Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan
The severity of psychomotor delay in patients with tubulinopathy may be related to the degree and extent of cortical dysplasia. Asymmetric basal ganglia dysplasia is a specific MRI finding of tubulinopathy. The clinical features and MRI findings associated with the TUBB4A variant differ from those of other tubulinopathies.
Authors
- Tomohide Goto (ORCID: https://orcid.org/0000-0002-5791-4837)
- Kenji Kurosawa (ORCID: https://orcid.org/0000-0002-6817-7748)
- Azusa Ikeda (ORCID: https://orcid.org/0000-0001-5590-5606)
- Megumi Tsuji (ORCID: https://orcid.org/0000-0002-3572-6704)
- Mizue Iai
- Yu Tsuyusaki (ORCID: https://orcid.org/0000-0003-2993-6526)
- Noriko Aida (ORCID: https://orcid.org/0000-0002-2776-2115)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Tamaki Ikegawa
- Kana Osada
Institutions
- Kanagawa Children's Medical Center (JP)
- Yokohama City University (JP)
Publication Details
- Journal
- Brain and Development
- Published
- 2025-04-04
- DOI
- https://doi.org/10.1016/j.braindev.2025.104356
- Citations
- 3
- Primary Topic
- Microtubule and mitosis dynamics
- Type
- article
- Field-Weighted Citation Impact
- 3.45
Funders
- Takeda Science Foundation
- Japan Agency for Medical Research and Development