Loss of C9orf72, a protein whose corresponding gene is among those most often mutated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), causes an imbalance in the metabolism of fats (lipids) in motor neurons, a new study shows. These findings suggest that an imbalance in energy and lipid metabolism…
Mutation Common to ALS Affects How Lipids Are Metabolized in Motor Neurons, Study Shows
Health conditions that may lead to a faster metabolism, or higher metabolic rate, may contribute to the development of amyotrophic lateral sclerosis (ALS), a large-scale, population-based study suggests. The study, “Finding diseases associated with amyotrophic lateral sclerosis: a total population-based case–control study,” was published in the…
Sensory nerves carrying mutations in the TDP-43 or SOD1 genes — associated with the development of a…
Mutations that affect a particular molecular pathway essential to protein production further support reports of a link between amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). The study detailing this finding, “The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex,”…
A gene therapy effectively and safely lowered the production of a key amyotrophic lateral sclerosis (ALS) protein called superoxide dismutase 1 (SOD1) in primates, according to a new study. “This level of silencing, coupled with the lack of adverse effects, suggests that this approach to treating ALS should be…
When I learned I had ALS, my whole world changed, because on that day, I officially became an ALS patient. My husband’s world changed as well because, just as suddenly, he became my caregiver. I appreciate his taking on this challenging responsibility more than he’ll ever know.
Specific proteins analyzed in cerebral spinal fluid and blood samples may help to diagnose amyotrophic lateral sclerosis (ALS) and predict patient outcomes, researchers report. Cerebral spinal fluid (CFS) protein patterns helped to identify 94% of ALS patients in their study, and the levels of three specific proteins were seen to…
Living in the present has always been hard for me. I had such grand dreams for my future. It is hard to come to terms with the fact that I won’t go on a camel trek in the Sahara and spend the night under the most beautiful…
The prevalence of motor nerve diseases — including amyotrophic lateral sclerosis (ALS) — is on the rise worldwide, mostly because of an aging population. The disease burden is greatest in high-income countries, according to a global analysis of data from 1990 to 2016. The study, “Global, regional,…
To bring attention to the plight of teens touched by amyotrophic lateral sclerosis (ALS), Mitsubishi Tanabe Pharma America (MTPA) is calling for artistic submissions from young people who have a family member with the disease. Called ALSO US, the new initiative is open to U.S. teenagers and young…
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