History of CLN7, a Subtype of Batten Disease
History of Batten 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 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 CLN7 (Neuronal Ceroid Lipofuscinosis 7)
CLN7 was first reported in 2004; to date, more than 70 known cases of CLN7 exist in the scientific literature. CLN7 affects children globally, across ethnicities and races, and was first diagnosed in the Turkish population.
CLN4 and CLN9 genes have still not been identified.
- Batten Disease Fact Sheet. (2019, June 24). Retrieved July 31, 2019, from link.
- CLN5 disease. (2019, July 16). Retrieved July 31, 2019, from link.
- Frederick Eustace Batten. (n.d.). Retrieved July 31, 2019, from link.
- Batten Disease Support and Research Association. (2000). Batten Disease Neuronal Ceroid Lipofuscinosis (Publication). Retrieved August 14, 2019, from link.
- CLN1 Disease, infantile onset and others. (n.d.). Retrieved August 14, 2019, from link.
- CLN10 disease, congenital, neonatal and late infantile. (n.d.). Retrieved August 14, 2019, from link.
- CLN2 Disease, Late Infantile. (n.d.). Retrieved August 14, 2019, from link.
- CLN8 Disease, EPMR and late infantile A variant is a change in DNA. A variant may or may not cause disease. The following modifiers describe the variant: (i) pathogenic, (ii) likely pathogenic, (iii) uncertain significance, (iv) likely benign, or (v) benign depending on whether or not the variant causes disease. For example, a “pathogenic variant” may cause disease. The term “variant” has replaced the term “mutation.”. (n.d.). Retrieved August 14, 2019, from link.
- McKusick, V. A. (1997, April 28). CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6. Retrieved August 14, 2019, from link.
- Types of Batten Disease. (n.d.). Retrieved August 14, 2019, from link.
- CLN7 disease. (2019, July 16). Retrieved July 31, 2019, from link.
- CLN7. (2010, February). Retrieved July 31, 2019, from link.
- CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7. (2016, December 8). Retrieved July 31, 2019, from link.