News

New genetic mutations in the coding sequence of the GLT8D1 enzyme have been identified and linked to inherited amyotrophic lateral sclerosis (ALS), a study reports. Researchers at the University of Sheffield in the U.K. and their collaborators found that these GLT8D1 gene variants prevented the normal functioning of the enzyme, which…

People affected by depression before being diagnosed with amyotrophic lateral sclerosis (ALS) have a higher risk of developing cognitive impairments at later stages of the disease, a study says. The findings of the study, “Depression and risk of cognitive dysfunctions in amyotrophic lateral sclerosis,” were…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Loss of normal ion flow in the skeletal muscle may worsen symptoms of amyotrophic lateral sclerosis (ALS), a mouse study shows. Researchers have identified several targets that rescue iron flow, namely chloride, in skeletal muscle, highlighting their potential in developing new therapies. The study, “Elucidating the Contribution of Skeletal…

Professional soccer players may be at higher risk of developing amyotrophic lateral sclerosis (ALS) compared to the general population. The preliminary findings will be presented at the 2019 American Academy of Neurology’s (AAN) 71st Annual Meeting, May 4-10 in Philadelphia. According to the study’s data, professional players are twice…

Amyotrophic lateral sclerosis (ALS) patients with higher levels of organic pollutants in their blood have reduced survival rates, according to a study conducted in Michigan. The study, “High plasma concentrations of organic pollutants negatively impact survival in amyotrophic lateral sclerosis,” was published in the Journal…

A modified experimental version of the TDP-43 protein has revealed the underlying mechanisms that support its accumulation and the formation of toxic aggregates implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), a study reports. A detailed understanding of TDP-43-mediated neurotoxicity may help researchers find new targeted…

Loss of a protein known as ubiquilin causes defects in degradation centers called lysosomes, promoting the buildup of brain waste in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, a fruit fly study has found. The study, “Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification,” was published in…

Smoking is associated with a greater risk of developing amyotrophic lateral sclerosis (ALS), according to a new study. The research, “Smoking and Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study,” appeared in the journal Annals of Neurology. Cigarette smoking has been proposed as a risk…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…