CLN3 DiseaseSymptoms, Doctors, Treatments, Advances & More
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.
Zhongjian Zhang practices practicing medicine in Xinxiang, China. Zhang is rated as an Elite expert by MediFind in the treatment of CLN3 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 CLN3 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 CLN3 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.
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 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: February 16, 2021
Published By: National Institutes of Health