1 results match your criteria: "Molecular Medicine-IRCCS Children Hospital Bambino Gesù-Piazza S. Onofrio[Affiliation]"
Article Synopsis
- Neuronal ceroid lipofuscinoses (NCLs) are rare genetic neurodegenerative disorders caused by the buildup of autofluorescent substances in the body, and there are at least nine different types based on symptoms and genetics.
- The CLN8 form was initially identified in Finnish patients with a specific mutation, but recent research has also linked CLN8 mutations to a Turkish variant of late infantile NCL.
- In a study of Italian patients with this Turkish variant, researchers discovered four new mutations in the CLN8 gene, expanding the understanding of its genetic diversity beyond the Finnish population.