Vanishing White Matter Disease With <i>EIF2B2</i> c.254T >A Variant
This report highlights the clinically mild cases of VWM with subtle abnormalities on brain MRI who had the homozygous c.254T >A in <i>EIF2B2</i>, further expanding the clinical spectrum of VWM and underscoring the importance of genetic assessments in the diagnosis of individuals with mild clinical and MRI findings.
Authors
- Hiroyuki Ishiura (ORCID: https://orcid.org/0000-0003-2975-7309)
- Meiko Hashimoto Maeda (ORCID: https://orcid.org/0000-0002-3725-3488)
- Akihiko Mitsutake (ORCID: https://orcid.org/0000-0002-9165-0193)
- Ryo Tokimura (ORCID: https://orcid.org/0000-0001-9867-6495)
- Tatsushi Toda (ORCID: https://orcid.org/0000-0002-0717-1123)
- Yoko Tsuboyama (ORCID: https://orcid.org/0000-0001-9173-3012)
- Jun Mitsui (ORCID: https://orcid.org/0000-0001-7425-4765)
- Shoji Tsuji (ORCID: https://orcid.org/0000-0001-5602-5686)
- Wataru Gonoi (ORCID: https://orcid.org/0000-0002-5018-4683)
- Toshiyuki Kakumoto (ORCID: https://orcid.org/0000-0002-1147-9454)
- Takashi Matsukawa (ORCID: https://orcid.org/0000-0002-5925-9450)
- Jun Shimizu (ORCID: https://orcid.org/0000-0002-9828-6494)
- Atsushi Iwata (ORCID: https://orcid.org/0000-0001-7308-5314)
- Yasufumi Hayashi
Institutions
- Tokyo University of Technology (JP)
- Okayama University (JP)
- University of Tokyo Health Sciences (JP)
- Tokyo Metropolitan Institute of Gerontology (JP)
- Tokyo Metropolitan Geriatric Hospital (JP)
- Mita Hospital (JP)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-08-27
- DOI
- https://doi.org/10.1212/nxg.0000000000200293
- Citations
- 3
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Japan Agency for Medical Research and Development
- Ministry of Education, Culture, Sports, Science and Technology
- Japan Society for the Promotion of Science