SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights
This study reveals the clinical variability and likely underdiagnosis of SOD1-IPN, supporting the integration of SOD1 screening in IPN genetic testing, especially for patients with asymmetric, length-dependent axonal neuropathy evident in clinical and electrophysiological assessments.
Authors
- Yujiro Higuchi (ORCID: https://orcid.org/0000-0002-5579-4384)
- Yusuke Sakiyama (ORCID: https://orcid.org/0000-0003-0691-1705)
- 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)
- Yuji Okamoto (ORCID: https://orcid.org/0009-0009-9892-0828)
- Shoji Tsuji (ORCID: https://orcid.org/0000-0003-3607-8355)
- Fumikazu Kojima (ORCID: https://orcid.org/0009-0004-7867-2285)
- Jun Mitsui (ORCID: https://orcid.org/0000-0001-7425-4765)
- Akihiro Hashiguchi (ORCID: https://orcid.org/0000-0002-6114-998X)
- 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)
- Masahiro Ando (ORCID: https://orcid.org/0000-0002-6187-9042)
- Takeshi Matsushige
- Chikashi Yano (ORCID: https://orcid.org/0009-0002-1468-3415)
- Akiko Yoshimura (ORCID: https://orcid.org/0000-0002-1768-3181)
Institutions
- Kagoshima University (JP)
- Yamaguchi University (JP)
- University of Tokyo Hospital (JP)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-02-11
- DOI
- https://doi.org/10.1007/s00415-025-12925-4
- Citations
- 3
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 4.17
Funders
- Kagoshima University
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science