What are the Clinical Implications of CSTB Gene Mutations?
Mutations in the CSTB gene can lead to a rare autosomal recessive disorder known as Unverricht-Lundborg disease, a form of progressive myoclonus epilepsy. This disorder is characterized by myoclonic seizures, ataxia, and cognitive decline. Histological examinations of brain tissue in affected individuals often reveal neuronal loss and gliosis, particularly in the cerebellum.
