Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

110.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
110.2K
Local Anesthetics: Differential Sensitivity of Nerve Fibers01:24

Local Anesthetics: Differential Sensitivity of Nerve Fibers

1.6K
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...
1.6K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

2.3K
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
2.3K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

69
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
69
Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

521
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...
521
Overview of Somatic Sensory Pathways01:29

Overview of Somatic Sensory Pathways

9.2K
Somatic sensory or somatosensory pathways refer to the neural pathways that carry information related to touch, pressure, pain, temperature, and proprioception from the skin, muscles, tendons, and joints to the brain. These pathways involve several stages of processing and integration of sensory information.
The somatosensory system is divided into three main pathways: the dorsal (or posterior) column-medial lemniscus, spinothalamic (or anterolateral), and spinocerebellar pathways.
The dorsal...
9.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Muscle & nerve·2026
Same author

282nd ENMC international workshop - standards of diagnosis and care for the sarcoglycanopathies. 8-10 November 2024, Amsterdam, Netherlands.

Neuromuscular disorders : NMD·2025
Same author

Rapidly progressive myopathy: unveiling light chain amyloidosis as an initial manifestation of multiple myeloma: a case report and literature review.

Neuromuscular disorders : NMD·2024
Same author

8-Iso-prostaglandin F2α as a potential biomarker in patients with unipolar and bipolar depression.

European review for medical and pharmacological sciences·2023
Same author

Strategy for genetic analysis in hereditary neuropathy.

Revue neurologique·2022
Same author

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.

European journal of neurology·2020
Same journal

Geographic disparities in MRI features of ischemic stroke and small vessel disease: A comparative study between French Guiana and mainland France. Findings from the BECATOUR multicenter registry.

Revue neurologique·2026
Same journal

Continuous subcutaneous perfusion of apomorphine in Parkinson's disease: Towards monotherapy?

Revue neurologique·2026
Same journal

Multimodal assessment of minimally conscious state and cognitive motor dissociation in neurocritical care: A critical review.

Revue neurologique·2026
Same journal

Development of a new episodic memory assessment tool (NEM): Preliminary data and clinical perspectives.

Revue neurologique·2026
Same journal

Novel variants and rare clinical presentations in MFN2-related Charcot-Marie-Tooth disease: Insights from 10 families.

Revue neurologique·2026
Same journal

Current management and treatment of patients with myasthenia gravis in France: A survey of the neurologist's perspective.

Revue neurologique·2026
See all related articles

Related Experiment Video

Updated: Mar 11, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
06:35

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

20.8K

Hereditary neuropathies: An update.

T Stojkovic1

  • 1Centre de référence des maladies neuromusculaires Paris Est, AP-HP, groupe hospitalier Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Paris, France.

Revue Neurologique
|November 22, 2016
PubMed
Summary
This summary is machine-generated.

Charcot-Marie-Tooth (CMT) disease, a common inherited neuromuscular disorder, shows significant genetic and clinical variability. Accurate genetic diagnosis is crucial for patient counseling and exploring emerging treatments like RNA therapy.

Keywords:
Charcot-Marie-Tooth diseaseDistal hereditary motor neuropathyHereditary sensory and autonomic neuropathyTransthyretin amyloid neuropathy

More Related Videos

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies
08:56

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies

Published on: October 7, 2021

3.5K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.8K

Related Experiment Videos

Last Updated: Mar 11, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
06:35

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

20.8K
Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies
08:56

Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies

Published on: October 7, 2021

3.5K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.8K

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Hereditary neuropathies are the most prevalent inherited neuromuscular disorders.
  • Charcot-Marie-Tooth (CMT) disease is the most common type, affecting 1 in 2500 to 1 in 1200 individuals.
  • Over 80 genes causing CMT have been identified through advanced sequencing.

Purpose of the Study:

  • To highlight the genetic and clinical heterogeneity of Charcot-Marie-Tooth disease.
  • To underscore the importance of accurate genetic diagnosis for patient management.
  • To provide an overview of the diverse biological processes implicated in CMT pathogenesis.

Main Methods:

  • Review of genetic sequencing data identifying over 80 causative genes.
  • Analysis of clinical and electrophysiological phenotypes, noting significant variability.
  • Examination of the biological pathways affected by CMT-associated genes.

Main Results:

  • Identified over 80 genes linked to CMT, involved in diverse cellular functions.
  • Observed considerable variability in clinical presentation and electrophysiological findings.
  • Noted atypical CMT phenotypes that can mimic other neurological conditions like spastic paraplegia or ALS.
  • Highlighted the involvement of genes in myelin, axonal transport, and mitochondrial function.

Conclusions:

  • Accurate genetic diagnosis in CMT is essential for genetic counseling and treatment strategies.
  • Emerging therapies, such as small interfering RNA (siRNA) therapy, show promise for treating hereditary neuropathies.
  • Understanding the broad spectrum of CMT genetics and phenotypes is critical for advancing patient care.