Neuronal Ceroid Lipofuscinosis 2 in Dogs

Breeds documented
1
Published sources
6

Overview

One early-onset form of neuronal ceroid lipofuscinosis, NCL2, is caused by a change in the TPP1 gene. It affects a cell enzyme involved in breaking down material inside cells. Abnormal storage material accumulates, and the brain and eyes become progressively damaged. Affected puppies can develop vision loss, tremors, poor coordination, and difficulty with learned tasks. The disease progresses rapidly and can severely shorten life.

Signs to watch for

  • Increasing difficulty seeing
  • Trembling of the head
  • Sudden brief muscle jerks
  • Unsteady walking and loss of coordination
  • Declining ability to learn or respond to familiar tasks
  • Seizures later in the disease

Signs begin during puppyhood and become increasingly severe.

When to get help Book a veterinary visit soon for new tremors, unsteadiness, or apparent vision problems.

Diagnosis and tests

A vet assesses neurological signs and vision changes before selecting tests. DNA testing looks for the known TPP1 variant associated with NCL2. Brain imaging and microscopic examination of tissue can provide supporting evidence. A test for one genetic form does not exclude every other cause of similar signs.

Breeds with documented risk

1 breed

By breed size
  • 1 Small

Inheritance

  • Not yet known

    None of the sources we use states how this is inherited in dogs yet.

We've gathered what published sources say about this condition, so you can talk it through with your vet. It isn't veterinary advice: you and your vet know your dog best.

Sources

  1. cvm.missouri.edu
  2. pmc.ncbi.nlm.nih.gov
  3. pubmed.ncbi.nlm.nih.gov
  4. mdpi.com
  5. merckvetmanual.com
  6. Dachshund: omia.org