Kufs disease

Kufs disease, also called adult neuronal ceroid lipofuscinosis or ANCL, is a term for several rare inherited disorders in which fatty, granular pigments called ceroid and lipofuscin build up inside nerve cells of the brain and in other tissues. It belongs to the neuronal ceroid lipofuscinoses, a group of progressive, degenerative neurometabolic disorders, and is set apart by onset in adulthood, usually around the age of 30, although symptoms can begin in the teenage years or after the age of 50. The disease was historically divided into type A, associated with progressive myoclonic epilepsy, and type B, which often brings problems of movement and coordination, dementia and behavioral change, with seizures rare. Researchers now prefer to classify these disorders by the affected gene, for example CLN6 for type A and CTSF for type B. Most forms are inherited in an autosomal recessive manner, while the form caused by specific changes in the DNAJC5 gene, known as Parry disease, is autosomal dominant. No disease-specific treatment exists; care is directed at the symptoms each person has.