Article
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
2 Feb 2013
Abstract excerpt
BACKGROUND: To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations. METHODS: A cohort of NCL patients was recruited through CLNet, a nationwide network of child neurology units. Diagnosis was based on clinical and pathological criteria following ultrastructural...