Neuronal Ceroid Lipofuscinosis NCL (Cane Corso Type)

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

PPT1

Variant Detected:

G>A Chr15:2860424

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the PPT1 gene will reliably determine if a dog is a genetic carrier of Neuronal Ceroid Lipofuscinosis NCL.

Research Citation(s):

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]

Associated Breed(s):

Cane Corso Italiano, Mixed Breed,