A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia. (May 2021)

• Record Type: Journal Article
• Authors: Ban, Rui; Pu, Chuanqiang; Fang, Fang; Shi, Qiang
• Is Part Of: Parkinsonism & related disorders. Volume 86(2021)
• Page Start: 58
• Page End: 60
• Publication Date: 2021-05
• Subjects: Pure hereditary spastic paraplegia -- ATP13A2 gene -- Novel mutation; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2021.03.020
• Languages: English
• ISSNs: 1353-8020

Abstract

Abstract: SPG78 is a subtype of hereditary spastic paraplegia(HSP) caused by ATP13A2 gene mutations. SPG78 was reported as complicated HSP in several cases, but was never associated with pure HSP. Here we report the first Chinese patient carrying a novel homozygous nonsense mutation in ATP13A2 presenting with pure HSP.