Neuronal ceroid lipofuscinosis, 12(NCL12)
Also known as: Neuronal Ceroid Lipofuscinosis 12 · NCL 12 · ATP13A2-related NCL · Neuronal Ceroid Lipofuscinosis Australian Cattle Dog type · Ceroid-Lipofuszinose Typ 12 · …
Overview
What it is
Neuronal ceroid lipofuscinosis type 12 (NCL12) is a severe inherited metabolic disorder that affects the nervous system. It is caused by a genetic mutation that prevents cells from properly breaking down waste, leading to a harmful buildup of fatty pigments in the brain's nerve cells. This accumulation gradually damages and destroys these vital cells over time.
How it presents
Symptoms typically appear between 1.5 and 2 years of age, starting with coordination problems, tremors, behavioral changes, and vision loss. These signs rapidly progress to severe mental and physical decline.
Treatment
There is no cure for this condition, and treatment is limited to supportive care to manage symptoms and maintain comfort. Lifelong palliative care typically costs between 1,000 and 3,500 EUR before euthanasia becomes necessary.
How it's tested
NCL12 Gentest (Neuronale Ceroid-Lipofuszinose Typ 12)(NCL12)
Primary testDNA testDer Gentest analysiert die Mutation im ATP13A2-Gen, um betroffene Hunde, Träger und mutationsfreie Tiere sicher zu identifizieren.
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, 12?
Neuronal ceroid lipofuscinosis type 12 (NCL12) is a severe inherited metabolic disorder that affects the nervous system. It is caused by a genetic mutation that prevents cells from properly breaking down waste, leading to a harmful buildup of fatty pigments in the brain's nerve cells. This accumulation gradually damages and destroys these vital cells over time.
How is Neuronal ceroid lipofuscinosis, 12 tested?
Tests currently in our database: NCL12 Gentest (Neuronale Ceroid-Lipofuszinose Typ 12).
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.