Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report
We found two novel complex heterozygous mutations, c.6738_6739insT and c.5934_5935insTAACCTGGAA, which enriched the phenotypic spectrum of SPG11 mutations related to hereditary spastic paraplegia and may help to determine the molecular mechanism of hereditary spastic paraplegia with thinning of the corpus callosum.
Authors
- Zhong Luo (ORCID: https://orcid.org/0000-0002-7574-3293)
- Ai‐Di Luo
- Zucai Xu (ORCID: https://orcid.org/0000-0002-6849-7928)
- Aidi Luo (ORCID: https://orcid.org/0000-0001-8759-8356)
Institutions
- Guangxi Medical University (CN)
- Zunyi Medical University (CN)
- Fourth Affiliated Hospital of Guangxi Medical University (CN)
- The First People's Hospital of Guiyang (CN)
- Affiliated Hospital of Zunyi Medical College (CN)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1186/s13256-025-05684-3
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00