New genetic form of ALS discovered
ANI
01 Jun 2021, 21:55 GMT+10
Washington [US], June 1 (ANI): In a study of 11 medical-mystery patients, an international team of researchers led by scientists at the National Institutes of Health and the Uniformed Services University (USU) discovered a new and unique form of amyotrophic lateral sclerosis (ALS).
Unlike most cases of ALS, the disease began attacking these patients during childhood, worsened more slowly than usual, and was linked to a gene, called SPTLC1, which is part of the body s fat production system. Preliminary results suggested that genetically silencing SPTLC1 activity would be an effective strategy for combating this type of ALS.
Study reveals that brain injuries can cause intracellular transport defects that can potentially lead to protein build-up and neurodegenerative disease.
Mysterious Form of ALS Identified in Children With Rare Genetic Mutations
1 JUNE 2021
A previously unknown form of a severe and progressive neurodegenerative disease that usually affects older adults has been identified in children as young as three years of age.
Amyotrophic lateral sclerosis (ALS) is a rare neurological disorder where motor neuron degeneration leads to serious impairments in voluntary muscle movement.
The condition, which causes increasing weakness in muscles throughout the body, makes walking, talking, and eventually even breathing a struggle, leading to death in most patients within a few years of symptoms showing.
The majority of ALS cases emerge in people aged between 55 and 75, and most cases are considered sporadic, with the cause ultimately remaining unknown.