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Related Concept Videos

Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

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Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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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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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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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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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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Related Experiment Video

Updated: Apr 22, 2026

Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models
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Hallervorden-Spatz disease.

Maseumeh Dashti1, Ahmad Chitsaz1

  • 1Department of Neurology, Shahid Sadooghi Hospital, Isfahan, Iran.

Advanced Biomedical Research
|October 16, 2014
PubMed
Summary

Hallervorden-Spatz disease (HSD) is a rare neurodegenerative disorder causing progressive movement and cognitive decline. This study details four distinct HSD cases, highlighting the condition's varied clinical presentations.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Hallervorden-Spatz disease (HSD), a rare neurodegenerative disorder, is characterized by progressive extrapyramidal dysfunction and dementia.
  • First described in 1922, HSD is recognized as a familial brain degeneration linked to iron deposition.

Observation:

  • This study presents four cases of Hallervorden-Spatz disease.
  • The cases exhibit diverse clinical manifestations, underscoring the variability of HSD.

Findings:

  • Detailed analysis of four HSD cases with differing clinical pictures.
  • The findings contribute to understanding the spectrum of Hallervorden-Spatz disease presentations.

Implications:

  • Improved diagnostic approaches for Hallervorden-Spatz disease.
Keywords:
Extra pyramdal signHallervorden-Spatz Diseasedementiadystonia

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  • Enhanced understanding of neurodegenerative processes involving iron accumulation.
  • Potential for targeted therapeutic strategies in rare neurological disorders.