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Article

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

Pediatric neurology - 1 Apr 2009

Simonati Alessandro, Tessa Alessandra, Bernardina Bernardo Dalla, Biancheri Roberta, Veneselli Edvige, Tozzi Giulia, Bonsignore Maria, Grosso Salvatore, Piemonte Fiorella, Santorelli Filippo M

Abstract excerpt

The neuronal ceroid lipofuscinoses are a heterogeneous group of inherited degenerative disorders of the central nervous system. Cases of ceroid lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are associated with reduced activity of palmitoyl-protein thioesterase-1 (PPT-1) and mutations in CLN1, and occur from infancy to adulthood. We present clinical and diagnostic investigations in six...

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PMID: 19302939
DOI: 10.1016/j.pediatrneurol.2008.10.018

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

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