Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation
Abstract
A patient with hereditary neuropathy presented with asymmetric distal weakness. On nerve biopsy, there was demyelination and onion-bulb formation, and molecular analysis revealed that the patient was heterozygous for an MPZ mutation. The patient improved with corticosteroid treatment.
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© 2002.
Publication History
Received: September 12, 2001
Accepted: May 10, 2002
Published online: September 10, 2002
Published in print: September 10, 2002
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- 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, 15, (2024).https://doi.org/10.3389/fneur.2024.1358881
- Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology, Journal of the Peripheral Nervous System, 29, 2, (135-160), (2024).https://doi.org/10.1111/jns.12625
- Clinical Worsening of Charcot-Marie-Tooth Disease Due to Overlapping Acute Inflammatory Polyneuropathy, Cureus, (2023).https://doi.org/10.7759/cureus.47750
- Genetic neuropathies presenting with CIDP-like features in childhood, Neuromuscular Disorders, 31, 2, (113-122), (2021).https://doi.org/10.1016/j.nmd.2020.11.013
- Remyelination in PNS and CNS: current and upcoming cellular and molecular strategies to treat disabling neuropathies, Molecular Biology Reports, 48, 12, (8097-8110), (2021).https://doi.org/10.1007/s11033-021-06755-6
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- Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP, Brain Communications, 1, 1, (2019).https://doi.org/10.1093/braincomms/fcz011
- Infantile-Onset Myelin Protein Zero–Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia, Seminars in Pediatric Neurology, 26, (52-55), (2018).https://doi.org/10.1016/j.spen.2017.03.005
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