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.
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 CLN4 Disease, CLN5 Disease, CLN3 Disease, and CLN1 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, Batten Disease, CLN1 Disease, and CLN4 Disease.
Alessandro Simonati practices practicing medicine in Verona, Italy. Mr. Simonati is rated as an Elite expert by MediFind in the treatment of CLN4 Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses CLN1 Disease, CLN4 Disease, CLN3 Disease, and CLN5 Disease.
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Summary: The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on the...
Published Date: August 01, 2020
Published By: National Institutes of Health