Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.

doi:10.1136/jnnp-2023-332130

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Article

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.

Journal of neurology, neurosurgery, and psychiatry - 14 Feb 2024

Dohrn Maike F, Beijer Danique, Lone Museer A, Bayraktar Elif, Oflazer Piraye, Orbach Rotem, Donkervoort Sandra, Foley A Reghan, Rose Aubrey, Lyons Michael, Louie Raymond J, Gable Kenneth, Dunn Teresa, Chen Sitong, Danzi Matt C, Synofzik Matthis, Bönnemann Carsten G, Nazlı Başak A, Hornemann Thorsten, Zuchner Stephan

Abstract excerpt

BACKGROUND: Amyotrophic lateral sclerosis (ALS) leads to paralysis and death by progressive degeneration of motor neurons. Recently, specific gain-of-function mutations in SPTLC1 were identified in patients with juvenile form of ALS. SPTLC2 encodes the second catalytic subunit of the serine-palmitoyltransferase (SPT) complex. METHODS: We used the GENESIS platform to screen 700 ALS whole-genome and whole-exome...

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Identifiers

PMID: 38041684
DOI: 10.1136/jnnp-2023-332130
PMCID: PMC10922288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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