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Related Concept Videos

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...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

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...
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...
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,...
Secondary Spinal Cord Injury llI: Pathophysiology01:25

Secondary Spinal Cord Injury llI: Pathophysiology

Early Ischemia and Ionic ImbalanceWithin minutes of spinal cord injury, a secondary cascade begins, progressing over hours to weeks. Vascular damage reduces blood flow, causing ischemia and mitochondrial dysfunction. ATP depletion leads to ion pump failure, membrane depolarization, sodium influx, potassium efflux, and water accumulation, resulting in cellular swelling. Increased intracellular calcium further disrupts mitochondria and accelerates cellular injury.Excitotoxicity and Neuronal...
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...

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

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Published on: July 29, 2007

Hereditary primary lateral sclerosis with cone dysfunction.

Sri Gore1, Lucinda Carr, Anthony Moore

  • 1Great Ormond Street Hospital, Great Ormond Street, London, United Kingdom. srigore@gmail.com

Ophthalmic Genetics
|November 12, 2010
PubMed
Summary
This summary is machine-generated.

Two siblings with primary lateral sclerosis (PLS) exhibited cone dysfunction, a previously unreported finding in this neurological condition. This suggests a potential genetic link between retinal abnormalities and PLS.

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Area of Science:

  • Ophthalmology
  • Neurology
  • Genetics

Background:

  • Primary lateral sclerosis (PLS) is a rare, progressive motor neuron disease.
  • Ocular manifestations in PLS are not well-documented.

Observation:

  • This study details two male siblings from a consanguineous family diagnosed with PLS.
  • Clinical evaluation revealed reduced central vision without nystagmus and normal fundus examinations.
  • Full-field electroretinography (ERG) was performed according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards.

Findings:

  • Both siblings presented with cone dysfunction characterized by reduced 30-Hz flicker amplitude and delayed photopic single flash responses.
  • Rod-driven ERG b-waves were within normal limits.
  • This cone dysfunction has not been previously reported in association with PLS.

Implications:

  • The findings suggest a potential shared genetic etiology between cone dysfunction and primary lateral sclerosis.
  • This association may guide future genetic analyses for identifying the causative mutation in PLS.
  • Further investigation of similar cases is warranted to delineate the full clinical and electroretinographic phenotype.