Tag: Amyotrophic Lateral Sclerosis
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion
The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expa…
Private Medicare Plans Must Cover Biogen’s ALS Drug, US Agency Says
The Centers for Medicare & Medicaid Services has directed private insurers providing Medicare Advantage plans to cover Biogen’s amyotrophic lateral sclerosis drug… Reuters Health Information
Defects in Exosome Biogenesis Are Associated with Sensorimotor Defects in Zebrafish vps4a Mutants
Mutations in human VPS4A are associated with neurodevelopmental defects, including motor delays and defective muscle tone. VPS4A encodes a AAA-ATPase required for membrane scission, but how mutations in VPS4A lead to impaired control of motor function is not known. Here we identified a mutation in zebrafish vps4a, T248I, that affects sensorimotor transformation. Biochemical analyses indicate… Continue reading Defects in Exosome Biogenesis Are Associated with Sensorimotor Defects in Zebrafish vps4a Mutants
Barriers to Tofersen Therapy for Variant SOD1 -Mediated ALS
This Viewpoint advocates for the accelerated adoption of tofersen therapy to treat patients with variant SOD1-mediated amyotrophic lateral sclerosis (ALS) and describes the current barriers to treatment.
Human VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB
Microglia play crucial roles in maintaining neuronal homeostasis but have been implicated in contributing to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the role of microgli…
When muscles work out, they help neurons to grow, a new study shows
There’s no doubt that exercise does a body good. Regular activity not only strengthens muscles but can bolster our bones, blood vessels, and immune system. Now, MIT engineers have found that exercise can also have benefits at the level of individual neurons. They observed that when muscles contract during exercise, they release a soup of… Continue reading When muscles work out, they help neurons to grow, a new study shows
Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypes
Al-Azzam et al. reveal that SmD1, a member of the SMN complex, regulates CHMP7 translocation. Reduced SmD1 expression in sporadic ALS leads to CHMP7 nuclear translocation, while overexpression prevents it, highlighting SmD1’s role in ALS pathogenesis.
Veterans Affairs Hailed as a ‘Bright Spot’ in ALS Care
Teamwork and interdisciplinary collaboration create an effective system of ALS care ensuring improved health both for patients and clinicians alike, said one expert. Medscape Medical News
Brain pathways that control dopamine release may influence motor control
Within the human brain, movement is coordinated by a brain region called the striatum, which sends instructions to motor neurons in the brain. Those instructions are conveyed by two pathways, one that initiates movement (“go”) and one that suppresses it (“no-go”). In a new study, MIT researchers have discovered an additional two pathways that arise… Continue reading Brain pathways that control dopamine release may influence motor control