CLN4 Batten Disease at a Glance
The following table summarizes the key facts about CLN4 Batten disease, based on information from the National Library of Medicine.
| Quick Facts | CLN4 Batten Disease |
|---|---|
| Also called | Adult neuronal ceroid lipofuscinosis, autosomal dominant Kufs disease, Parry disease, CLN4B |
| Disease group | Neuronal ceroid lipofuscinoses (NCLs), known together as Batten disease |
| Gene | DNAJC5 |
| Inheritance | Autosomal dominant: one altered copy of the gene is enough to cause it |
| Typical onset | Around age 30, but anytime from adolescence to late adulthood |
| How common | Exact numbers unknown. All forms of NCL together affect about 1 in 100,000 people worldwide. |
| Treatment | None approved. Individualized therapies are in development. |
About CLN4 Batten Disease
How CLN4 Differs From Childhood Batten Disease
Most people know Batten disease as a childhood illness. CLN4 is different in three ways:
- It begins in adulthood, often while people are working and raising families.
- It can pass directly from parent to child. It is the only form of Batten disease inherited in a dominant pattern. Learn how CLN4 is inherited.
- Vision is usually spared. Progressive vision loss, a hallmark of childhood forms, is not typical of CLN4.
Because CLN4 often starts with seizures in otherwise healthy adults, it can be mistaken for adult-onset epilepsy.
Common Symptoms of CLN4
- Seizures and sudden muscle jerks (myoclonic epilepsy)
- Gradual decline in memory and thinking (dementia)
- Problems with balance and coordination (ataxia)
- Tremors and other involuntary movements
- Slurred or difficult speech (dysarthria)
These symptoms progress over a period of years. Read more about CLN4 symptoms and progression.
What Causes CLN4?
CLN4 is caused by changes in the DNAJC5 gene. This gene makes a protein called cysteine string protein alpha (CSPα), which helps nerve cells communicate. It does this by refolding misshapen proteins so they can be reused.
When CSPα doesn’t work properly, communication between nerve cells breaks down. As in other forms of Batten disease, waste material also builds up inside cells, and nerve cells gradually die.
Is There a Treatment for CLN4?
Not yet. Current care focuses on managing symptoms, such as controlling seizures.
Because CLN4 is caused by a single gene, researchers can design therapies that target it directly. One approach, an individualized antisense oligonucleotide (ASO) therapy, is being prepared for a clinical trial at Mass General Brigham. Hope 4 Batten Foundation will help fund this work. See our research approach.
Frequently Asked Questions About CLN4
Is CLN4 the same as Kufs disease?
Kufs disease is an older name for adult-onset Batten disease in general. CLN4 is the dominant form caused by DNAJC5. Other adult forms are caused by different genes.
Can someone have CLN4 with no family history?
Yes. Some cases come from a new genetic change that was not inherited from either parent.
How is CLN4 diagnosed?
Genetic testing that finds a DNAJC5 variant confirms the diagnosis. Some variants are missed by standard sequencing. If CLN4 is strongly suspected but testing is negative, ask about more specialized testing.
Learn More or Get Involved
CLN4 has affected two generations of one family. Read our story, or support CLN4 research.
This page is general information, not medical advice. Always talk with a neurologist or genetic counselor about your situation.
