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Article

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses.

Developmental medicine and child neurology - 1 Feb 2026

Simonati Alessandro, Pezzini Francesco, Nardocci Nardo, Santorelli Filippo M

Abstract excerpt

AIM: To address disease progression in a cohort of patients with childhood-onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. METHOD: In this retrospective study, selected clinical features (age at onset, at death, and disease duration) and pathogenicity of individual genotypes were selected and matched from the database of the Italian network of NCLs. A...

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Identifiers

PMID: 40708162
DOI: 10.1111/dmcn.16416
PMCID: PMC12766547

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