What is CLN2?
CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia).
How many people have CLN1?
The incidence of CLN1 disease is unknown; more than 200 cases have been described in the scientific literature. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.
Can Batten disease be cured?
There is no cure for these disorders but a treatment for one of the forms (CLN2 disease) has been approved by the U.S. Food and Drug Administration (see Treatment section). Children with all forms of Batten disease have a greatly shortened life expectancy.
Is neuronal ceroid lipofuscinosis inherited?
Neuronal ceroid lipofuscinoses (NCL) refers to a group of rare disorders of the nerve cells. NCL is passed down through families (inherited).
Why is Batten disease fatal?
The disorder affects the cells’ ability to break down and get rid of cellular waste. The body can’t dispose of proteins, sugars and lipids (fats), so they build up. This buildup causes problems with the nervous system that eventually leads to death. There is no cure for Batten disease.
How do you get Batten disease?
Batten disease is caused when both copies (one from each parent) of the specific gene causing the disease are defective. This is known as autosomal recessive disease. People who only have one defective copy (carriers) will not develop symptoms and are usually unaware of their carrier condition.
What are the signs of Batten disease?
The first signs of Batten disease include:
- Vision loss (this symptom does not affect adults with Batten disease).
- Epilepsy (seizures).
- Cognitive problems, trouble learning or difficulty keeping up in school.
- Problems with speaking.
- Clumsiness and issues with coordination, balance and movement.
How long can you live with Batten disease?
Children with Batten disease have a greatly shortened life expectancy. Children with infantile Batten disease often die in early childhood. Children with later onset forms of the disease may live into their teens to thirties, while those who develop the disease in adulthood may have a normal life expectancy.
What are the first symptoms of Batten disease?
Which is the best Antibody to detect Cln2?
CLN2 Antibody (G-3) is a high quality monoclonal CLN2 antibody (also designated CLN2 antibody) suitable for the detection of the CLN2 protein of mouse, rat and human origin.
Where does Cln2 disease occur in the body?
CLN2 disease, like other NCLs, is characterized by the accumulation of proteins or peptides and other substances in lysosomes. These accumulations occur in cells throughout the body; however, nerve cells seem to be particularly vulnerable to their effects. The accumulations can cause cell damage leading to cell death.
What are the effects of CLN2 in children?
Children with CLN2 may experience speech delay, seizures that do not respond to medications, loss of muscle coordination ( ataxia ), muscle twitches (myoclonus), loss of vision, developmental delay, and intellectual disability. Symptoms of CLN2 worsen as the child gets older (progressive). [1] [2] [3]
When does neuronal ceroid lipofuscinosis 2 ( CLN2 ) develop?
Summary Summary. Neuronal ceroid lipofuscinosis 2 (CLN2) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Symptoms of the CLN2 generally develop between ages two and four years, although later onset cases have been reported.