CLN4 DiseaseSymptoms, Doctors, Treatments, Advances & More
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.
Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of CLN4 Disease. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.
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, Batten Disease, CLN1 Disease, and CLN4 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: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects.
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...
Published Date: August 01, 2020
Published By: National Institutes of Health