A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation

Hereditary Spastic Paraplegia (HSP) is considered to be one of the common neurodegenerative diseases with marked genetic heterogeneity. Recently, the mutations in ubiquitin-associated protein 1 (UBAP1) have been described in patients with HSP, known as spastic paraplegias 80 (SPG80). Here, we report...

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Bibliographic Details
Main Authors: Peiqiang Li, Xiande Huang, Senmao Chai, Dalin Zhu, Huirong Huang, Fengdie Ma, Shasha Zhang, Xiaodong Xie
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.936292/full