ArticleJournal of neurology, neurosurgery, and psychiatry2000
Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies.
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 23 papers.
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Who cites it
23 citing papers in PubMed, 74 citations in OpenAlex.
- Morphometric analysis of peripheral nerves in people with spinal cord injury.Scientific reports · 2025Article
- Multiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy.Nagoya journal of medical science · 2023Review
- Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Value of Antibody Determinations in Chronic Dysimmune Neuropathies.Brain sciences · 2022Review
- Early structural alterations of intrinsic cardiac ganglionated plexus in spontaneously hypertensive rats.Histology and histopathology · 2022Article
- Candidate imaging biomarkers for PMP22-related inherited neuropathies.Annals of clinical and translational neurology · 2022Article
- Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.Human molecular genetics · 2020Article
- Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.Annals of clinical and translational neurology · 2020Article
- Article
- Maf links Neuregulin1 signaling to cholesterol synthesis in myelinating Schwann cells.Genes & development · 2018Article
- Schwann Cell O-GlcNAc Glycosylation Is Required for Myelin Maintenance and Axon Integrity.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Strength of ERK1/2 MAPK Activation Determines Its Effect on Myelin and Axonal Integrity in the Adult CNS.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Akt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.Human molecular genetics · 2013Article
- Article
- The PMP22 gene and its related diseases.Molecular neurobiology · 2013Review
- Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies.Case reports in neurology · 2012Article
- Therapeutic implications of protein homeostasis in demyelinating peripheral neuropathies.Expert review of neurotherapeutics · 2012Article
- Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy.EMBO molecular medicine · 2012Article
- Distinct roles for laminin globular domains in laminin alpha1 chain mediated rescue of murine laminin alpha2 chain deficiency.PloS one · 2010Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo describe the neuropathological features of clinical syndromes associated with tomacula or focal myelin swellings in sural nerve biospies and to discuss possible common aetiopathological pathways leading to their formation in this group of neuropathies.
methodsFifty two patients with sural nerve biopsies reported to show tomacula or focal myelin swellings were reviewed, light and electron microscopy were performed, and tomacula were analysed on teased fibre studies. Molecular genetic studies were performed on those patients who were available for genetic testing.
resultsThirty seven patients were diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP), four with hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1), four with HMSN with myelin outfolding (CMT4B), three with IgM paraproteinemic neuropathy, three with chronic inflammatory demyelinating polyneuropathy (CIDP), and one with HMSN III (CMT3).
conclusionsMost of these syndromes were shown to be related to genetic or immunological defects of myelin components such as peripheral myelin protein 22 (PMP22), myelin protein zero (P0), or myelin associated glycoprotein (MAG). These proteins share the HNK-1 epitope which has been implicated in cell adhesion processes. Impaired myelin maintenance may therefore contribute to the formation of tomacula and subsequent demyelination.
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