Neuronal ceroid lipofuscinosis, 1(NCL1)
Also known as: Neuronal ceroid lipofuscinosis type 1 · PPT1 deficiency · Ceroid-Lipofuszinose Typ 1 · Canine NCL 1 · PPT1-related Neuronal Ceroid Lipofuscinosis · …
Overview
What it is
Neuronal ceroid lipofuscinosis type 1 (NCL1) is an inherited metabolic disorder that affects the nervous system. It is classified as a lysosomal storage disease, which means the cells' internal recycling centers (lysosomes) cannot properly break down waste. This leads to a harmful buildup of cellular debris in the nerve cells of the brain and eyes, causing progressive damage.
How it presents
Symptoms typically become noticeable when a dog is between 1 and 2 years of age. Owners may observe progressive vision loss, changes in behavior, difficulty coordinating movements, and seizures.
Treatment
There is no cure for NCL1, and treatment focuses entirely on supportive, palliative care to keep the dog comfortable. Managing symptoms and maintaining quality of life typically costs between 1,000 and 4,000 EUR.
How it's tested
ECVO Augenuntersuchung (DOK)(ECVO-DOK)
Primary testEye examAugenuntersuchung durch ECVO-zertifizierten Augentierarzt (Dortmunder Kreis). Erkennt PRA, Katarakt, Entropium, CEA, MPP, RD u.a.
Issuing body: ECVO
Result scheme: Eye-ECVO
NCL1 DNA-Test(NCL1)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im PPT1-Gen, die für die neuronale Ceroid-Lipofuszinose Typ 1 verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
DNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
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, 1?
Neuronal ceroid lipofuscinosis type 1 (NCL1) is an inherited metabolic disorder that affects the nervous system. It is classified as a lysosomal storage disease, which means the cells' internal recycling centers (lysosomes) cannot properly break down waste. This leads to a harmful buildup of cellular debris in the nerve cells of the brain and eyes, causing progressive damage.
How is Neuronal ceroid lipofuscinosis, 1 tested?
Tests currently in our database: ECVO Augenuntersuchung (DOK), NCL1 DNA-Test, Labogen Komplettpaket (rassespezifisch), Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.