ArticleJournal of neurology, neurosurgery, and psychiatry2000
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
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 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 90 citations in OpenAlex.
- Article
- Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.Neuromuscular disorders : NMD · 2023Article
- 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
- Metabolic Interaction Between Schwann Cells and Axons Under Physiological and Disease Conditions.Frontiers in cellular neuroscience · 2020Article
- Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.Audiology & neuro-otology · 2018Article
- A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.Frontiers in aging neuroscience · 2016Article
- Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Brain : a journal of neurology · 2015Article
- A review of genetic counseling for Charcot Marie Tooth disease (CMT).Journal of genetic counseling · 2013Review
- CFTR-deficient pigs display peripheral nervous system defects at birth.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Novel MPZ mutations and congenital hypomyelinating neuropathy.Neuromuscular disorders : NMD · 2010Article
- Mpz gene suppression by shRNA increases Schwann cell apoptosis in vitro.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2010Article
- Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.Journal of neurology · 2010Article
- Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.Journal of neurology · 2009Article
- Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2008Article
- Article
- Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Journal of neurology, neurosurgery, and psychiatry · 2007Article
- Mutation in Mpzl3, a novel [corrected] gene encoding a predicted [corrected] adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities.The Journal of investigative dermatology · 2007Article
- Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
OBJECTIVES AND
methodsSeven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with mutations in the peripheral myelin protein zero (MPZ) gene-Thr124Met or Asp75Val.
resultsPatients with these mutations commonly showed relatively late onset sensorimotor neuropathy predominantly involving the lower limbs. Sensory impairment typically was marked, and distal muscle atrophy and weakness were also present in the legs. Adie's pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present. Relatively well preserved motor and sensory nerve conduction velocities contrasted with reduced or absent compound muscle action potentials and sensory nerve action potentials. Axonal change with marked axonal sprouting was seen in sural nerve specimens.
conclusionThe similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.