Pelizaeus-Merzbacker disease (shaking pup disease)

Disease overview

Pelizaeus-Merzbacker disease, also known as Shaking Puppy disease, is a group of conditions centered on defective neuronal axons. These compromised neurons create a delay of information relay between the brain and the body.

Gene name

PLP1

Inheritance

X-linked recessive

Signs and symptoms

Early-onset symptoms can include tremors, muscle weakness, and loss of limb control due to the delay between the brain and body.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests, including imaging, may be required for a definitive diagnosis. Genetic testing is necessary to determine an underlying genetic cause.

Breeds at higher risk

Springer Spaniel

Citations

Nadon NL, Duncan ID, Hudson LD. A point mutation in the proteolipid protein gene of the 'shaking pup' interrupts oligodendrocyte development. Development. 1990 Oct;110(2):529-37. doi: 10.1242/dev.110.2.529. PMID: 1723945.