ArticleJournal of neurology, neurosurgery, and psychiatry2000
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.
Article in Journal of neurology, neurosurgery, and psychiatry, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 79 citations in OpenAlex.
- A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?International journal of molecular sciences · 2024Review
- Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.International journal of molecular sciences · 2024Article
- Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot-Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection.Frontiers in neurology · 2024Article
- Clinical Worsening of Charcot-Marie-Tooth Disease Due to Overlapping Acute Inflammatory Polyneuropathy.Cureus · 2023Article
- CIDP, CMT1B, or CMT1B plus CIDP?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.Clinical genetics · 2021Article
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Brain : a journal of neurology · 2015Article
- Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.Journal of neurology, neurosurgery, and psychiatry · 2006Article
- Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- [The role of the immune system in hereditary demyelinating neuropathies].Der Nervenarzt · 2005Review
- Myelin P0: new knowledge and new roles.Neurochemical research · 2002Review
- Inflammation and neuropathic attacks in hereditary brachial plexus neuropathy.Journal of neurology, neurosurgery, and psychiatry · 2002Article
- Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.Journal of anatomy · 2002Review
- Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).Journal of neurology, neurosurgery, and psychiatry · 2002Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo report a novel hereditary motor and sensory neuropathy (HMSN) phenotype, with partial steroid responsiveness, caused by a novel dominant mutation in the myelin protein zero (MPZ) gene. Most MPZ mutations lead to the HMSN type I phenotype, with recent reports of Déjérine-Sottas, congenital hypomyelination, and HMSN II also ascribed to MPZ mutations. Differing phenotypes may reflect the effect of particular mutations on MPZ structure and adhesivity.
methodsClinical, neurophysiological, neuropathological, and molecular genetic analysis of a family presenting with an unusual hereditary neuropathy.
resultsProgressive disabling weakness, with positive sensory phenomena and areflexia, occurred in the proband with raised CSF protein and initial steroid responsiveness. Nerve biopsy in a less severely affected sibling disclosed a demyelinating process with disruption of compacted myelin. The younger generation were so far less severely affected, becoming symptomatic only after 30 years. All affected family members were heterozygous for a novel MPZ mutation (Ile99Thr), in a conserved residue.
conclusionsThis broadens the range of familial neuropathy associated with MPZ mutations to include steroid responsive neuropathy, initially diagnosed as chronic inflammatory demyelinating polyneuropathy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.