Article
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.
Neurogenetics - 1 Jul 2020
Wang Jianda, Hou Yanqi, Qi Lina, Zhai Shuang, Zheng Liangwu, Han Lin, Guo Yufan, Zhang Bijun, Miao Pu, Lou Yuting, Xu Xiaoxiao, Wang Ye, Ren Yanqi, Cao Zhenhua, Feng Jianhua
Abstract excerpt
Hereditary spastic paraplegias (HSP) are a group of rare neurodegenerative diseases characterized by progressive spastic paraparesis. UBAP1 was recently found to induce a rare type of HSP (SPG80). We identified a family with eight inherited spastic paraplegic patients carrying a novel heterozygous mutation c.279delG (p.S94Vfs*9) of UBAP1. We demonstrated a lack of functional UBAP1 in these patients, resulting in...
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