Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).

ABSTRACT:

Background

Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact on neural function appears mild relative to its effects on other organs during early disease, but since therapeutic advances have led to substantially increased life expectancy, neurological implications are of increasing interest, necessitating deeper understanding of the impact of cystinosis on neurocognitive function. Behavioral difficulties have been reported in cystinosis in the visual domain. Very little is known, however, about how the brains of people living with cystinosis process visual information. This is especially interesting given that cystine accumula

SUBMITTER: Horsthuis DJ 

PROVIDER: S-EPMC10714457 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature