INVESTIGADORES
BISBAL Mariano
congresos y reuniones científicas
Título:
A Novel CLN8 Missense Mutation Underlies Variant Late Infantile Neuronal Ceroid Lipofuscinosis In South America
Autor/es:
PESAOLA F; CISMONDI IA; GUELBERT N; KOHAN R; CARABELOS MN; ALONSO G; PONS P; OLLER-RAMIREZ AM; BISBAL M,; NOHER DE HALAC I.
Lugar:
Córdoba
Reunión:
Conferencia; 14th International Conference on Neuronal Ceroid Lipofuscinoses (Batten Disease); 2014
Resumen:
Neuronal Ceroid Lipofuscinosis (NCL) is a group of inherited neurodegenerative diseases that may affect individuals of any age, characterized by accumulation of lipofuscin-like lipopigments in neurons and peripheral tissues. CLN8 is one of the 13 classified forms, caused by mutations in CLN8 gene and may present with 2 possible phenotypes: Epilepsy Progressive with Mental Retardation (EPMR) or variant Late Infantile (vLI). To date, neither both variants nor CLN8 mutations were described in Latin America. The change c.685C>G, p.Pro229Ala, was found in 2 individuals from Argentina and Mexico, however, it had not yet been validated as a mutation. In this work, we aim to analyze by molecular approaches the CLN8 gene in individuals suspected of CLN8 and validate the change c.685C>G and all eventually found DNA variations.