Emerging role for sphingolipids in the genetics of amyotrophic lateral sclerosis

Neurodevelopmental contributions to disease causation While the mechanisms that trigger the development of amyotrophic lateral sclerosis (ALS) remain to be determined, recent decades have witnessed a surge of clinical and community interest, and the emergence of a therapeutic pipeline. At the most basic level of interpretation, neurodegeneration in ALS reflects a complex interplay between genetic factors and the environment, with consequent dysfunction of molecular pathways and network circuitry.1 Of relevance to this expanding knowledge about disease pathogenesis, the present issue of JNNP includes scientific report of a childhood-onset form of the disease, marked by progressive weakness, with evidence of upper and lower motor neuron degeneration,2 in the presence of normal sensory function.3 In this particular cohort of patients, elevated levels of ceramides were identified, with abnormal sphingolipid synthesis linked to the SPTLC2 gene thought to underlie this monogenic form of juvenile ALS.
Source: Journal of Neurology, Neurosurgery and Psychiatry - Category: Neurosurgery Authors: Tags: Editorial commentaries Source Type: research