Patricia Inácio, PhD,  science writer—

Three recent studies published in the journals Nature and Nature Neuroscience identified a mutation in some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) that leads to neuronal death by disrupting the movement of molecules within the cellular nucleus. ALS and FTD are characterized by death…

Two new studies, one entitled “GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport” and another “The C9orf72 repeat expansion disrupts nucleocytoplasmic transport”, report the discovery of a key mechanism underlying amyotrophic lateral sclerosis’ onset which is associated with C9orf72 mutation (the most common genetic defect…

In a recent study entitled “ALS-Linked P56S-VAPB Mutation Impairs the Formation of Multinuclear Myotube in C2C12 Cells” researchers investigated the role of a mutation associated with ALS type-8 (ALS8)  – P56S-VAPB mutation – on skeletal muscle cells homeostasis and muscle formation. The study was published in the…

In a new study entitled “Acute traumatic brain injury does not exacerbate ALS in the SOD1 model” researchers report that a one-time traumatic injury to the brain is not an accelerating factor for amyotrophic lateral sclerosis progression. The study was published in the eNeuro…

In a new study entitled “Neural population dynamics in human motor cortex during movements in people with ALS” researchers at Stanford University shed light on how the brain controls muscle movement. Their findings may help accelerate the development of prosthetic devices for patients with motor neuron…

In a recent study entitled “Diabetes Mellitus, Obesity, and Diagnosis of Amyotrophic Lateral Sclerosis – A Population-Based Study” researchers investiagated the link between diabetes and amyotrophic lateral sclerosis, confirming that type 2 diabetes, but not type 1, has a protective role against amyotrophic lateral sclerosis evidenced specially in…

In a new study entitled “Dietary Vitamin D3 Restriction Exacerbates Disease Pathophysiology in the Spinal Cord of the G93A Mouse Model of Amyotrophic Lateral Sclerosis,” researchers evaluated the effects of a Vitamin D dietary restriction in the pathogenesis of Amyotrophic lateral sclerosis. The study was performed with…

In a new study entitled “Phase I Trial of Repeated Intrathecal Autologous Bone Marrow-derived Mesenchymal Stromal Cells in Amyotrophic Lateral Sclerosis,” researchers performed a safety study with stem cells based therapy to treat Amyotrophic Lateral Sclerosis patients and concluded it as a safe and promising therapy. The…

In a new study entitled “Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS,” researchers report to have identified rare genetic variants underlying sporadic cases of amyotrophic lateral sclerosis. The study was published in the journal Scientific…

In a new study entitled “Neuronal death induced by misfiled prion protein is due to NAD+ depletion and can be relieved in vitro and in vivo by NAD+ replenishment,” researchers report that in protein misfolding neurodegenerative diseases such as Alzheimer’s, Parkinson’s and Amyotrophic Lateral Sclerosis, neuronal death…