Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia
This study expands the spectrum of ALDH18A1-associated HSP, highlighting a novel mutation with a relatively late-onset and mild clinical phenotype. Further functional studies and longitudinal assessments are needed to confirm the pathogenicity of this variant and its potential implications for disease progression and therapeutic strategies.
Authors
- Alessandra Tessa (ORCID: https://orcid.org/0000-0002-1445-6434)
- Federica Novarella
- Chiara Criscuolo (ORCID: https://orcid.org/0000-0003-0087-2397)
- Daniela Terracciano (ORCID: https://orcid.org/0000-0003-4296-429X)
- Rosanna Trovato (ORCID: https://orcid.org/0000-0001-5990-5590)
- Fabrizia Falco (ORCID: https://orcid.org/0000-0002-4585-1867)
- Marianna Caterino (ORCID: https://orcid.org/0000-0001-8228-0963)
- Margherita Ruoppolo (ORCID: https://orcid.org/0000-0002-7364-0602)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Sirio Cocozza (ORCID: https://orcid.org/0000-0002-0300-5160)
- Gianmaria Senerchia (ORCID: https://orcid.org/0009-0001-1386-1411)
- Marcello Moccia (ORCID: https://orcid.org/0000-0003-2613-3090)
- Valerio Nicolella (ORCID: https://orcid.org/0009-0009-0756-9877)
- Vincenzo Brescia Morra (ORCID: https://orcid.org/0000-0003-0462-9618)
- Giuseppe Castaldo
- Alessandra Scaravilli
Institutions
- Federico II University Hospital (IT)
- Fondazione Stella Maris (IT)
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- University of Naples Federico II (IT)
Publication Details
- Journal
- Journal of Neurology
- Published
- 2025-12-04
- DOI
- https://doi.org/10.1007/s00415-025-13444-y
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute