2023
DOI: 10.3389/fgene.2023.1205052
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Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

Shan-Yu Gao,
Yu-Xing Liu,
Yi Dong
et al.

Abstract: Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8). However, due to the small number of reported cases, the exact mechanism remains unclear.Method: We report a Chinese family with HSP. The proband was referred to our hospital due to restless leg syndrome and insomnia. The preliminary clinical diagnosis of the proband was spastic paraplegia. Whole-exome sequen… Show more

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