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Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

María-Socorro MS Pérez-Poyato, Montserrat M Milà Recansens, Isidre I Ferrer Abizanda, Raquel R Montero Sánchez, Laia L Rodríguez-Revenga, Victoria V Cusí Sánchez, M Mar MM García González, Rosario R Domingo Jiménez, Rafael R Camino León, Ramón R Velázquez Fragua, Antonio A Martínez-Bermejo, and Mercè M Pineda Marfà

J Inherit Metab Dis 34(5):1083-93 (2011) PMID 21499717

Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecular studies in 24 patients with JNCL collected from 1975 to 2010 with the aim of assessing the natural history of the disorder and phenotype/genotype correlations.

DOI: 10.1007/s10545-011-9323-7
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