Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Introduction Juvenile amyotrophic lateral sclerosis (JALS) is a rare and severe motor neuron disease defined by an onset before the age of 25 with currently no available therapy. Only a few genes have been linked to JALS such as ALS2, FUS, SETX, SPG11, SIGMAR1, and more recently SPTLC1. This gene encodes one of the subunits of serine palmitoyltransferase (SPT), which is the first enzyme for de novo sphingolipid biosynthesis.1 Initially, SPTLC1 was a known cause of hereditary sensory and autonomic neuropathy, type 1A.2 In 2021, Johnson et al3 and Mohassel et al4 extended the phenotype associated with this gene by reporting several mutations of SPTLC1 in patients with JALS. Methods We performed molecular analysis of 1130 patients with ALS, with 50 of them meeting the criteria for juvenile ALS. Plasma lipid profile of patients with SPTLC1 mutation were...

Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Guissart, C., De la Cruz, E., Flabeau, O., Grapperon, A.-M., Corazza, G., Junilhon, L., Delmas, J.-C., Millecamps, S., Polge, A., Amador, M. d. M., Salachas, F., Rochat, J., Goizet, C., Juntas Morales, R., Lumbroso, S., Philibert, P., Cheillan, D., Mouzat Tags: PostScript Source Type: research