Genetic Variants Associated With Neurodegenerative Disorders in Patients With Amyotrophic Lateral Sclerosis and Phenotypic Variability
Rare variants in genes associated with other neurodegenerative disorders influence both ALS susceptibility and clinical features, highlighting genetic pleiotropy across neurodegenerative diseases. Our findings support a model in which ALS arises from a complex and heterogeneous genetic landscape involving multiple variants, often shared with other neurodegenerative conditions, that shape disease expression. Although these findings suggest potential future expansion of genetic screening beyond classical ALS genes, such variants should be interpreted cautiously in clinical practice pending further functional validation.
Authors
- Paolina Salamone (ORCID: https://orcid.org/0000-0001-9038-7816)
- Antonio Canosa (ORCID: https://orcid.org/0000-0001-5876-4079)
- Gabriele Mora (ORCID: https://orcid.org/0000-0002-8388-2373)
- Salvatore Gallone (ORCID: https://orcid.org/0000-0002-3156-4613)
- Giovanni De Marco (ORCID: https://orcid.org/0000-0002-3966-8695)
- Andrea Calvo (ORCID: https://orcid.org/0000-0002-5122-7243)
- Giuseppe Fuda (ORCID: https://orcid.org/0000-0002-2216-1628)
- Umberto Manera (ORCID: https://orcid.org/0000-0002-9995-8133)
- Emanuele Koumantakis (ORCID: https://orcid.org/0000-0001-6994-8375)
- Giulia Marchese
- Maurizio Grassano (ORCID: https://orcid.org/0000-0001-6714-6897)
- Barbara Iazzolino (ORCID: https://orcid.org/0000-0001-5748-9175)
- Rosario Vasta (ORCID: https://orcid.org/0000-0002-0393-4736)
- Francesca Palumbo (ORCID: https://orcid.org/0000-0002-7070-2409)
- Cristina Moglia (ORCID: https://orcid.org/0000-0001-7377-7222)
- Adriano Chiò (ORCID: https://orcid.org/0000-0001-9579-5341)
- Maura Brunetti (ORCID: https://orcid.org/0000-0001-9547-904X)
- Federico Casale (ORCID: https://orcid.org/0000-0002-1097-1279)
- Marcella Testa
- Ilaria Merulla
- Claudia Paolantonio
Institutions
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Neuroscience Institute (IT)
- Institute of Cognitive Sciences and Technologies (IT)
- University of Turin (IT)
Publication Details
- Journal
- Neurology
- Published
- 2025-09-25
- DOI
- https://doi.org/10.1212/wnl.0000000000214180
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- American Brain Foundation
- EU Joint Programme – Neurodegenerative Disease Research
- European Commission
- Ministero della Salute
- Ministero dell’Istruzione, dell’Università e della Ricerca