Lou Gehrig's Disease or Amyotrophic Lateral Sclerosis (ALS) is a neurological disorder characterized by progressive degeneration of motor neuron cells in the spinal cord and brain, which ultimately results in paralysis and death. The disease takes its less-scientific name from Lou Gehrig, a baseball player with the New York Yankees in the late 1920s and 1930s, who was forced to retire in 1939 as a result of the loss of motor control caused by the disease.
In 1991, a team of researchers linked familial ALS to chromosome 21. Two years later, the SOD1 gene was identified as being associated with many cases of familial ALS. The enzyme coded for by SOD1 carries out a very important function in cells: it removes dangerous superoxide radicals by converting them into non-harmful substances. Defects in the action of this enzyme mean that the superoxide radicals attack cells from the inside, causing their death. Several different mutations in this enzyme all result in ALS, making the exact molecular cause of the disease difficult to ascertain.
Recent research has suggested that treatment with drugs called antioxidants may benefit ALS patients. However, since the molecular genetics of the disease are still unclear, a significant amount of research is still required to design other promising treatments for ALS.
Eikonoklastes Therapeutics, a preclinical stage biopharmaceutical company, today announced it has completed a license with the University of California San Diego to add a novel gene therapy for the treatment of neurodegenerative diseases.
The neuromuscular junction-;where nerves and muscle fibers meet-;is an essential synapse for muscle contraction and movement.
A team led by investigators at Massachusetts General Hospital has shown that people living with amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, who carry a mutation in the C9orf72 gene exhibit elevated levels of tau and phosphorylated tau protein in the motor cortex region of the brain.
A new study using genetically engineered mice and human cell and tissue samples has added to evidence that higher levels of inflammatory chemicals involved in fat metabolism occur in people with amyotrophic lateral sclerosis (ALS), the neuromuscular disorder, also known as Lou Gehrig's disease.
The highest-ever resolution imaging of an infectious prion provides the first atomic-level data of how these abnormal proteins are assembled to cause fatal neurodegenerative diseases in people and animals-; and how they can be potentially targeted by new therapies.
Healthy adult brains are endowed with a vast number of synapses, structures that relay signals across nerve cells to enable communications, information processing and storage throughout the nervous system.
At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease.
Cedars-Sinai has been awarded $11.99 million by California's stem cell agency to launch a clinical trial testing a potential gene and stem cell therapy for amyotrophic lateral sclerosis (ALS).
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that strikes nearly 5,000 people in the U.S. every year. About 10% of ALS cases are inherited or familial, often caused by an error in the C9orf72 gene.
Researchers at University of California San Diego School of Medicine, with colleagues elsewhere, have used gene therapy to prevent learning and memory loss in a mouse model of Alzheimer's disease (AD), a key step toward eventually testing the approach in humans with the neurodegenerative disease.
Neurological disorders are the number one cause of disability in the world, leading to seven million deaths each year. Yet few treatments exist for these diseases, which progressively diminish a person's ability to move and think.
Researchers exploring the developing central nervous system of fruit flies have identified nonelectrical cells that transition the brain from highly plastic into a less moldable, mature state.
In general, the RAN proteins are more abundant in the cell nucleus, but in patients with Lou Gehrig's disease, they begin to leak out into the cytoplasm, thereby resulting in abnormal concentration differences.
Anita Baron first noticed something was wrong in August 2018, when she began to drool. Her dentist chalked it up to a problem with her jaw.
The antiepileptic drug ezogabine reduced pathologic excitability of cortical and spinal motor neuron cells that are early signs of clinical dysfunction in people with amyotrophic lateral sclerosis (ALS), according to a study conducted by the Neurological Clinical Research Institute of Massachusetts General Hospital.
Scientists at Sanford Burnham Prebys Medical Discovery Institute have created a drug that can lure stem cells to damaged tissue and improve treatment efficacy--a scientific first and major advance for the field of regenerative medicine.
Research on genetic heart disease has uncovered a new and unexpected mechanism for heart failure. This landmark discovery found a correlation between the clumping of RNA-binding proteins long linked to neurodegenerative disease and the aggregates of protein found in the heart tissue of patients with RBM20 dilated cardiomyopathy.
Mayo Clinic researchers, along with national and global collaborators, have developed a potential test for Machado-Joseph disease, or spinocerebellar ataxia type 3 (SCA3) ? a disease that has no cure.
An experimental medication that was recently shown to slow the progression of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, has now demonstrated the potential to also prolong patient survival.
Scientists from the John A. Moran Eye Center at the University of Utah have achieved another first in the field of connectomics, which studies the synaptic connections between neurons.