Frameshift and Copy Number Variants in <i>SACS</i> -Related Neuropathy
This study defines the contribution of <i>SACS</i> variants in a large case series of Japanese patients with IPN/CMT disease and delineates the heterogeneous genotypic and phenotypic spectrum of <i>SACS</i>-related neuropathies. The high frequency of gene-level deletions underscores the necessity of incorporating CNV analysis into the genetic diagnostic workflow for <i>SACS</i>-related disorders.
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 Ohyama (ORCID: https://orcid.org/0000-0001-6029-6630)
- 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)
- Shoji Tsuji (ORCID: https://orcid.org/0000-0001-5602-5686)
- 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)
- Akiko Yoshimura (ORCID: https://orcid.org/0000-0002-1768-3181)
Institutions
- Kagoshima University (JP)
- University of Tokyo Hospital (JP)
- Precision for Medicine (United States) (US)
- International University of Health and Welfare (JP)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1212/nxg.0000000000200318
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00