ArticleNeurology2015
Small nerve fiber involvement in CMT1A.
Article in Neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 35 citations in OpenAlex.
- Cardiovascular Autonomic Neuropathy in Charcot-Marie-Tooth Disease: A Genotype-Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers.Journal of the peripheral nervous system : JPNS · 2026Article
- Distinct small-fiber dysfunction profiles in CMT1A and RFC1 disease: a multimodal study.Journal of neurology · 2026Article
- Intraepidermal Nerve Fiber Density as an Indicator of Neuropathy Predisposition: A Systematic Review with Meta-Analysis.Diagnostics (Basel, Switzerland) · 2025Review
- Article
- Corneal nerve fiber involvement in chronic inflammatory demyelinating polyneuropathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- The puzzle of fibromyalgia between central sensitization syndrome and small fiber neuropathy: a narrative review on neurophysiological and morphological evidence.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Contribution of Skin Biopsy in Peripheral Neuropathies.Brain sciences · 2020Review
- Regulating PMP22 expression as a dosage sensitive neuropathy gene.Brain research · 2020Review
- Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A.Brain communications · 2020Article
- Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.Annals of neurology · 2019Article
- Cutaneous somatic and autonomic nerve TDP-43 deposition in amyotrophic lateral sclerosis.Journal of neurology · 2018Article
- Novel mutations inNeurology · 2017Article
- Review
- Neuromuscular issues in systemic disease.Current neurology and neuroscience reports · 2015Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the involvement of small nerve fibers in Charcot-Marie-Tooth type 1A (CMT1A).
methodsWe used indirect immunofluorescence and confocal microscopy on punch biopsies from glabrous (fingertip) and hairy (thigh and leg) skin of 20 unrelated patients with CMT1A to quantify somatic and autonomic nerve fibers. In particular, we quantified epidermal nerve fibers (ENF), Meissner corpuscles (MC), intrapapillary myelinated endings (IME), and sudomotor nerves. We correlated morphologic data with findings from quantitative sensory testing, sudomotor output, sympathetic skin response, and cardiovascular reflexes. A control population of healthy age- and sex-matched controls was included with a matching ratio of 1:2.
resultsWe found a length-dependent loss of ENFs that worsened with aging. We also observed a loss of MCs, IMEs, and sudomotor nerves. The loss of ENF at distal leg correlated with the increase in heat-pain thresholds (p < 0.05) and with tactile thresholds (p < 0.05). Sudomotor nerve fiber loss correlated with ENF density (p < 0.05) and sweating output (p < 0.001).
conclusionsWe demonstrated through morphologic, physical, and psychophysical testing that small somatic and autonomic fibers are abnormal and cause symptoms in patients with CMT1A. Awareness of such symptoms by the clinician could lead to better treatment.
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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.