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Related Concept Videos

Diabetic Neuropathy01:22

Diabetic Neuropathy

DefinitionDiabetic neuropathy is nerve damage caused by long-standing diabetes mellitus. It results directly from prolonged high blood sugar levels.PathophysiologyThe pathophysiology of diabetic neuropathy involves both metabolic and vascular disturbances triggered by chronic hyperglycemia.Metabolic injury: Elevated glucose levels activate the polyol pathway within nerve cells, leading to the accumulation of sorbitol and fructose. This increases oxidative stress, disrupts normal nerve...
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
Peripheral Nervous System: Ganglia and Nerves01:24

Peripheral Nervous System: Ganglia and Nerves

The Peripheral Nervous System (PNS) is a crucial component of the body's neural network, extending beyond the central nervous system (CNS) to bridge the gap between the CNS and the external environment. It encompasses nerves, ganglia, and sensory receptors.
Nerves
The nerve is a bundle of axons that serves as the communication highway in the PNS. Each nerve is ensheathed in a protective layer of connective tissue called the epineurium. This outermost layer safeguards the nerve and supports the...
Local Anesthetics: Differential Sensitivity of Nerve Fibers01:24

Local Anesthetics: Differential Sensitivity of Nerve Fibers

Local anesthetics (LAs) block the sodium channels of nerve trunks, sensory nerve endings, and neuromuscular junctions. Although LAs can block all kinds of nerves, the sensitivity of nerve fibers differs according to nerve types and structures. LAs are known to block myelinated fibers faster than unmyelinated ones. Also, they block pain or sensory neurons at low concentrations without affecting the motor neurons involved in muscle contractions. This helps relieve labor pain without affecting the...
Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
Pedigree Analysis01:35

Pedigree Analysis

Overview

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Updated: Jun 24, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
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Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor

Published on: August 25, 2023

[Hereditary peripheral neuropathies].

Jean-Michel Vallat1, Mériem Tazir, Judith Calvo

  • 1Centre de référence neuropathies périphériques rares, Service de neurologie, Hôpital universitaire Dupuytren, CHU de Limoges, Limoges, France. jean-michel.vallat@unilim.fr

Presse Medicale (Paris, France : 1983)
|March 31, 2009
PubMed
Summary
This summary is machine-generated.

Genetic neuropathies, like Charcot-Marie-Tooth disease, involve over 30 genes. Identifying specific gene mutations, such as PMP22 and MFN2, is crucial for diagnosis and understanding disease variability.

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Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers
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Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers

Published on: September 29, 2017

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Context:

  • Over 30 genes are implicated in hereditary neuropathies.
  • Charcot-Marie-Tooth (CMT) disease is the most prevalent, affecting 4.7-36 per 100,000 individuals.
  • Specific genetic factors like PMP22 duplication (CMT1) and MFN2 mutations (CMT2) are key identifiers.

Purpose:

  • To highlight the genetic basis of neuropathies, focusing on Charcot-Marie-Tooth disease.
  • To underscore the importance of genetic analysis, including ethnic considerations, for accurate diagnosis.
  • To differentiate between various forms of CMT, including early-onset and recessive types.

Summary:

  • Genetic neuropathies are diverse, with CMT being the most common hereditary form.
  • Demyelinating CMT (CMT1) often involves PMP22 duplication, while axonal CMT (CMT2) can be linked to MFN2 mutations.
  • Recessive CMT in North African patients suggests LMNA gene mutations; early-onset forms include congenital hypomyelination neuropathy and SMARD1.

Impact:

  • Understanding genetic heterogeneity aids in precise diagnosis and classification of neuropathies.
  • Clinical and electrophysiological examination of family members can guide mutation discovery.
  • Recognizing distinct early-onset forms like SMARD1 and EOHMSN improves management strategies.
  • Preventing complications in hereditary sensory and autonomic neuropathies is vital due to severe sensory deficits.