Charcot–Marie–Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series
This study expands the genetic and phenotypic spectrum of GAN by identifying novel variants and a long-term survivor. These findings underscore the importance of systematic genetic screening for GAN in pediatric-onset CMT, even in the absence of classical features.
Authors
- Yujiro Higuchi (ORCID: https://orcid.org/0000-0002-5579-4384)
- Yusuke Sakiyama (ORCID: https://orcid.org/0000-0003-0691-1705)
- Naoki Fukushima
- Takahiro Hobara (ORCID: https://orcid.org/0009-0001-2900-182X)
- Satoshi Nozuma (ORCID: https://orcid.org/0000-0002-4909-7769)
- Yu Hiramatsu (ORCID: https://orcid.org/0000-0002-1217-0870)
- Fumikazu Kojima (ORCID: https://orcid.org/0009-0004-7867-2285)
- Jun Mitsui (ORCID: https://orcid.org/0000-0001-7425-4765)
- Takashi Shiihara (ORCID: https://orcid.org/0000-0002-0852-7451)
- Akihiro Hashiguchi (ORCID: https://orcid.org/0000-0002-6114-998X)
- Shoji Tsuji (ORCID: https://orcid.org/0000-0001-5602-5686)
- Shiho Okuda
- Hiroshi Takashima (ORCID: https://orcid.org/0000-0003-0989-6141)
- Tomonori Nakamura (ORCID: https://orcid.org/0000-0002-4618-9369)
- Jun‐Hui Yuan (ORCID: https://orcid.org/0000-0002-3808-7813)
- Hiroyuki Awano (ORCID: https://orcid.org/0000-0001-9846-4142)
- Masahiro Ando (ORCID: https://orcid.org/0000-0002-6187-9042)
- Chikashi Yano (ORCID: https://orcid.org/0009-0002-1468-3415)
- Takashi Saito (ORCID: https://orcid.org/0000-0002-8253-7906)
- Akiko Yoshimura (ORCID: https://orcid.org/0000-0002-1768-3181)
- Takahito Inoue (ORCID: https://orcid.org/0000-0003-2496-5424)
- Kento Kodama
Institutions
- Kagoshima University (JP)
- Fukuoka University Hospital (JP)
- Hyogo Prefectural Awaji Medical Center (JP)
- National Center of Neurology and Psychiatry (JP)
- University of Tokyo Hospital (JP)
- National Hospital Organization (JP)
- Gunma Children's Medical Center (JP)
- Tottori University (JP)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
- Hyogo University (JP)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-07-16
- DOI
- https://doi.org/10.1007/s00415-025-13243-5
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kagoshima University
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science
- Research Committee for Ataxic Disease