History of CLN5, a Subtype of Batten Disease

History of Batten DiseaseBatten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan.

Batten disease, a common name for a rare class of diseases called neuronal ceroid lipofuscinoses (NCLs)Refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy., was first described in 1903 by British neurologist and pediatrician Frederick Batten.

Today, there are 13 known subtypes of Batten disease. Symptoms and disease management for each subtype of Batten disease vary, although several subtypes share similar features and symptoms. Batten disease originally referred specifically to the juvenile-onset type of NCL, but now has been used more generally to describe all types of NCLs. Batten disease affects an estimated 2-4 out of every 100,000 children in the United States.

History of CLN5 (Neuronal Ceroid Lipofuscinosis 5)
Neuronal Ceroid Lipofuscinosis 5, CLN5, was first reported in 1991. It is an inherited neurological disease that affects both motor and sensory nerves. To date, more than 85 known cases of CLN5 exist in scientific literature.

CLN5 affects children globally, across ethnicities and races, and was first diagnosed in the Finnish population.

CLN4 and CLN9 genes have still not been identified.

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