CLN4 Disease Overview
Learn About CLN4 Disease
CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.
Mutations in the DNAJC5 gene cause CLN4 disease. The DNAJC5 gene provides instructions for making a protein called cysteine string protein alpha (CSPα). This protein is found in the brain, where it plays a role in the transmission of nerve impulses, helping nerve cells communicate with each other. Specifically, CSPα is involved in recycling certain proteins that are involved in nerve impulse transmission by refolding misshapen proteins so that they can be used in additional transmissions.
CLN4 disease is a rare disorder, but its prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Luca Bartolini is a Pediatric Neurologist in Providence, Rhode Island. Dr. Bartolini and is rated as an Experienced provider by MediFind in the treatment of CLN4 Disease. His top areas of expertise are Epilepsy, Genetic Epilepsy with Febrile Seizures Plus (GEFS+), Rasmussen Encephalitis, and Seizures.
Katherine Sims is a Neurologist in Boston, Massachusetts. Dr. Sims and is rated as a Distinguished provider by MediFind in the treatment of CLN4 Disease. Her top areas of expertise are Batten Disease, Fabry Disease, CLN2 Disease, and CLN4 Disease.
Yale University
Stephen Strittmatter is a Neurologist in New Haven, Connecticut. Dr. Strittmatter and is rated as an Experienced provider by MediFind in the treatment of CLN4 Disease. His top areas of expertise are Alzheimer's Disease, Dementia, Creutzfeldt-Jakob Disease, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease).
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: August 01, 2020
Published By: National Institutes of Health