Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Conclusions
SPTLC2 is the second SPT-associated gene that underlies monogenic, juvenile ALS and further establishes alterations of sphingolipid metabolism in motor neuron disease pathogenesis. Our findings also have important therapeutic implications: serine supplementation must be avoided in SPT-associated ALS, as it is expected to drive pathogenesis further.

Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Syeda, S. B., Lone, M. A., Mohassel, P., Donkervoort, S., Munot, P., Franca, M. C., Galarza-Brito, J. E., Eckenweiler, M., Asamoah, A., Gable, K., Majumdar, A., Schumann, A., Gupta, S. D., Lakhotia, A., Shieh, P. B., Foley, A. R., Jackson, K. E., Chao, K. Tags: Open access Neuromuscular Source Type: research