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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Neuropediatrics - 1 Apr 2018

Varvagiannis K, Hanquinet S, Billieux M H, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin J L, Antonarakis S E, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S

Abstract excerpt

Neuronal ceroid lipofuscinoses represent a heterogeneous group of early onset neurodegenerative disorders that are characterized by progressive cognitive and motor function decline, visual loss, and epilepsy. The age of onset has been historically used for the phenotypic classification of this group of disorders, but their molecular genetic delineation has now enabled a better characterization, demonstrating...

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PMID: 29284168
DOI: 10.1055/s-0037-1613681

Genes

CTSD

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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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