Neuronal ceroid lipofuscinosis, 2(NCL2)
Also known as: Neuronal Ceroid Lipofuscinosis Type 2 · Batten Disease Type 2 · TPP1 Deficiency · Neuronal Ceroid-Lipofuszinose Typ 2 · NCL 2
Overview
What it is
Neuronal ceroid lipofuscinosis type 2 (NCL2) is an inherited metabolic disorder affecting the nervous system. It is caused by a deficiency in a specific enzyme, which prevents the body from breaking down cellular waste products. These waste materials build up inside the cells of the brain and the retina, the light-sensitive tissue at the back of the eye, leading to progressive cell death and severe neurological damage.
How it presents
Owners typically notice symptoms between 1 and 2 years of age, starting with vision loss, uncoordinated movement, and changes in behavior. As the disease progresses, it leads to seizures, mental decline, and a significantly shortened lifespan.
Treatment
There is no cure for this fatal condition, so treatment focuses entirely on supportive and palliative care to keep the dog comfortable. Managing these symptoms over the dog's remaining life typically costs between €1,500 and €5,000.
How it's tested
NCL2 DNA-Test(NCL2)
Primary testDNA testEin molekularbiologischer Gentest (DNA-Test) zum Nachweis der ursächlichen Mutation im TPP1-Gen für die Neuronale Ceroid-Lipofuszinose Typ 2.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Neuronal ceroid lipofuscinosis, 2?
Neuronal ceroid lipofuscinosis type 2 (NCL2) is an inherited metabolic disorder affecting the nervous system. It is caused by a deficiency in a specific enzyme, which prevents the body from breaking down cellular waste products. These waste materials build up inside the cells of the brain and the retina, the light-sensitive tissue at the back of the eye, leading to progressive cell death and severe neurological damage.
How is Neuronal ceroid lipofuscinosis, 2 tested?
Tests currently in our database: NCL2 DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.