Related Experiment Video

Updated: Aug 9, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Juvenile onset Huntington's disease--clinical and research perspectives

M A Nance1, R H Myers

  • 1Department of Neurosciences, Park Nicollet Clinic, St. Louis Park, Minnesota, USA.

Mental Retardation and Developmental Disabilities Research Reviews
|September 13, 2001
PubMed

Insights

Huntington's disease (HD) is an inherited neurodegenerative disorder caused by expanded CAG repeats in the huntingtin gene. Juvenile HD, a severe form, presents unique clinical and neuropathological features, including striatal degeneration and inclusion bodies.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Huntington's disease (HD) is an inherited neurodegenerative disorder.
  • It is caused by an expansion of CAG trinucleotide repeats in the huntingtin gene (HTT).
  • Normal repeat numbers range from 15-30, with 40+ associated with HD.

Purpose of the Study:

  • To describe the characteristics of juvenile Huntington's disease (jHD).
  • To compare jHD neuropathology with adult-onset HD.
  • To explore the role of huntingtin protein aggregates in HD pathogenesis.

Main Methods:

  • Review of clinical and neuropathological data from jHD cases.
  • Comparison of neuropathological findings in jHD with adult HD.
  • Analysis of protein inclusion bodies in affected neurons.

Main Results:

  • Juvenile HD accounts for ~7% of cases, with onset before 21 years.
  • jHD is associated with paternal transmission, large repeat expansions (>60), rigidity, and seizures.
  • Neuropathology in jHD primarily affects the striatum, similar to adult HD, with nuclear and cytoplasmic inclusion bodies containing huntingtin and ubiquitin.

Conclusions:

  • Juvenile HD exhibits distinct clinical and genetic features but shares core neuropathological similarities with adult HD.
  • Inclusion bodies may play a role in sequestering toxic protein fragments, potentially prolonging neuronal survival.
  • Further research into inclusion body function could offer therapeutic insights for Huntington's disease.

More Related Videos

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease09:06

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System10:52

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

Published on: December 10, 2021

Related Concept Videos

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 to...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

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...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

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 which...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

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...
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,...