Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

doi:10.1038/s41591-021-01346-1

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Article

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

Nature medicine - 1 Jul 2021

Mohassel Payam, Donkervoort Sandra, Lone Museer A, Nalls Matthew, Gable Kenneth, Gupta Sita D, Foley A Reghan, Hu Ying, Saute Jonas Alex Morales, Moreira Ana Lucila, Kok Fernando, Introna Alessandro, Logroscino Giancarlo, Grunseich Christopher, Nickolls Alec R, Pourshafie Naemeh, Neuhaus Sarah B, Saade Dimah, Gangfuß Andrea, Kölbel Heike, Piccus Zoe, Le Pichon Claire E, Fiorillo Chiara, Ly Cindy V, Töpf Ana, Brady Lauren, Specht Sabine, Zidell Aliza, Pedro Helio, Mittelmann Eric, Thomas Florian P, Chao Katherine R, Konersman Chamindra G, Cho Megan T, Brandt Tracy, Straub Volker, Connolly Anne M, Schara Ulrike, Roos Andreas, Tarnopolsky Mark, Höke Ahmet, Brown Robert H, Lee Chia-Hsueh, Hornemann Thorsten, Dunn Teresa M, Bönnemann Carsten G

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the lower and upper motor neurons with sporadic or hereditary occurrence. Age of onset, pattern of motor neuron degeneration and disease progression vary widely among individuals with ALS. Various cellular processes may drive ALS pathomechanisms, but a monogenic direct metabolic disturbance has not been causally linked to ALS. Here...

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Identifiers

PMID: 34059824
DOI: 10.1038/s41591-021-01346-1
PMCID: PMC9309980

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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