Later-onset forms of  spinal muscular atrophy (SMA) are linked to extensive atrophy in the cervical spinal cord, particularly in gray matter of the vertebrae, that may begin long before symptoms are evident, researchers report. The study, “The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study,”…
Researchers at Stanford University School of Medicine found that a molecule called Activating Signal Cointegrator 1 (ASC-1) acts “a central hub” for proteins involved in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), suggesting that both disorders “are more intimately tied to one another than previously…
Researchers from the University of North Carolina have described 14 different fruit fly models that mimic all the types of spinal muscular atrophy (SMA) seen in patients. These include SMA type 4, also known as adult-onset SMA, which has been particularly hard to replicate in other animal models…
Researchers have successfully generated stable lines of spinal cord neural stem cells (NSCs), which, when transplanted into a rat model of spinal cord injury, were able to become multiple types of neurons and drive spine regeneration. Derived from human embryonic stem cells (hESCs), these induced cells also included progenitors that give rise…
Specific patterns of DNA modifications in the DYNC1H1 gene are directly associated with spinal muscular atrophy severity in different forms of the disease. These findings could be the first step toward the identification of new SMA modifiers. The study, “DYNC1H1 gene methylation correlates with severity of spinal muscular…
