GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles.

BACKGROUND: GM2 gangliosidosis variant 0 (human Sandhoff disease) is a lysosomal storage disorder caused by deficiencies of acid ß-hexosaminidase (Hex) A and Hex B because of an abnormality of the ß-subunit, a common component in these enzyme molecules, which is coded by the HEXB gene. OBJECTIVE: To describe the clinical, pathological, biochemical, and magnetic resonance imaging (MRI) findings of Sandhoff-like disease identified in a family of Toy Poodles. ANIMALS: Three red-haired Toy Poodles demonstrated clinical signs including motor disorders and tremor starting between 9 and 12 months of age. The animals finally died of neurological deterioration between 18 and 23 months of age. There were some lymphocytes with abnormal cytoplasmic vacuoles detected. METHODS: Observational case study. RESULTS: The common MRI finding was diffuse T2-hyperintensity of the subcortical white matter in the cerebrum. Bilateral T2-hyperintensity and T1-hypointensity in the nucleus caudatus, and atrophic findings of the cerebrum and cerebellum, were observed in a dog in the late stage. Histopathologically, swollen neurons with pale to eosinophilic granular materials in the cytoplasm were observed throughout the central nervous system. Biochemically, GM2 ganglioside had accumulated in the brain, and Hex A and Hex B were deficient in the brain and liver. Pedigree analysis demonstrated that the 3 affected dogs were from the same family line. CONCLUSIONS AND CLINICAL IMPORTANCE: The Sandhoff-like disease observed in this family of Toy Poodles is the 2nd occurrence of the canine form of this disease and the 1st report of its identification in a family of dogs.