SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis

Objective Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early‐onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these cases to enhance our understanding of disease etiology and facili...

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Published in:Annals of clinical and translational neurology 2024-04, Vol.11 (4), p.946-957
Main Authors: Naruse, Hiroya, Ishiura, Hiroyuki, Esaki, Kayoko, Mitsui, Jun, Satake, Wataru, Greimel, Peter, Shingai, Nanoka, Machino, Yuka, Kokubo, Yasumasa, Hamaguchi, Hirotoshi, Oda, Tetsuya, Ikkaku, Tomoko, Yokota, Ichiro, Takahashi, Yuji, Suzuki, Yuta, Matsukawa, Takashi, Goto, Jun, Koh, Kishin, Takiyama, Yoshihisa, Morishita, Shinichi, Yoshikawa, Takeo, Tsuji, Shoji, Toda, Tatsushi
Format: Article
Language:English
Subjects:
Adult
Amyotrophic Lateral Sclerosis - genetics
Ceramides
Frontotemporal Dementia - genetics
Humans
Neurodegenerative Diseases
Serine C-Palmitoyltransferase - genetics
Sphingolipids
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Summary:Objective Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early‐onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these cases to enhance our understanding of disease etiology and facilitate the development of targeted therapies. Methods Our research commenced with an in‐depth genetic and biochemical investigation of two specific families, each with a member diagnosed with early‐onset ALS (onset age of
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.52013