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Article

Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis.

Journal of neurology - 12 Dec 2024

Okubo So, Naruse Hiroya, Ishiura Hiroyuki, Sudo Atsushi, Esaki Kayoko, Mitsui Jun, Matsukawa Takashi, Satake Wataru, Greimel Peter, Shingai Nanoka, Oya Yasushi, Yoshikawa Takeo, Tsuji Shoji, Toda Tatsushi

Abstract excerpt

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder of the motor system. Pathogenic variants in SPTLC1, encoding a subunit of serine palmitoyltransferase, cause hereditary sensory and autonomic neuropathy type 1 (HSAN1), and have recently been associated with juvenile ALS. SPTLC1 variants associated with ALS cause elevated levels of sphinganines and ceramides. Reports on...

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Identifiers

PMID: 39666121
DOI: 10.1007/s00415-024-12776-5
PMCID: PMC11638311

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