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Article

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

Journal of neurology - 1 Oct 2002

Mazzei Rosalucia, Conforti Francesca L, Magariello Angela, Bravaccio Carmela, Militerni Roberto, Gabriele Anna L, Sampaolo Simone, Patitucci Alessandra, Di Iorio Giuseppe, Muglia Maria, Quattrone Aldo

Abstract excerpt

We describe the clinical, neuropathological and molecular findings from a patient affected with neuronal ceroid lipofuscinosis with a juvenile onset (JNCL). She was a 9-year-old right-handed girl with a normal birth and early developmental milestones. At the age of 4 the early symptoms began. Skin biopsy showed granular osmiophilic deposits (GRODs). Because JNCL with GRODs is caused by mutations in the CNL1 gene,...

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Identifiers

PMID: 12382155
DOI: 10.1007/s00415-002-0849-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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