NCL

Neuronal Ceroid Lipofuscinosis

Name: Neuronal Ceroid Lipofuscinosis 12 (NCL12)
Gene Location: ATP13A2
Chromosome: 2
Mutation: c.1620delG
Symptom Complex: Neurological
Inheritance: Autosomal recessive
Test type: Direct mutation test
Typical onset age: ~6 years

Note: these information are only valid for Tibetan Terriers.




General Information

NCL is a neurodegenerative disease, caused by lysosomal storage dysfunction. The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.
Clinical features
  • Progressive Motor Decline (Ataxia):
    Affected dogs exhibit a gradual loss of coordinated muscle movement, stumbling, limb stiffness, and difficulty navigating stairs or jumping, which worsens over time.
  • Behavioral Changes & Cognitive Decline:
    Signs include increased anxiety, noise sensitivity, persistent vocalization, and reduced ability to recognize or respond to previously learned commands.
  • Seizures/Convulsions:
    Epilepsy is a common feature, ranging from mild to severe, often emerging as the disease progresses.
  • Visual Impairment:
    Vision loss occurs in both bright and dim light conditions.
  • Rapid Progression:
    The disease is severe and progressive, with a limited lifespan (rarely over two years) after the onset of symptoms.
  • Other symptoms:
    Noise sensitivity, altered appetite (ranging from poor to ravenous), persistent vocalization, and eventually the inability to stand.
  • Pathology:
    The disease is caused by a lysosomal storage failure, specifically within the brain, leading to accumulation of lipopigments.
Studies indicate (in tibetan terriers) a similarly late onset, with first visible signs usually appearing between 5–7 years of age.

Please note that symptoms and age-frames may also be of other types and may differ from those mentioned above.
Morbidity
CLEAR / N/N Pet Pursuit CLEAR / N/N = Dogs with N/N genotype will not have this variant of primary lens luxation. In most cases heterozygous carriers are healthy.
CARRIER / N/NCL Pet Pursuit CARRIER / N/NCL = Dogs with N/NCL genotype are generally clinically healthy and do not develop the disease.
AFFECTED / NCL/NCL Pet Pursuit AFFECTED / NCL/NCL = Dogs with NCL/NCL dogs appear normal at birth, but begin to exhibit clinical effects later. Symptoms often appear between 4 and 6 years of age. These dogs usually die between 7 and 10 years of age. The age of onset and severity of the disease can vary greatly among individuals.
PLL
PLL
PLL
PLL
PLL






Inheritance
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