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

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

You might also read

Related Articles

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

Sort by
Same author

FUS-associated ALS in Taiwan: genetic spectrum, clinical features, and a founder haplotype of p.H517D.

Journal of neurology·2026
Same author

Association of imaging-defined brain age with disease severity and adverse outcomes in CADASIL.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same author

Clinical and electrophysiological features for differentiating MMN from hand-onset ALS.

Journal of the Chinese Medical Association : JCMA·2026
Same author

Taiwan Clinical Practice Guidelines for Myasthenia Gravis.

Acta neurologica Taiwanica·2026
Same author

An in trans NOTCH3 loss-of-function variant modifies disease severity in CADASIL: A family-based study.

Journal of the Chinese Medical Association : JCMA·2026
Same author

Multidisciplinary Approaches for Diagnosing Underrecognized Transthyretin Amyloidosis in Real-World Practice.

Acta Cardiologica Sinica·2026
Same journal

Uncommon Stroke Mimics: Racemose Neurocysticercosis.

Acta neurologica Taiwanica·2026
Same journal

Deficiency of Adenosine Deaminase 2: A Rare Cause of Stroke-related Dystonia in Young Adults - A Case Report.

Acta neurologica Taiwanica·2026
Same journal

Unilateral Cortical Ribboning and Corticomedullary Lesions in a Rare Case of Coexisting Anti-N-methyl-D-aspartate Receptor Encephalitis and Neuronal Intranuclear Inclusion Disease.

Acta neurologica Taiwanica·2026
Same journal

Landau-Kleffner Syndrome with Adult-onset Epilepsy: A Case Report.

Acta neurologica Taiwanica·2026
Same journal

Prolonged Conscious Disturbance in a Patient with Neuronal Intranuclear Inclusion Disease Masquerading as Hashimoto Encephalopathy: A Case Report.

Acta neurologica Taiwanica·2026
Same journal

Pituitary Apoplexy with the Initial Presentations Similar to Trigeminal Autonomic Cephalalgia: A Case Report.

Acta neurologica Taiwanica·2026
See all related articles

Related Experiment Video

Updated: Jun 28, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

[Charcot-Marie-Tooth disease].

Yi-Chung Lee1, Ming-Hon Chang, Kon-Ping Lin

  • 1Section of Neurology, Taichung Veterans General Hospital, Taichung, Taiwan. yclee@vghtc.gov.tw

Acta Neurologica Taiwanica
|November 4, 2008
PubMed
Summary
This summary is machine-generated.

Charcot-Marie-Tooth disease (CMT), a common inherited neuropathy, causes progressive muscle weakness. Research explores ascorbic acid and neurotrophin-3 as potential treatments for CMT type 1A.

More Related Videos

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

An Improved Method to Isolate Mitochondrial Contact Sites
07:55

An Improved Method to Isolate Mitochondrial Contact Sites

Published on: June 16, 2023

Related Experiment Videos

Last Updated: Jun 28, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

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

An Improved Method to Isolate Mitochondrial Contact Sites
07:55

An Improved Method to Isolate Mitochondrial Contact Sites

Published on: June 16, 2023

Area of Science:

  • Neurology
  • Genetics
  • Peripheral Neuropathy

Context:

  • Charcot-Marie-Tooth disease (CMT), or hereditary motor and sensory neuropathy (HMSN), is the most prevalent inherited peripheral neuropathy.
  • It presents as progressive distal muscle weakness, atrophy, foot deformities, sensory loss, and reduced reflexes.
  • CMT is genetically heterogeneous and categorized by various factors including molecular pathology.

Purpose:

  • To review the current understanding of CMT, focusing on CMT type 1A (CMT1A).
  • To highlight the genetic basis of CMT1A, typically a duplication of the PMP22 gene region on chromosome 17p11.2.
  • To discuss potential therapeutic agents, specifically ascorbic acid and neurotrophin-3 (NT-3).

Summary:

  • CMT1A is an autosomal dominant demyelinating neuropathy with childhood onset, often caused by PMP22 gene duplication.
  • Current treatments lack a definitive cure, emphasizing the need for disease-modifying therapies.
  • Ascorbic acid and NT-3 show promise as potential therapeutic agents for CMT1A.

Impact:

  • Early diagnosis of CMT enables lifestyle modifications to mitigate nerve damage and delay disability.
  • Molecular diagnosis is crucial for genetic counseling and advancing CMT research.
  • Identifying effective treatments like ascorbic acid or NT-3 could significantly improve patient outcomes for CMT1A.