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Updated: Jul 4, 2025

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SPTLC2变异与早期发病的ALS和FTD有关,这是由于异常的脂合成导致的

Hiroya Naruse1,2, Hiroyuki Ishiura1,3, Kayoko Esaki4

  • 1Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Annals of clinical and translational neurology
|February 5, 2024
PubMed
概括

SPTLC2中的新遗传变异与早期发生的肌缩性侧面硬化症 (ALS) 有关. 这一发现将脂体代谢功能障碍与ALS联系起来,提供了新的治疗点.

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