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Article

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

Developmental medicine and child neurology - 1 Aug 2017

Simonati Alessandro, Williams Ruth E, Nardocci Nardo, Laine Minna, Battini Roberta, Schulz Angela, Garavaglia Barbara, Moro Francesca, Pezzini Francesco, Santorelli Filippo M

Abstract excerpt

AIM: To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. METHOD: Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at...

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Identifiers

PMID: 28542837
DOI: 10.1111/dmcn.13473

Genes

CLN5
NCL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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