ArticleJournal of neurology2004
Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia.
Article in Journal of neurology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00271635 (Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A), which is not on this map. Cited by 20 papers.
What it found
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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.
Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A
Who cites it
20 citing papers in PubMed, 52 citations in OpenAlex.
- An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.Orphanet journal of rare diseases · 2014Trial
- Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial.BMC medicine · 2009Trial
- INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.Annals of clinical and translational neurology · 2026Article
- Tibial to ulnar nerve amplitude ratio as a marker of length-dependent neuropathy.Clinical neurophysiology practice · 2025Article
- Review
- The systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressedCurrent research in neurobiology · 2023Article
- A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.The Journal of clinical investigation · 2022Article
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- Muscle fat quantification using magnetic resonance imaging: case-control study of Charcot-Marie-Tooth disease patients and volunteers.Journal of cachexia, sarcopenia and muscle · 2019Observational
- Neuroregenerative Effect of Oxandrolone: A Case Report.The American journal of case reports · 2015Article
- Feasibility and diagnostic accuracy of early electrophysiological recordings for ICU-acquired weakness: an observational cohort study.Neurocritical care · 2015Observational
- Respiratory dysfunction in Charcot-Marie-Tooth disease type 1A.Journal of neurology · 2015Article
- Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study.Journal of neurology · 2014Article
- PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Orphanet journal of rare diseases · 2014Review
- Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication.Journal of clinical neurology (Seoul, Korea) · 2012Article
- Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.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
- Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family.Journal of neurology · 2010Article
- Comparison of CMT1A and CMT2: similarities and differences.Journal of neurology · 2006Article
- Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study.Journal of neurology, neurosurgery, and psychiatry · 2006Article
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
backgroundHereditary motor and sensory neuropathy type Ia (HMSN Ia) is known as a primarily demyelinating peripheral nerve disease. Evidence is accumulating that axonal involvement determines the course of the disease process.
methodsFifty-one patients were investigated. Physical disability and impairments were scored. Nerve conduction velocities (NCVs) were used as indirect measures for myelination status and compound muscle/sensory nerve action potential (CMAP/SNAP) amplitudes served as indirect measures for axonal function.
resultsMedian age was 39 years (range 6-69). Muscle weakness and sensory dysfunction was more severe in the legs than in the arms and distally more than proximally. However, more than 40% of the patients had proximal muscle weakness in the legs. Three point grip was used as representative of combined distal arm muscle groups. CMAP amplitude was the most important independent variable in a multiple linear regression model (forward selection) to explain the relation between three point grip strength and four different features, i. e., CMAP amplitude of the abductor pollicis brevis, median nerve MNCV, gender, and duration of signs and symptoms. The severity of axonal dysfunction was nerve length-dependent and was related to the myelination status. The mild physical disability due to both muscle weakness and sensory dysfunction was also related to axonal dysfunction.
conclusionsIn HMSN Ia, clinical disease severity at the impairment and disability levels is related to the severity of axonal dysfunction. Our data support the hypothesis that the myelination status is one of the factors that determine the extent of axonal dysfunction later in life. Proximal weakness of the legs is encountered in a considerable proportion of our patients.
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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.