Learn About CLN5 Disease

What is the definition of 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.

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What are the causes of CLN5 Disease?

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.

How prevalent is CLN5 Disease?

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.

Is CLN5 Disease an inherited disorder?

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.

Who are the top CLN5 Disease Local Doctors?
Elite
Highly rated in
9
conditions
Neurology
Child Neurology

601 Elmwood Ave 
Rochester, NY 14642

Erika Augustine is a Neurologist and a Child Neurologist in Rochester, New York. Dr. Augustine has been practicing medicine for over 19 years and is rated as an Elite doctor by MediFind in the treatment of CLN5 Disease. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are CLN2 Disease, Neuronal Ceroid Lipofuscinoses, CLN4 Disease, and CLN3 Disease. She is licensed to treat patients in Massachusetts.

Elite
Highly rated in
19
conditions
Neurology
Child Neurology

University of Rochester Medical Center

601 Elmwood Ave 
Rochester, NY 14642

Jonathan Mink is a Neurologist and a Child Neurologist in Rochester, New York. Dr. Mink has been practicing medicine for over 33 years and is rated as an Elite doctor by MediFind in the treatment of CLN5 Disease. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are CLN2 Disease, Neuronal Ceroid Lipofuscinoses, CLN4 Disease, and CLN3 Disease. He is licensed to treat patients in New York. Dr. Mink is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
8
conditions

University Medical Center Hamburg Eppendorf

Hamburg, HH, DE 

Angela Schulz is in Hamburg, Germany. Schulz is rated as an Elite expert by MediFind in the treatment of CLN5 Disease. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are CLN2 Disease, CLN4 Disease, Neuronal Ceroid Lipofuscinoses, and CLN3 Disease.

What are the latest CLN5 Disease Clinical Trials?
An Open-label Safety, Pharmacokinetic, and Efficacy Study of the Combination of Miglustat for the Treatment of CLN3 Disease in Patients 17 Years of Age and Older
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A Randomized. Multicenter, Double-Blind, Placebo-Controlled Safety, Tolerability, and Efficacy Study of PLX-200 in Participants With Mild-to-Moderate Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Disease
Who are the sources who wrote this article ?

Published Date: February 03, 2021Published By: National Institutes of Health

What are the Latest Advances for CLN5 Disease?
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
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Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.