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 the neurological disorder caused by interceptions of the ESCRT pathway. Extending from the older onset-age identified from this family, we found that comparing with the European and other populations, Asian patients displayed less proportion of severe patients and an older average age at onset. The origins of SPG80 patients associated with both their onset age and their disease severity, while the age at onset was not correlated with the disease severity.

中文翻译：

---

UBAP1突变引起常染色体显性遗传性痉挛性截瘫。

遗传性痉挛性截瘫（HSP）是一组以进行性痉挛性轻瘫为特征的罕见神经退行性疾病。最近发现UBAP1可诱导一种罕见的HSP（SPG80）。我们确定了八个遗传性痉挛性截瘫病人携带一种新型的杂合突变c.279delG家庭（p.S94Vfs * 9）的UBAP1。我们证明了这些患者缺乏功能性UBAP1，导致了由ESCRT通路的截断引起的神经系统疾病。从这个家庭确定的较高发病年龄扩展，我们发现与欧洲和其他人群相比，亚洲患者的重症患者比例较低，平均发病年龄较高。SPG80患者的起源与发病年龄和疾病严重程度相关，而发病年龄与疾病严重程度无关。