Familial cerebellar ataxia with hydrocephalus in bull mastiffs

Familial cerebellar ataxia with concurrent hydrocephalus has previously bee n described in a family of bull mastiff pups, and recently has been identif ied in a litter from Louisiana. The 4 affected pups had ataxia, hypermetria , conscious proprioceptive deficits, behavioral abnormalities, and a visual deficit. In magnetic resonance imaging of the brain of two of the pups, th ere were symmetric hydrocephalus and two focal areas of increased signal in tensity within the central nuclei of the cerebellum. Histopathologically th ere was vacuolization and mild astrogliosis within the deep cerebellar nucl ei (dentate, interpositus, fastigial), caudal colliculi, and lateral vestib ular nuclei. Although the postmortem results were not exactly the same as i n the previously published report, the clinical features and histopathologi c findings strongly support the diagnosis. This disorder is most likely inh erited in an autosomal recessive manner.