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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 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...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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 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's Disease: Treatment01:24

Parkinson's Disease: Treatment

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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Related Experiment Video

Updated: Jul 6, 2026

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
07:46

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Published on: June 18, 2018

Update on Genetic Chorea.

Miriam Ostrozovicova1,2,3,4, Matej Skorvanek5,6,7

  • 1Department of Neurology, University of Pavol Jozef Safarik, Trieda SNP 1, Kosice, 04011, Slovakia.

Current Neurology and Neuroscience Reports
|July 4, 2026
PubMed
Summary

Recent advances in genetic testing have identified new causes of chorea, a symptom of various genetic disorders. Understanding somatic instability in Huntington

Keywords:
Benign hereditary choreaChoreaGeneticsHuntington’s diseaseHuntington’s disease look-alikesSomatic instability

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Last Updated: Jul 6, 2026

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
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Published on: June 18, 2018

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Neurogenetics
  • Molecular Neurology
  • Genomic Medicine

Background:

  • Chorea is a complex symptom arising from diverse genetic conditions.
  • Recent years have seen significant progress in genomic testing and understanding molecular mechanisms.
  • Large-scale collaborations have enhanced our knowledge of chorea-related genetic disorders.

Purpose of the Study:

  • To review novel genetic conditions and phenotypes associated with chorea.
  • To update on modification factors and pathophysiological underpinnings of chorea disorders.
  • To highlight recent advancements in the genetic diagnosis and treatment of chorea.

Main Methods:

  • Review of recent literature on genetic chorea disorders.
  • Analysis of novel genetic findings and phenotypic characterizations.
  • Examination of molecular mechanisms, including somatic instability in Huntington's disease.

Main Results:

  • Identification of new genetic causes for chorea, including mutations in FTH1, NAA60, ACBD6, and TOR1AIP2.
  • Establishment of novel phenotypes linked to chorea, such as Adult-onset Neurodegeneration in Nucleotide Excision Repair Disorder (NERD-ND).
  • Significant insights into the role of somatic instability in Huntington's disease (HD) pathogenesis, suggesting asynchronous DNA processes.

Conclusions:

  • Improved genetic recognition enhances diagnostic accuracy, prognostication, and personalized treatment for chorea.
  • Understanding somatic instability in HD offers potential therapeutic strategies for HD and other repeat expansion disorders.
  • Continued research into genetic factors is crucial for advancing the management of chorea disorders.