A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant

• DOI: 10.1038/s41439-025-00313-3
• Publication Date: 2025-06-02T10:05:36Z
• Authors: Shiroh Miura; Seria Suenaga; Hana Goto; Zhaonan Wang; Akane Makino; Luoming Fan; Kensuke Senzaki; Masayuki Ochi; Yasumasa Ohyagi; Hiroki Shibata
• Keywords: Hereditary Spastic Paraplegia; Nonsense

Abstract Spastic paraplegia (SPG)10 is an autosomal dominant SPG caused by kinesin family member 5A ( KIF5A ) gene variants. We describe a Japanese patient with whose deceased mother and maternal uncle also exhibited SPG. Exome analysis identified rare nonsense variant (NM_004984.4:c.2590C>T (p.Arg864Ter)) in the patient, regarded as pathogenic. As mRNA expression was significantly decreased compared that of healthy control, deemed causative