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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,...
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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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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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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 to...
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Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
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Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of its...

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Axonopathy in Huntington's disease.

Jia-Yi Li1, Laura Conforti

  • 1Neural Plasticity and Repair Unit, Wallenberg Neuroscience Center, Lund University, BMC A10, 22184 Lund, Sweden. jia-yi.li@med.lu.se

Experimental Neurology
|August 28, 2012
PubMed
Summary

Early synaptic and axonal dysfunction, not just neuron loss, precede motor symptoms in Huntington's disease (HD). This review explores these early changes and potential therapeutic targets for HD.

Keywords:
Axonal transportHuntington diseaseNeurodegeneration

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Huntington's disease (HD) is a monogenic neurodegenerative disorder characterized by motor, cognitive, and psychiatric disturbances.
  • While medium-sized spiny striatal neuron loss explains motor symptoms, it doesn't fully account for preceding psychiatric and cognitive changes.

Purpose of the Study:

  • To review evidence of synaptic and axonal dysfunction preceding neuronal loss in Huntington's disease.
  • To discuss potential mechanisms driving these early cellular changes.
  • To identify novel therapeutic targets for Huntington's disease.

Main Methods:

  • Literature review of studies on Huntington's disease patients and models.
  • Analysis of evidence for synaptic and axonal dysfunction and neurite dystrophy.
  • Exploration of underlying pathomechanisms.

Main Results:

  • Synaptic and axonal dysfunction, along with neurite dystrophy, are observed before significant neuronal loss in HD.
  • These early changes contribute to the psychiatric and cognitive abnormalities seen in the prodromal phase of HD.

Conclusions:

  • Early synaptic and axonal dysfunction are critical early events in Huntington's disease pathogenesis.
  • Targeting these pre-neuronal loss mechanisms may offer novel therapeutic strategies for HD.