Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by ABHD16A gene variants: an integrated analysis based on novel variants and literature review
To our knowledge, this is the first reported case of <i>ABHD16A</i>-related neurodevelopmental disorder in a Chinese patient. We provide a detailed phenotypic characterization and an updated review of the published literature to support clinical recognition and genetic diagnosis of this emerging condition.
Authors
- Yiyun Huang (ORCID: https://orcid.org/0000-0002-6757-3220)
- Shaoke Chen
- Qingxiu Zhao (ORCID: https://orcid.org/0000-0001-6990-6511)
- Chuan Li (ORCID: https://orcid.org/0000-0002-5612-522X)
- Xin Fan (ORCID: https://orcid.org/0000-0003-0307-1675)
- Bobo Xie
- Manling He
- Qiang Zhang
Institutions
- Guangxi Medical University (CN)
- Guangxi Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2026-01-05
- DOI
- https://doi.org/10.3389/fped.2025.1724515
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Guangxi Zhuang Autonomous Region
- National Natural Science Foundation of China
- Guangxi Zhuang Region Health Department
- Guangxi Medical University