title: Familial cerebellar ataxia with hydrocephalus in bull mastiffs.
abstract: Familial cerebellar ataxia with concurrent hydrocephalus has previously been described in a family of bull mastiff pups, and recently has been identified 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, there were symmetric hydrocephalus and two focal areas of increased signal intensity within the central nuclei of the cerebellum. Histopathologically there was vacuolization and mild astrogliosis within the deep cerebellar nuclei (dentate, interpositus, fastigial), caudal colliculi, and lateral vestibular nuclei. Although the postmortem results were not exactly the same as in the previously published report, the clinical features and histopathologic findings strongly support the diagnosis. This disorder is most likely inherited in an autosomal recessive manner.
authors.affiliation: Dept of Small Aminal Clinical Sciences, College of Veterinary Medicine, Louisiana State University, Baton Rouge 70803, USA.
authors.forename: R P
authors.initials: RP
authors.lastname: Johnson
authors.forename: T M
authors.initials: TM
authors.lastname: Neer
authors.forename: B P
authors.initials: BP
authors.lastname: Partington
authors.forename: D Y
authors.initials: DY
authors.lastname: Cho
authors.forename: C R
authors.initials: CR
authors.lastname: Partington
mesh_terms: D000818:Animals; D000831:Animals, Newborn; D001947:Breeding; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D003937:Diagnosis, Differential; D004283:Dog Diseases / Q000235:genetics / Q000473:pathology*; D004285:Dogs; D020022:Genetic Predisposition to Disease; D006849:Hydrocephalus / Q000150:complications / Q000473:pathology / Q000662:veterinary*; D008279:Magnetic Resonance Imaging / Q000662:veterinary