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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,...
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...
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...
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...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

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Neural Regulation01:37

Neural Regulation

Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.

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Related Experiment Video

Updated: Jun 2, 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

Huntington's disease look-alikes.

Susanne A Schneider1, Kailash P Bhatia

  • 1Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK. s.schneider@ion.ucl.ac.uk

Handbook of Clinical Neurology
|April 19, 2011
PubMed
Summary
This summary is machine-generated.

Huntington's disease (HD) has known genetic causes in most cases. However, several rare HD-like (HDL) syndromes with similar symptoms are caused by different genetic mutations, expanding our understanding of these neurological disorders.

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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

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Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

Related Experiment Videos

Last Updated: Jun 2, 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

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

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice
08:27

Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

Published on: March 11, 2020

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Huntington's disease (HD) is primarily caused by a specific gene mutation (IT15 gene, triplet repeat expansion).
  • A significant number of patients present with HD-like symptoms but lack the typical HD genetic mutation, suggesting other underlying causes.
  • These HD-like (HDL) syndromes represent distinct genetic disorders that mimic the clinical presentation of Huntington's disease.

Purpose of the Study:

  • To review currently identified genetic disorders that cause HD-like symptoms (HDL syndromes).
  • To discuss clinical indicators that can aid in the investigation and diagnosis of HDL syndromes.
  • To provide an overview of four specific HDL syndromes and briefly mention other related choreatic genetic disorders.

Main Methods:

  • Literature review of identified genetic disorders presenting as HD phenocopies.
  • Analysis of genetic mutations associated with known HDL syndromes (HDL1, HDL2, HDL3, HDL4).
  • Clinical case review and discussion of diagnostic clues for differentiating HDL syndromes from HD.

Main Results:

  • Four genes (prion protein gene, junctophilin 3 gene, TATA box-binding protein gene, and an unknown gene for HDL3) have been linked to HDL syndromes.
  • These identified genetic causes account for a small fraction of all HDL cases, indicating more genetic factors are yet to be discovered.
  • Other genetic choreatic syndromes (e.g., dentatorubral-pallidoluysian atrophy, neuroferritinopathy) share some clinical features with HD and HDL syndromes.

Conclusions:

  • The genetic landscape of HD-like syndromes is complex and continues to expand beyond the classic Huntington's disease mutation.
  • Recognizing clinical clues is crucial for investigating and diagnosing these distinct genetic disorders.
  • Further research is needed to identify the genetic basis for the majority of unexplained HDL cases.