Late-onset hereditary spastic paraplegia associated with a genetic variant in interferon induced with helicase c domain 1 (IFIH1) gene

Learning points for cliniciansThis study reported a late-onset hereditary spastic paraplegia (HSP) patients with a novel interferon induced with helicase c domain 1 (IFIH1) variant (c.2161G>T/p.G721X).The case may be the first late-onset HSP caused by IFIH1 variants.Our findings extended the spectrum of characterized pathogenic variants in IFIH1, provided new evidence for the link between IFIH1 and HSP.