SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
Naruse H, Ishiura H, Esaki K, Mitsui J, Satake W, Greimel P, Shingai N, Machino Y, Kokubo Y, Hamaguchi H, Oda T, Ikkaku T, Yokota I, Takahashi Y, Suzuki Y, Matsukawa T, Goto J, Koh K, Takiyama Y, Morishita S, Yoshikawa T, Tsuji S, Toda T.
Naruse H, et al. Among authors: yoshikawa t.
Ann Clin Transl Neurol. 2024 Apr;11(4):946-957. doi: 10.1002/acn3.52013. Epub 2024 Feb 5.
Ann Clin Transl Neurol. 2024.
PMID: 38316966
Free PMC article.