Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses
The age of onset is a good indicator of the expected lifespan of a child with NCL. The ACMG classes of variant partly foresee the outcome of NCL phenotypes.
Authors
- Francesco Pezzini (ORCID: https://orcid.org/0000-0003-1590-4558)
- Alessandro Simonati (ORCID: https://orcid.org/0000-0001-6908-5418)
- Nardo Nardocci (ORCID: https://orcid.org/0000-0001-5863-5592)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
Institutions
- University of Verona (IT)
- Fondazione Stella Maris (IT)
- The Neurological Institute (US)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Publication Details
- Journal
- Developmental Medicine & Child Neurology
- Published
- 2025-07-24
- DOI
- https://doi.org/10.1111/dmcn.16416
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.33
Funders
- Ministero della Salute
- Fondazione Pierfranco e Luisa Mariani
- Regione Toscana
- Ministero dell'Università e della Ricerca