Genetic and clinical characterization of SPG10: a case series of novel pathogenic variants and phenotypic diversity
This is the first documented case series of SPG10 associated with a novel KIF5A variant in Greece. It underscores the importance of genetic testing for accurate diagnosis and highlights the need for continued research into SPG10 pathophysiology and targeted treatments.
Authors
- Georgia Karadima (ORCID: https://orcid.org/0000-0001-7003-5717)
- Abdallah N. Mansour (ORCID: https://orcid.org/0000-0001-8882-751X)
- Georgios Koutsis (ORCID: https://orcid.org/0000-0002-8980-8377)
- Shadi Salloum
Institutions
- Latakia University (SY)
- Harvard University (US)
- National and Kapodistrian University of Athens (GR)
- Eginition Hospital (GR)
Publication Details
- Journal
- Annals of Medicine and Surgery
- Published
- 2025-10-07
- DOI
- https://doi.org/10.1097/ms9.0000000000004014
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00