CLN3 Disease Overview
Learn About CLN3 Disease
CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.
CLN3 disease is caused by mutations in the CLN3 gene, which provides instructions for making a protein that is found in tissues throughout the body. The CLN3 protein is part of many compartments within cells, including lysosomes, which are cellular compartments that digest and recycle different types of molecules. However, the exact function of the CLN3 protein is unclear. Research has shown that this protein is involved in many cellular processes, but it is uncertain which of them is the primary role of the protein, or if these processes instead represent downstream effects.
CLN3 disease is the most common type of NCL, but its exact prevalence is unknown; more than 400 cases have been described in the scientific literature. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Angela Schulz practices in Hamburg, Germany. Schulz and is rated as an Elite expert by MediFind in the treatment of CLN3 Disease. Her top areas of expertise are CLN2 Disease, Batten Disease, CLN4 Disease, CLN3 Disease, and Orchiectomy.
Sara Mole practices in London, United Kingdom. Mole and is rated as an Elite expert by MediFind in the treatment of CLN3 Disease. Her top areas of expertise are CLN2 Disease, CLN4 Disease, CLN1 Disease, and CLN3 Disease.
Paul Gissen practices in London, United Kingdom. Gissen and is rated as an Elite expert by MediFind in the treatment of CLN3 Disease. His top areas of expertise are Argininosuccinic Aciduria, CLN2 Disease, Batten Disease, CLN4 Disease, and Liver Transplant.
Summary: The goal is to create a solid and harmonious disease registry of patient affected by neuronal ceroid lipofuscinosis (NCLs) that facilitates the collection and management of patients' data over time encouraging the research and the development of future clinical trials. In-depth clinical phenotyping will develop significant clinical outcome measures that can be used in clinical trials and will allo...
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want ...
Published Date: February 16, 2021
Published By: National Institutes of Health