C9ORF72 Mutation Linked to High Risk of Melanoma in ALS and FTLD Patients in Study

Amyotrophic lateral sclerosis (ALS) or frontotemporal lobar degeneration (FTLD) patients with the C9ORF72 mutation are at an unusually high risk of malignant skin cancer and should be monitored for it, a study suggests. The study, “Increased risk of melanoma in C9ORF72…

Before ALS, whenever I thought about the future, I assumed my life would continue in a state of health and happiness, filled with lots of interesting activities. But in 2010, when I learned I had ALS, thinking about my future became very dismal and frightening. My mind…

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…

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…