Batten disease, or neuronal ceroid lipofuscinoses, are common neurodegenerative diseases of childhood. All forms of Batten disease are inherited. There are currently 14 different genes and over 360 mutations that underlie these devastating brain disorders. Typical clinical findings include retinopathy leading to blindness, sleep problems, motor abnormalities, myoclonic seizures, dementia, and premature death. Definitive diagnosis relies on enzymatic assays or DNA testing.
Jan. 19, 2020