CLN4 DiseaseSymptoms, Doctors, Treatments, Advances & More
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.
Angela Schulz practices practicing medicine in Hamburg, Germany. Ms. Schulz is rated as an Elite expert by MediFind in the treatment of CLN4 Disease. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses CLN2 Disease, CLN1 Disease, CLN4 Disease, and CLN5 Disease.
Sara Mole practices practicing medicine in London, United Kingdom. Ms. Mole is rated as an Elite expert by MediFind in the treatment of CLN4 Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses CLN2 Disease, CLN1 Disease, CLN4 Disease, and CLN5 Disease.
Zhongjian Zhang practices practicing medicine in Xinxiang, China. Zhang is rated as an Elite expert by MediFind in the treatment of CLN4 Disease. They are also highly rated in 6 other conditions, according to our data. Their clinical expertise encompasses Batten Disease, CLN4 Disease, CLN5 Disease, and CLN3 Disease.
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 ...
Summary: The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn errors of metabolism and who have evidence of early demyelinating disease in the central nervous system (CNS). The secondary objective of the study is to describe the efficacy ...
Published Date: August 01, 2020
Published By: National Institutes of Health