Learn About CLN5 Disease
CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement that might seem like clumsiness, and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, speech problems, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
CLN5 disease is caused by mutations in the CLN5 gene, which provides instructions for making a protein whose function is not well understood. After the CLN5 protein is produced, it is transported to cell compartments called lysosomes, which digest and recycle different types of molecules. Research suggests that the CLN5 protein may play a role in the process by which lysosomes break down or recycle damaged or unneeded proteins within the cell.
The incidence of CLN5 disease is unknown; more than 85 cases have been described in the scientific literature. CLN5 disease was originally thought to affect only the Finnish population because they were the first individuals to be diagnosed with the condition. However, research has since shown that CLN5 disease affects populations worldwide. NCLs, including CLN5 disease, are still most common in Finland, where approximately 1 in 12,500 individuals are affected. 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.
Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Elite provider by MediFind in the treatment of CLN5 Disease. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.
Angela Schulz practices in Hamburg, Germany. Ms. Schulz is rated as an Elite expert by MediFind in the treatment of CLN5 Disease. Her top areas of expertise are CLN2 Disease, Batten Disease, CLN1 Disease, and CLN5 Disease.
Zhongjian Zhang practices in Xinxiang, China. Zhang is rated as an Elite expert by MediFind in the treatment of CLN5 Disease. Their top areas of expertise are CLN4 Disease, CLN5 Disease, CLN3 Disease, and CLN1 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: This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.
Published Date: February 03, 2021
Published By: National Institutes of Health