Disease overview

The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal storage diseases. Lysosomes digest and remove waste from the cells, so when they malfunction, large molecules build up in cells and cause neurological issues. NCL1 affects Dachshunds and presents with juvenile onset signs.

Gene name

PPT1

Inheritance

Autosomal recessive

Signs and symptoms

Affected dogs will have neurologic signs as early as 9 months of age. Clinical signs include blindness, progressive behavioral changes, abnormal gait (ataxia), and seizures. This disease is slowly progressive.

How is it diagnosed

A veterinarian will conduct a thorough exam, as well as review health history and any clinical signs. However, clinical signs are typically non-specific, requiring further testing, such as advanced imaging and/or spinal taps. Genetic testing can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs. A definitive diagnosis of neuronal ceroid lipofuscinosis, however, is made post-mortem through necropsy of brain tissue.

Breeds at higher risk

, Italian Cane Corso

Citations

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. doi: 10.1111/jvim.14632. Epub 2016 Dec 23. PMID: 28008682; PMCID: PMC5259623.

Sanders DN, Farias FH, Johnson GS, Chiang V, Cook JR, O'Brien DP, Hofmann SL, Lu JY, Katz ML. A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund. Mol Genet Metab. 2010 Aug;100(4):349-56. doi: 10.1016/j.ymgme.2010.04.009. Epub 2010 Apr 24. PMID: 20494602; PMCID: PMC2930207.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.