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Article

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2006

Bonsignore Maria, Tessa Alessandra, Di Rosa Gabriella, Piemonte Fiorella, Dionisi-Vici Carlo, Simonati Alessandro, Calamoneri Filippo, Tortorella Gaetano, Santorelli Filippo M

Abstract excerpt

We detected a novel CLN1 mutation (c.125-15t>g) in two Italian siblings. The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures. Ultrastructurally, granular osmiophilic deposits were found in skin biopsy of both patients. The novel mutation occurs in the acceptor sequences for splicing and leads to...

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PMID: 16759889
DOI: 10.1016/j.ejpn.2006.04.002

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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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