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- Title
Late-onset hereditary spastic paraplegia associated with a genetic variant in interferon induced with helicase c domain 1 (IFIH1) gene.
- Authors
Zhang, S -Y; Zhu, L; Fan, L -L; Xiang, R; Zeng, L; Jin, J -Y
- Abstract
Learning points for clinicians This study reported a late-onset hereditary spastic paraplegia (HSP) patients with a novel I interferon induced with helicase c domain 1 i ( I IFIH1 i ) variant (c.2161G>T/p.G721X). Introduction Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative diseases with the incidence of 2/100 000-5/100 000.[1] Most HSP patients exhibit weakness, spasticity, tendon hyper-reflexia and gait abnormality.
- Subjects
GENETIC variation; FAMILIAL spastic paraplegia; SPASTIC paralysis; MEDICAL personnel; INTERFERONS; MOTOR unit; PARAPLEGIA
- Publication
QJM: An International Journal of Medicine, 2023, Vol 116, Issue 7, p574
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad055