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Clinical Symptoms in Late Infantile and Juvenile Onset Neuronal Ceroid Lipofuscinosis Type 7 (CLN7 Disease).

Pediatric neurology - 1 Sept 2026

Vermilion Jennifer, Vierhile Amy, Pereira-Frietas Marianna, Adams Heather R, Beausoleil Elise, Albanis Effie, Mink Jonathan W

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinosis type 7 (CLN7 disease) can present with late-infantile or juvenile onset phenotypes. Current understanding of disease progression is limited as most published data derive from case reports or case series. Our goal was to characterize clinical aspects of CLN7 disease across phenotypes. METHODS: Participants with CLN7 disease were enrolled in a longitudinal observational...

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Identifiers

PMID: 42398224
DOI: 10.1016/j.pediatrneurol.2026.06.005
PMCID: PMC13347300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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