Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A
<i>KIF1A</i> codes for a kinesin-3 motor protein involved in neuronal axon vesicular transport. <i>KIF1A</i> pathogenic variants are associated with several neurological phenotypes, most commonly HSP. The rare likely pathogenic variant (p.Arg316Gln) reported here was associated with an autosomal dominant HSP with few complications.
Authors
- Wafae Chouhani
- David K. Brodie‐Mends
- Lauren Massingham (ORCID: https://orcid.org/0000-0002-2497-1552)
- Saud Alhusaini (ORCID: https://orcid.org/0000-0002-6869-3830)
- Kathryn Sine
Institutions
- Brown University (US)
- Rhode Island Hospital (US)
Publication Details
- Journal
- Frontiers in Human Neuroscience
- Published
- 2025-05-19
- DOI
- https://doi.org/10.3389/fnhum.2025.1568511
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00