User-friendly Tool May Help Patients and Their Doctors to Evaluate ALS Genetic Risk

Examining the genetic risk for amyotrophic lateral sclerosis (ALS) may become a lot easier with a user-friendly tool called ALSgeneScanner, which is meant to be used by non-specialists such as health care professionals and patients. The method is able to analyze DNA sequencing data from patients and distinguish…

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…

“She put me through some changes, Lord, sort of like a Waring blender. Poor, poor, pitiful me. Poor, poor, pitiful me.” –Warren Zevon *** The other day while I was ruminating about the burdens that ALS imposes, a call of nature provided an intervention of…

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…

Stick around, because the weather will always change! That was a life lesson I learned while growing up in Iowa. Spring in Iowa often meant that one day we’d be wearing parkas, the next day T-shirts and shorts, and then back to wearing heavy parkas again. We knew…

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…