Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis
We identified a pathogenic c.58G>A, p.Ala20Thr SPTLC1 variant in a patient with juvenile ALS, likely inherited from an asymptomatic parent with mosaicism. Lipid analysis results are consistent with previous findings on SPTLC1-associated ALS. Further studies are necessary to determine the clinical effect of mosaic variants of SPTLC1.
Authors
- Hiroyuki Ishiura (ORCID: https://orcid.org/0000-0003-2975-7309)
- Yasushi Oya (ORCID: https://orcid.org/0000-0001-9937-8350)
- Hiroya Naruse (ORCID: https://orcid.org/0000-0002-1190-0499)
- Peter Greimel (ORCID: https://orcid.org/0000-0002-4931-6183)
- Kayoko Esaki (ORCID: https://orcid.org/0009-0005-0043-4401)
- Jun Mitsui (ORCID: https://orcid.org/0000-0001-7425-4765)
- Shoji Tsuji (ORCID: https://orcid.org/0000-0001-5602-5686)
- Atsushi Sudo (ORCID: https://orcid.org/0000-0002-2722-910X)
- Wataru Satake
- Takeo Yoshikawa (ORCID: https://orcid.org/0000-0003-2791-6679)
- S Okubo (ORCID: https://orcid.org/0000-0002-7883-8300)
- Nanoka Shingai
- Takashi Matsukawa (ORCID: https://orcid.org/0000-0002-5925-9450)
- Tatsushi Toda
Institutions
- Okayama University (JP)
- Sojo University (JP)
- RIKEN Center for Brain Science (JP)
- National Center of Neurology and Psychiatry (JP)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1007/s00415-024-12776-5
- Citations
- 2
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.74
Funders
- Japan Agency for Medical Research and Development
- Ministry of Health, Labour and Welfare
- University of Tokyo
- Japan Society for the Promotion of Science
- RIKEN