Complete Loss of SOD1 Function Leads to Severe Motor Problems, Study Says in Warning to Researchers

Mutations causing a complete loss of function of the SOD1 gene lead to severe motor problems, a case study reports, calling for caution in research into silencing this gene as a  potential treatment for people with amyotrophic lateral sclerosis (ALS). The case study, “SOD1 deficiency: a novel syndrome…

Life with ALS is absurd when I think about it. It’s so different than it was before the disease, and with each setback, life gets even stranger. We tried to maintain a normal life, but nothing seems normal about feeding one’s husband in a restaurant. Just a year ago, Todd…

People with amyotrophic lateral sclerosis (ALS) have an altered composition of their gut microbial community, with an increase in harmful microbes and a decrease in beneficial microorganisms, according to a new small study. This altered gut microbiota could drive digestive problems in those with ALS, the researchers said. The…

Consider the wheel. Nothing comparable exists in nature. Its conception was not the byproduct of observation and imitation, but a 100 percent original human brainstorm. Evidence suggests that the first wheels were used for making pottery around 3500 B.C. in Mesopotamia. They weren’t employed for locomotion until 300 years…

Being underweight when they start supported feeding puts patients with amyotrophic lateral sclerosis (ALS) at risk for poor outcomes at later stages of the disease, an Italian study has found. The study, “Nutritional prognostic factors for survival in amyotrophic lateral sclerosis patients undergone percutaneous endoscopic gastrostomy placement,”…

My husband is one of those people who attacks projects from beginning to end with a laser-like focus. Me? Oh, I get things done — well, eventually. Distractions, the tendency to overcommit plus a curiosity to follow “the next big thing” all contribute to my meandering approach. Really,…

Inactivation of ATG7, one of the genes that controls autophagy — a process in which cells degrade or recycle components that are damaged or no longer needed — is linked to the onset of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), a study says. Results from…

Amyotrophic lateral sclerosis (ALS) is characterized by specific changes in brain activity and connectivity, which are associated with motor and cognitive symptoms, an international research team has found. Therefore, measuring the impairment of motor and cognitive networks can be a novel ALS biomarker to evaluate disease progression in clinical trials,…

Noninvasive ventilation (NIV) can be ineffective in preventing episodes of upper airway obstruction in amyotrophic lateral sclerosis (ALS) patients, likely because of unstable breathing control and poorly working bulbar motor neurons — those needed for swallowing, speaking and chewing — in these people, a study suggests.

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…