Article
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.
Pediatric neurology - 1 May 2024
O'Neal Matthew, Noher de Halac Ines, Aylward Shawn C, Yildiz Vedat, Zapanta Bianca, Abreu Nicolas, de Los Reyes Emily
Abstract excerpt
BACKGROUND: Mutations in the CLN6 gene cause late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease of childhood onset. Clinically, individuals present with progressive motor and cognitive regression, ataxia, and early death. The aim of this study is to establish natural history data of individuals with classic, late-infantile-onset (age less than five years) CLN6 disease....
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