Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background And Purpose: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most prevalent hereditary neuropathy worldwide and classically has slow nerve conduction velocity (NCV), in most cases below 38 m/s. Two unrelated patients with motor NCVs in the upper limbs above 38 m/s are reported.
Method: Case report.
Results: Two genetically confirmed CMT1A patients are presented, from two unrelated families (one of British origin and the other of Brazilian origin). Both individuals had upper limb motor NCVs above 38 m/s, with values ranging from 41.9 to 45 m/s in the median nerve and from 42 to 42.3 m/s in the ulnar nerve. They presented with a very mild phenotype, with CMT Neuropathy Score version 2 (CMTNSv2) of 6 and 5, respectively. In contrast, affected family members within both kinships exhibited a classical phenotype with more severe disease manifestation (CMTNSv2 ranging from 12 to 20) and motor NCVs below 30 m/s.
Conclusion: These cases, although very rare, highlight the importance of testing PMP22 duplication in patients with intermediate conduction velocities.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11235722 | PMC |
| http://dx.doi.org/10.1111/ene.16199 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
High-Fat Diet Disrupt Nerve Function by Targeting Schwann Cells.
J Peripher Nerv Syst
June 2025
Department of Neuroscience and Experimental Therapeutics, Albany Medical College, Albany, New York, USA.
Background And Aims: Diabetic peripheral neuropathy (DPN) is a debilitating complication of diabetes, with Schwann cell dysfunction increasingly implicated in disease progression. This study aimed to investigate how high-fat diet (HFD)-induced metabolic syndrome (MetS) affects Schwann cells and peripheral nerve function in male and female mice.
Methods: Male and female C57BL/6J mice were fed a standard diet (SD) or HFD for 33 weeks.
Changes Over 10 Years in Peripheral Nerve Function in People With Well-Controlled Type 2 Diabetes and Those With Normal Glucose Tolerance.
Neurology
June 2025
Institute for Clinical Diabetology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University Düsseldorf, Germany.
Background And Objectives: There is a lack of knowledge on the changes in peripheral nerve function in people with well-controlled, recently diagnosed type 2 diabetes compared with those with normal glucose tolerance (NGT). In this study, we aimed to investigate the natural course of the function of lower extremity small and large nerve fibers in people with NGT and its decline in those with well-controlled type 2 diabetes.
Methods: This prospective observational study assessed changes in nerve function in participants of the German Diabetes Study with recently diagnosed (≤1 year) type 2 diabetes and age-matched and sex-matched individuals with NGT after 5 years and in a larger group of participants with type 2 diabetes after 5 and 10 years.
Effects of atidarsagene autotemcel gene therapy on peripheral nerves in late-infantile metachromatic leukodystrophy.
Brain
April 2025
IRCCS San Raffaele Scientific Institute, Milan, Italy, Unit of Neurology and Neurophysiology, Milan, 20132, Italy.
This study evaluates the efficacy of arsa-cel gene therapy (GT) in mitigating the severity and progression of peripheral neuropathy as assessed by nerve conduction velocity (NCV) in individuals affected by late-infantile metachromatic leukodystrophy (LI-MLD). This is a post-hoc analysis conducted on pre-symptomatic patients affected by LI-MLD treated with ex vivo autologous hematopoietic stem cell GT (atidarsagene autotemcel, "arsa-cel") in the context of prospective open-label, single-arm, interventional trials and expanded access programs. All patients were followed longitudinally with nerve conduction studies (NCSs) of peripheral motor (ulnar - UN, deep peroneal - DPN) and sensory (median - MN, sural - SN) nerves.
View Article and Find Full Text PDFAssessing Nerve Conduction Velocity as a Diagnostic and Prognostic Indicator in Leprosy Patients: A Cross-Sectional Study.
Cureus
April 2024
Kayachikitsa, Mahatma Gandhi Ayurved College Hospital and Research Centre, Datta Meghe Institute of Higher Education and Research (DMIHER), Wardha, IND.
Article Synopsis
- Hansen's disease, caused by Mycobacterium leprae, leads to peripheral neuropathy, affecting nerve function and sensation in patients.
- A study conducted on 30 leprosy patients in rural India measured the nerve conduction velocities (NCV) for sensory and motor nerves, revealing significant impairments in conduction velocity and increased latency.
- The study suggests that nerve conduction studies are an effective, non-invasive method for early diagnosis and treatment of leprosy, recommending further research with larger, multicentric samples.