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Article

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

Journal of inherited metabolic disease - 1 Oct 2011

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

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 21499717
DOI: 10.1007/s10545-011-9323-7

Genes

CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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