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Article

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

European journal of neurology - 1 Apr 2007

Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen O P

Abstract excerpt

Accurate diagnosis, especially in progressive hereditary diseases, is essential for the treatment and genetic counseling of the patient and the family. Neuronal ceroid lipofuscinoses (NCL) are amongst the most common groups of neurodegenerative diseases. Infantile, juvenile, and adult-onset types...

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Identifiers

PMID: 17388982
DOI: 10.1111/j.1468-1331.2007.01668.x

Genes

NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17388982-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.PMID 17388982Read ↗

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Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.Semantic proximity Read ↗

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Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.Semantic proximity Read ↗

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.Semantic proximity Read ↗

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.Semantic proximity Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

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