Amaurotic idiocy, Batten disease, NCL, NCL1
Neuronal Ceroid Lipofuscinosis 1 Cane Corso Type (NCL1-CC)
Neuronal Ceroid Lipofuscinosis 1 (NCL1) is a neurodegenerative disease in the Cane Corso breed caused by a dysfunction in lysosomal storage. An enzyme necessary to break down certain proteins in the cell does not function properly and results in the accumulation of compounds in the cell that affect normal brain and nervous system function. Symptoms of the disease can be seen as early as 8 months of age and can include increased levels of agitation or aggression, hyperactivity, epileptic attacks, and potential hallucinations. Affected dogs gradually lose their ability to coordinate movement. The disease can progress rapidly with increased neurodegeneration followed by psychological abnormalities and eventual loss of muscle control. Affected dogs are typically euthanized shortly after clinical signs appear.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Neuronal Ceroid Lipofuscinosis nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Neuronal Ceroid Lipofuscinosis but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are likely to develop Neuronal Ceroid Lipofuscinosis.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
PPT1
Chromosome
Ch. 15
Mutation
2860424: G>A
Publication:
Kolicheski A, Barnes Heller HL, Arnold S, Schnabel RD, Taylor JF, Knox CA,Mhlanga-Mutangadura T, O’Brien DP, Johnson GS, Dreyfus J, Katz ML. Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog with Neuronal Ceroid Lipofuscinosis. J Vet Intern Med. 2017 Jan;31(1):149-157. [PubMed: 28008682]
