Related Experiment Video
Updated: Aug 14, 2026
06:49
A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS
Published on: October 6, 2015
[Familial amyotrophic lateral sclerosis with rapid progression]
Genko Oyama1, Nana Izawa, Kenji Fujishima
1Department of Neurology, Juntendo University Shizuoka Hospital, 1129 Nagaoka, Izunokuni-shi, Shizuoka 410-2295, Japan.
No to Shinkei = Brain and Nerve
|December 21, 2005
Summary
This study describes a family with a rare autosomal dominant motor neuron disease. The condition rapidly progresses, leading to respiratory failure and a locked-in state, suggesting a novel genetic cause beyond SOD1 mutations.
Area of Science:
- Neurology
- Genetics
Background:
- Autosomal dominant (AD) motor neuron disease presents a significant diagnostic challenge.
- Understanding the genetic basis of familial ALS is crucial for developing targeted therapies.
Observation:
- A family exhibited rapid-onset motor neuron disease with autosomal dominant inheritance.
- Patients presented with progressive muscle weakness, fasciculations, and bulbar involvement.
- Cerebrospinal fluid (CSF) showed elevated protein, and electrophysiology indicated neurogenic changes without conduction block.
Findings:
- Despite treatments including IVIg and steroids, patients rapidly deteriorated, requiring mechanical ventilation within months.
- The disease progressed to quadriplegia and a locked-in state in affected family members.
- Genetic analysis excluded SOD1 mutations, suggesting a novel gene responsible for this form of AD-ALS.
Implications:
- This case highlights a potential new genetic locus for autosomal dominant amyotrophic lateral sclerosis (AD-ALS).
- Further research is needed to identify the causative gene and understand the disease mechanism.
- This discovery could pave the way for new diagnostic and therapeutic strategies for familial ALS.
Related Concept Videos
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,...
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...
01:29Alzheimer 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...
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...
01:23Alzheimer 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...