A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy
We suggest that patients with KIDINS220 SAM domain mutation may present with HSP accompanied by severe, mixed axonal and demyelinating PN, expanding the existing spectrum of the clinical phenotypes and pathogenic variants of <i>KIDINS220</i>.
Authors
- Xujun Chu (ORCID: https://orcid.org/0000-0002-6497-1979)
- Xiaoyu Liu (ORCID: https://orcid.org/0000-0001-5928-0244)
- Yilei Zheng (ORCID: https://orcid.org/0009-0002-5561-4598)
- Yun Yuan (ORCID: https://orcid.org/0000-0003-3282-9123)
- Jin Xu (ORCID: https://orcid.org/0000-0002-6287-5633)
- Rui Wu (ORCID: https://orcid.org/0000-0001-7804-7691)
Institutions
- Peking University (CN)
- Shandong Provincial Hospital (CN)
- Peking University First Hospital (CN)
- Shandong First Medical University (CN)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2025-10-14
- DOI
- https://doi.org/10.3389/fnins.2025.1684980
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Shandong Province