Understand Tbce Disease: Genetic Origins, Impact, And Management
TBCE genetic disease, inherited in an autosomal recessive pattern, arises from mutations in the TBCE gene, leading to RNA splicing abnormalities. These mutations result in a specific type of neuronal ceroid lipofuscinosis (LINCL), characterized by progressive neurological deterioration, including cognitive decline, seizures, and motor dysfunction. Mutations in the TBCE gene affect protein folding, impacting cellular…