title: GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.
abstract: A five-month-old, female Japanese domestic shorthair cat with proportionate dwarfism developed neurological disorders, including ataxia, decreased postural responses and generalised body and head tremors, at between two and five months of age. Leucocytosis due to lymphocytosis with abnormal cytoplasmic vacuolations was observed. The concentration of G(M2)-ganglioside in its cerebrospinal fluid was markedly higher than in normal cats, and the activities of beta-hexosaminidases A and B in its leucocytes were markedly reduced. On the basis of these biochemical data, the cat was diagnosed antemortem with G(M2)-gangliosidosis variant 0 (Sandhoff-like disease). The neurological signs became more severe and the cat died at 10 months of age. Histopathologically, neurons throughout the central nervous system were distended, and an ultrastructural study revealed membranous cytoplasmic bodies in these distended neurons. The compound which accumulated in the brain was identified as G(M2)-ganglioside, confirming G(M2)-gangliosidosis. A family study revealed that there were probable heterozygous carriers in which the activities of leucocyte beta-hexosaminidases A and B were less than half the normal value. The Sandhoff-like disease observed in this family of Japanese domestic cats is the first occurrence reported in Japan.
authors.affiliation: Laboratory of Internal Medicine, Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo 060-0818, Japan.
authors.forename: O
authors.initials: O
authors.lastname: Yamato
authors.forename: S
authors.initials: S
authors.lastname: Matsunaga
authors.forename: K
authors.initials: K
authors.lastname: Takata
authors.forename: K
authors.initials: K
authors.lastname: Uetsuka
authors.forename: H
authors.initials: H
authors.lastname: Satoh
authors.forename: T
authors.initials: T
authors.lastname: Shoda
authors.forename: Y
authors.initials: Y
authors.lastname: Baba
authors.forename: A
authors.initials: A
authors.lastname: Yasoshima
authors.forename: K
authors.initials: K
authors.lastname: Kato
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Yamasaki
authors.forename: H
authors.initials: H
authors.lastname: Nakayama
authors.forename: K
authors.initials: K
authors.lastname: Doi
authors.forename: Y
authors.initials: Y
authors.lastname: Maede
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
mesh_terms: D000818:Animals; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats; D005260:Female; D005678:G(M2) Ganglioside / Q000032:analysis / Q000134:cerebrospinal fluid; D020143:Gangliosidoses, GM2 / Q000235:genetics / Q000662:veterinary*; D005838:Genotype; D006579:Heterozygote; D007564:Japan; D008297:Male; D010375:Pedigree; D012497:Sandhoff Disease / Q000662:veterinary
chemical_list: D005678:G(M2) Ganglioside