Novel SPTAN1 variant mimicking hereditary spastic paraplegia (HSP)
An early adolescent girl child, with uneventful perinatal history, presented with progressive difficulty in walking and stiffness in the lower limbs during ambulation, noted since early infancy. Her symptoms have worsened over the past 2 years. Developmentally, she attained age-appropriate
Authors
- Vinod Lakhanpal (ORCID: https://orcid.org/0009-0001-2285-3333)
- Arvinder Wander (ORCID: https://orcid.org/0009-0002-4949-9706)
- A Roshwanth
- Balachandar Vellingiri
Institutions
- Central University of Punjab (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- BMJ Case Reports
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1136/bcr-2025-269507
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00