Article
Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jan 2022
Hsu Shao-Lun, Lu Yi-Jiun, Tsai Yu-Shuen, Chao Hua-Chuan, Fuh Jong-Ling, Liao Yi-Chu, Lee Yi-Chung
Abstract excerpt
BACKGROUND/PURPOSE: Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and weakness. HSP type 15 (SPG15) is an autosomal recessive subtype caused by ZFYVE26 mutations. The aim of this study was to investigate the frequency and clinical and genetic features of ZFYVE26 mutations in a Taiwanese HSP cohort....
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