Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1

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 m...

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Bibliographic Details
Published in:Neurogenetics 2020-07, Vol.21 (3), p.169-177
Main Authors: 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
Format: Article
Language:English
Subjects:
Age
Biomedical and Life Sciences
Biomedicine
Hereditary spastic paraplegia
Human Genetics
Molecular Medicine
Mutation
Neurodegenerative diseases
Neurosciences
Original Article
Paralysis
Spasticity
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Summary: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.
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-020-00608-3