Hepatocerebellar degeneration

From Dog

Hepatocerebellar degeneration is an autosomal-recessive genetic variant of cerebellar abiotrophy in the Bernese Mountain Dog where cerebellar degeneration is accompanied by a hepatic degeneration.

Clinical symptoms usually become evident at 6 - 8 weeks of age with characteristic sudden onset of cerebellar signs of ataxia, intention tremors, head bobbing, spontaneous nystagmus, ascites and paresis[1].

A presumptive diagnosis can be established on clinical history and breed predisposition. Blood tests usually reveal a normocytic, normochromic anemia, hypoproteinemia, low serum BUN, hyperammonemia and elevated serum bile acids. Portal venography performed on 1 dog revealed a small liver and extensive extrahepatic varicosities.

Histology of brain samples usually shows cerebellar hypoplasia and degeneration and depletion of Purkinje's cells. Liver pathology involves vacuolation, degeneration, and nodular regeneration of hepatic tissue.

Definitive diagnosis is difficult and there is no known treatment of this condition and most pups die within 6 months of age.


  1. Carmichael KP et al (1996) Clinical, hematologic, and biochemical features of a syndrome in Bernese Mountain Dogs characterized by hepatocerebellar degeneration. J Am Vet Med Assoc 208:1277–1279