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

ABSTRACT:

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 cohort of 152 children with molecularly diagnosed NCL were grouped by age at onset and subdivided according to the associated mutated gene. Clinical features were assessed by descriptive statistics and the significance level by non-parametric tests. The pathogenicity of patients' genotypes in each NCL form was categorized following the guidelines of the American College of

SUBMITTER: Simonati A 

PROVIDER: S-EPMC12766547 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature