Neuropsychological disorders in neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis (NCL) is a group of hereditary neurometabolic diseases isolated from the group of «amaurotic familial idiocy» in 1969. The morphological marker of NCL is the accumulation of lipofuscin in the brain and other tissues. NCLs are the most common group of childhood neurodegenerative diseases and one of the main causes of childhood dementia in the world. The most common clinical signs of NCL are decreased vision, progressive impairment of intellectual and motor development and epileptic seizures. Neuropsychological disorders in NCL are characterized by a decrease in cognitive abilities, primarily speech, as well as emotional and behavioral problems, including anxiety, depressive mood, outbursts of aggressive behavior and psychotic manifestations. Early clinical diagnosis of NCL with subsequent molecular genetic confirmation has become especially relevant in recent years due to the emergence of specific therapy for some forms of NCL.