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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,...
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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
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Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
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Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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Related Experiment Video

Updated: May 8, 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

The various Charcot-Marie-Tooth diseases.

Jean-Michel Vallat1, Stéphane Mathis, Benoît Funalot

  • 1Centre de référence neuropathies périphériques rares, service et laboratoire de Neurologie, CHU Limoges, Limoges, France. jean-michel.vallat@unilim.fr

Current Opinion in Neurology
|August 16, 2013
PubMed
Summary

Charcot-Marie-Tooth (CMT) disease, a common inherited neuropathy, has over 40 implicated genes, necessitating a classification update. Research is advancing diagnostic methods, understanding disease mechanisms, and exploring new therapies.

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Last Updated: May 8, 2026

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

Area of Science:

  • Neurology
  • Genetics
  • Pathophysiology

Background:

  • Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuromuscular disorder.
  • It typically presents with progressive distal muscle weakness, atrophy, foot deformities, sensory loss, and diminished reflexes.
  • Over 40 genes are currently implicated in CMT pathogenesis.

Purpose of the Study:

  • To review recent advancements in diagnostic approaches for CMT.
  • To explore the underlying pathophysiological mechanisms of CMT.
  • To discuss emerging therapeutic strategies for this hereditary neuropathy.

Main Methods:

  • Literature review of recent studies on CMT diagnosis, pathophysiology, and treatment.
  • Analysis of newly identified genes associated with CMT.
  • Correlation of clinical signs and pathological findings with genetic mutations.

Main Results:

  • Numerous genes, including INF2 and FBLN5, have been recently linked to CMT.
  • Specific clinical signs (e.g., proteinuria with INF2 mutations) and characteristic nerve biopsy findings (ultrastructural lesions) aid in diagnosis.
  • The discovery of new genes highlights the complexity and necessitates an updated classification system for CMT.

Conclusions:

  • CMT's genetic complexity and evolving understanding require a revised classification.
  • Nerve biopsy, while not routine, can provide crucial diagnostic clues.
  • Currently, no definitive treatments exist, but clinical trials are underway, offering hope for future therapeutic interventions.