Diffuse but Non-homogeneous Brain Atrophy: Identification of Specific Brain Regions and Their Correlation with Clinical Severity in Rett Syndrome
The mechanism underlying the cortical-dominant volume reduction remains unclear; however, it may be caused by altered synapse development associated with methyl-CpG-binding protein 2 gene abnormalities. Characteristic impairments in visual recognition and deterioration of motor function in Rett syndrome may be associated with significant volume reduction in specific cortical regions, such as the lateral occipital cortex, precuneus, and precentral gyrus.
Authors
- Jun Natsume (ORCID: https://orcid.org/0000-0002-2081-9449)
- Hajime Narita (ORCID: https://orcid.org/0009-0000-1414-7802)
- Keita Tsujimura (ORCID: https://orcid.org/0000-0002-7464-6133)
- Shinji Naganawa
- Yuji Ito (ORCID: https://orcid.org/0000-0003-0460-9588)
- Satoru Takahashi (ORCID: https://orcid.org/0000-0002-4707-4010)
- Tomohiko Nakata (ORCID: https://orcid.org/0009-0003-4731-0647)
- Atsushi Hashizume (ORCID: https://orcid.org/0000-0002-3098-7390)
- Masahiro Kawaguchi (ORCID: https://orcid.org/0000-0001-9219-9173)
- Hiroyuki Yamamoto (ORCID: https://orcid.org/0000-0002-5268-4606)
- Tadashi Shiohama (ORCID: https://orcid.org/0000-0003-0076-5882)
- Hiroyuki Kidokoro (ORCID: https://orcid.org/0000-0002-7991-8580)
- Takeshi Suzuki (ORCID: https://orcid.org/0000-0002-6787-0225)
- Yoshiyuki Takahashi (ORCID: https://orcid.org/0000-0001-8644-171X)
- Masaki Okazaki
Institutions
- Asahikawa Medical University (JP)
- Chiba University (JP)
- Nagoya University (JP)
Publication Details
- Journal
- Brain and Development
- Published
- 2025-03-27
- DOI
- https://doi.org/10.1016/j.braindev.2025.104348
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science