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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

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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...
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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...
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Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of...
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Parkinson Disease ll: Pathophysiology01:24

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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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Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
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Updated: Apr 30, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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[Huntington´s disease - overview].

Saga Briem1, Thorsteinn Bjornsson2, Vigdis Stefansdottir3

  • 1University of Iceland, Faculty of Medicine.

Laeknabladid
|April 28, 2026
PubMed
Summary
This summary is machine-generated.

Huntington's disease (HD), a neurodegenerative disorder, shows increasing prevalence in Iceland due to better diagnostics. Current treatments manage symptoms, as no cure exists for this genetic condition.

Keywords:
Huntington´s diseaseantisense oligonucleotideschoreaepidemiologytrinucleotide repeats

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Area of Science:

  • Genetics and Neurology
  • Neurodegenerative Disorders
  • Molecular Biology

Background:

  • Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
  • It is characterized by motor, psychiatric, and cognitive impairments.
  • HD stems from expanded CAG repeats in the HTT gene, causing toxic huntingtin protein accumulation and neurodegeneration.

Purpose of the Study:

  • To review the epidemiology, genetics, clinical features, diagnosis, and treatment of Huntington's disease.
  • To highlight recent Icelandic research findings on HD prevalence and prospects.
  • To provide an overview of HD management strategies.

Main Methods:

  • Literature review focusing on Huntington's disease.
  • Analysis of epidemiological data, including Icelandic studies.
  • Synthesis of genetic, clinical, and diagnostic information.
  • Review of current and future treatment approaches.

Main Results:

  • Previously reported low prevalence of HD in Iceland is now indicated to be increasing.
  • Improved diagnostic capabilities and genetic testing contribute to the observed rise in prevalence.
  • No disease-modifying treatments are currently available for HD.

Conclusions:

  • HD management focuses on symptomatic relief and multidisciplinary care to enhance patient quality of life.
  • Continued research and improved diagnostics are crucial for understanding and managing HD.
  • Icelandic research provides valuable insights into HD epidemiology and genetic factors.