Related Experiment Video
Updated: Jul 16, 2026
08:29
Symmetric Bihemispheric Postmortem Brain Cutting to Study Healthy and Pathological Brain Conditions in Humans
Published on: December 18, 2016
Autopsy-proven progressive supranuclear palsy in two siblings
J W Tetrud1, L I Golbe, L S Forno
1Parkinson's Institute, Sunnyvale, CA 94089, USA.
Neurology
|April 1, 1996
Summary
This study presents the first autopsy-confirmed cases of progressive supranuclear palsy (PSP) in siblings, suggesting a potential genetic link. The findings challenge the notion that PSP is exclusively nonfamilial.
Area of Science:
- Neurology
- Neuroscience
- Genetics
Background:
- Progressive supranuclear palsy (PSP) is a rare, fatal neurodegenerative disease.
- It is typically considered sporadic and nonfamilial, with limited understanding of its etiology.
- Clinical presentation includes parkinsonism, postural instability, and oculomotor dysfunction.
More Related Videos
Related Concept Videos
01:15Parkinson'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...
01:24Parkinson 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...
01:24Parkinson 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...
01:21Huntington 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,...