Department of Pediatrics, The Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, Zhejiang Province, China.
RunningGene Inc., Beijing, 100083, China.
Neurogenetics. 2020 Jul;21(3):169-177. doi: 10.1007/s10048-020-00608-3. Epub 2020 Mar 28.
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.
遗传性痉挛性截瘫（HSP）是一组罕见的神经退行性疾病，其特征为进行性痉挛性截瘫。最近发现 UBAP1 可引起一种罕见的 HSP 类型（SPG80）。我们鉴定了一个家系，该家系中有 8 名遗传性痉挛性截瘫患者携带 UBAP1 的新型杂合突变 c.279delG（p.S94Vfs*9）。我们证明这些患者缺乏功能性 UBAP1，导致 ESCRT 途径中断引起的神经病变。从该家系中发现的较晚发病年龄扩展，我们发现与欧洲和其他人群相比，亚洲患者的严重患者比例较低，发病平均年龄较大。SPG80 患者的发病年龄和疾病严重程度有关，而发病年龄与疾病严重程度无关。
