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Related Concept Videos

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...
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's Disease: Overview01:26

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
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'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...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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Related Experiment Video

Updated: Jul 10, 2026

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
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Published on: June 3, 2020

[Phenotypes in ALS--clinical features and pathology].

Shoichi Sasaki1

  • 1Department of Neurology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan.

Brain and Nerve = Shinkei Kenkyu No Shinpo
|November 1, 2007
PubMed
Summary

Diagnosing atypical amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND) presents challenges due to significant phenotypic variation. Recognizing these diverse subtypes is crucial for personalized patient care and effective clinical research.

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Area of Science:

  • Neurology
  • Clinical Medicine
  • Pathology

Context:

  • Atypical forms of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) constitute approximately 20% of cases.
  • Differentiating these atypical presentations from other neurological conditions like multifocal motor neuropathy or cervical spondylosis can be difficult.
  • Sporadic ALS/MND exhibits striking phenotypic variability, encompassing syndromes such as flail arm, pseudopolyneuritic, and hemiplegic forms, among others.

Purpose:

  • To highlight the diagnostic challenges posed by the phenotypic heterogeneity of atypical ALS/MND.
  • To emphasize the necessity of recognizing diverse clinical presentations for tailored patient management.
  • To advocate for subgroup categorization within ALS/MND to improve the efficacy of clinical research and therapeutic trials.

Summary:

  • Amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) presents with significant variations, complicating diagnosis and treatment.
  • Phenotypic heterogeneity in ALS/MND can obscure drug efficacy in clinical trials, potentially harming patients.
  • Establishing clinicopathologic syndromes within the ALS/MND spectrum is vital for advancing research and understanding disease mechanisms.

Impact:

  • Improved diagnostic accuracy for atypical ALS/MND cases.
  • Personalized treatment strategies and prognostic guidance for individual patients.
  • Enhanced design and interpretation of clinical trials for ALS/MND therapies by accounting for patient heterogeneity.