2024
DOI: 10.1002/acn3.52013
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SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis

Hiroya Naruse,
Hiroyuki Ishiura,
Kayoko Esaki
et al.

Abstract: ObjectiveAmyotrophic 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.MethodsOur 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 o… Show more

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