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Charlotte & Gwenyth Gray Foundation to Cure Batten Disease



Address

6033 West Century Blvd Suite 350
Los Angeles, CA 90045 USA


Description

Batten disease is a rare genetically inherited disorder which belongs to a group of progressive degenerative neurometabolic disorders, known as the neuronal ceroid lipofuscinoses (NCLs). NCLs are characterized by genetic mutations which disrupt cells’ ability to dispose of wastes, resulting in the abnormal accumulation of certain proteins and lipids within the nerve cells of the brain and other tissues of the body, resulting in progressive neurological impairment including developmental regression, seizures, blindness, behavior changes and dementia. There are many forms of NCL. Mutations in at least eight different genes are known to cause Batten disease. The foundation currently focuses on Late Infantile Batten disease caused by mutation(s) in the CLN6 gene. This particular variant is extremely rare and the disease course can differ significantly among cases, making it difficult to predict.


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