<i>INF2</i> ‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
Although INF2 variants are a rare cause of CMT in Japan, they should be considered in pediatric patients with demyelinating neuropathy and early-onset proteinuria, even in the absence of a family history. Blood and urine tests assessing renal dysfunction can provide guidance for appropriate genetic testing.
Authors
- Yujiro Higuchi (ORCID: https://orcid.org/0000-0002-5579-4384)
- Yusuke Sakiyama (ORCID: https://orcid.org/0000-0003-0691-1705)
- Hiroyuki Ishiura (ORCID: https://orcid.org/0000-0003-2975-7309)
- Ayako Miyazaki (ORCID: https://orcid.org/0000-0002-9572-6925)
- Chinatsu Kinjo
- Takahiro Hobara (ORCID: https://orcid.org/0009-0001-2900-182X)
- Nanami Yamanaka (ORCID: https://orcid.org/0009-0007-5017-8711)
- Kenichi Todo (ORCID: https://orcid.org/0000-0001-7711-3466)
- Satoshi Nozuma (ORCID: https://orcid.org/0000-0002-4909-7769)
- Yu Hiramatsu (ORCID: https://orcid.org/0000-0002-1217-0870)
- 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)
- Nozomu Matsuda (ORCID: https://orcid.org/0000-0003-3773-6778)
- Takashi Kimura (ORCID: https://orcid.org/0000-0002-0401-7227)
- Toru Yamashita (ORCID: https://orcid.org/0000-0003-3634-5679)
- Tomoki Suichi (ORCID: https://orcid.org/0000-0002-9575-9444)
- Kenji Yokochi
- 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)
- Yoshiyuki Hanaoka
- Haruka Kojima
- Masahiro Ando (ORCID: https://orcid.org/0000-0002-6187-9042)
- Chika Matsuoka (ORCID: https://orcid.org/0000-0002-1965-6056)
- Risa Nagatomo
- Chikashi Yano (ORCID: https://orcid.org/0009-0002-1468-3415)
- Akiko Yoshimura (ORCID: https://orcid.org/0000-0002-1768-3181)
Institutions
- Kagoshima University (JP)
- Fukushima Medical University (JP)
- Chiba University (JP)
- Okayama University (JP)
- Yamaguchi University (JP)
- Kurashiki Central Hospital (JP)
- University of Tokyo Hospital (JP)
- Tokyo Women's Medical University (JP)
- Toyohashi Municipal Hospital (JP)
- The University of Tokyo (JP)
- International University of Health and Welfare (JP)
- Hyogo University (JP)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-09-23
- DOI
- https://doi.org/10.1002/acn3.70205
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kagoshima University
- Ministry of Health, Labour and Welfare
- Chiba University
- Japan Society for the Promotion of Science