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Related Concept Videos

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...
Introduction to Language of Pathophysiology l01:25

Introduction to Language of Pathophysiology l

Pathophysiology investigates how biological mechanisms—typically starting at the cellular level—disrupt normal bodily functions. It bridges anatomy and physiology to explain the progression of disease. With this foundation, it is important to understand the following key terms used to describe disease processes: Diagnosis:The process of identifying a disease using clinical evaluation, including signs (objective evidence like rashes), symptoms (subjective experiences like pain), laboratory test...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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...
Introduction to Language of Pathophysiology ll01:17

Introduction to Language of Pathophysiology ll

This lesson explores key terms that describe how diseases progress, their outcomes, and their distribution in populations.Diagnostic tests identify diseases and monitor treatment. These include blood and urine tests, biopsies, imaging (X-ray, MRI), and detection of infectious agents.Remission is a reduction or disappearance of symptoms.Exacerbation refers to the worsening of symptoms, such as increased wheezing during an asthma attack.A precipitating factor triggers an acute episode, while a...

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Related Experiment Video

Updated: Jun 1, 2026

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
15:48

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies

Published on: July 29, 2007

Tauopathies: one disease or many?

Manon Bouchard1, Oksana Suchowersky

  • 1Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|June 16, 2011
PubMed
Summary

Tauopathies, characterized by abnormal tau protein buildup, may represent varied forms of a single disease. Overlapping features suggest clinical presentation depends on lesion location and other factors.

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ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
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In Vitro Aggregation Assays Using Hyperphosphorylated Tau Protein
09:22

In Vitro Aggregation Assays Using Hyperphosphorylated Tau Protein

Published on: January 2, 2015

Area of Science:

  • Neuroscience
  • Neuropathology
  • Genetics

Background:

  • Tauopathies involve the abnormal accumulation of tau protein in the brain.
  • Previously considered distinct, certain tauopathies now show shared characteristics.

Purpose of the Study:

  • To explore the overlapping clinical, pathological, and genetic features of progressive supranuclear palsy, corticobasal degeneration, and frontotemporal lobar degeneration.
  • To investigate the hypothesis that these disorders may be different phenotypes of a single disease process.

Main Methods:

  • Comparative analysis of clinical presentations.
  • Pathological examination of brain tissue.
  • Genetic profiling of affected individuals.

Main Results:

  • Progressive supranuclear palsy, corticobasal degeneration, and tau-positive frontotemporal lobar degeneration exhibit significant overlap in clinical, pathological, and genetic findings.
  • These shared features challenge the notion of distinct disease entities.

Conclusions:

  • The findings suggest that progressive supranuclear palsy, corticobasal degeneration, and frontotemporal lobar degeneration could be manifestations of a single underlying tauopathy.
  • Clinical variability may arise from the topographical distribution of tau pathology and other unidentified factors.