A Novel Frameshift Variant in the SPAST Gene Causing Hereditary Spastic Paraplegia in a Bulgarian–Turkish Family
This novel SPAST frameshift variant expands the mutational spectrum of SPG4-HSP and highlights the importance of including isolated or minority communities in genomic research to improve variant interpretation.
Authors
- Mihael Tsalta-Mladenov (ORCID: https://orcid.org/0000-0001-9898-3962)
- Ara Kaprelyan (ORCID: https://orcid.org/0000-0003-3929-7959)
- Mariya Levkova (ORCID: https://orcid.org/0000-0002-9358-7263)
Institutions
- Medical University of Varna (BG)
- University Hospital St. Marina (BG)
Publication Details
- Journal
- Neurology International
- Published
- 2025-10-11
- DOI
- https://doi.org/10.3390/neurolint17100167
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission