Related Experiment Video

Updated: Feb 22, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

3.1K

Epidemiology of Huntington disease

Chris Kay1, Michael R Hayden1, Blair R Leavitt1

  • 1Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.

Handbook of Clinical Neurology
|September 27, 2017
PubMed

Insights

Huntington disease (HD) is a genetic neurological disorder caused by a CAG trinucleotide repeat expansion. Its prevalence varies by ancestry, with higher rates in European populations, influenced by genetic factors and mutation rates.

Area of Science:

  • Neurology
  • Genetics
  • Epidemiology

Background:

  • Huntington disease (HD) is an autosomal-dominant neurological disorder.
  • It is caused by an expanded CAG trinucleotide repeat mutation.
  • HD presents with motor signs and specific brain pathology.

Purpose of the Study:

  • To understand the epidemiology of Huntington disease.
  • To examine factors influencing disease onset and prevalence.
  • To explore geographic and ethnic variations in HD occurrence.

Main Methods:

  • Ascertainment of individuals with expanded CAG mutations.
  • Examination of clinical signs for disease onset assessment.
  • Molecular studies to investigate genetic causes of population-specific differences.

Main Results:

  • A CAG repeat of 36 or more leads to HD, with longer repeats increasing penetrance and decreasing age of onset.
  • More individuals carry the expanded CAG repeat than actively manifest HD due to adult onset.
  • Incomplete penetrance at lower repeat ranges suggests the actual frequency of the expanded CAG repeat may be underestimated.
  • Significant geographic and ethnic variations in HD prevalence exist, notably higher rates in populations of European descent.
  • Molecular studies indicate genetic differences, potentially in the HD new mutation rate, contribute to these population-specific variations.

Conclusions:

  • The epidemiology of HD is influenced by CAG repeat expansion, penetrance, and age of onset.
  • Genetic factors and demographics significantly impact HD prevalence across populations.
  • Understanding these variations is crucial for accurate HD assessment and research.

Keywords:
Huntington diseasede novo mutationepidemiologygenetic testinggeneticshaplotypesneurodegenerationpenetranceprevalencetrinucleotide repeat

More Related Videos

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

10.1K
Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy11:22

Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy

Published on: June 27, 2018

8.5K

Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
115.9K
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

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.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
1.8K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

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...
2.2K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.9K
Prevalence and Incidence01:08

Prevalence and Incidence

In statistical epidemiology and health sciences, two essential metrics—prevalence and incidence—are fundamental for understanding disease dynamics within a population. These measures enable public health officials, epidemiologists, and researchers to assess the burden of diseases, allocate resources effectively, and design impactful public health policies and interventions.
Prevalence indicates the proportion of individuals in a population who have a specific disease or health...
2.0K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.7K