- Charcot-Marie-Tooth disease: New insights from skin biopsy.Neurology · 2015Article
- Inherited neuropathies: an update.Journal of neurology · 2013Review
- Inherited neuropathies: clinical overview and update.Muscle & nerve · 2013Review
- Diagnosis of Charcot-Marie-Tooth disease.Journal of biomedicine & biotechnology · 2009Review
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMT) type 1B, Déjèrine-Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMT (CMT2) associated with MPZ mutations has been described. We report six patients (one sporadic case and five subjects from two apparently unrelated families) with a late onset, but rapidly progressive, axonal peripheral neuropathy. In all patients, molecular analysis demonstrated a novel heterozygous missense mutation (208C>T) in MPZ exon 2, causing the Pro70Ser substitution in the extracellular domain. The diagnosis of CMT2 associated with MPZ mutations should be considered in both sporadic and familial cases of late onset, progressive polyneuropathy. The mechanism whereby compact myelin protein mutations cause axonal neuropathy remains to be elucidated.
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