title: Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat.
abstract: This case report documents clinical and molecular findings in two littermate kittens of the Japanese domestic cat with GM2 gangliosidosis variant 0. Analysis included detailed physical, magnetic resonance imaging, biochemical, pathological and genetic examinations. At first, these littermate kittens showed typical cerebellar signs at approximately 2 months of age. About 2 months later, they progressively showed other neurological signs and subsequently died at about 7 months of age. Magnetic resonance imaging just before the death showed an enlarged ventricular system, T1 hyperintensity in the internal capsule, and T2 hyperintensity in the white matter of the whole brain. Histological findings suggested a type of lysosomal storage disease. Biochemical studies demonstrated that the kittens were affected with GM2 gangliosidosis variant 0, and a DNA assay finally demonstrated that these animals were homozygous for the mutation, which the authors had identified in a different family of the Japanese domestic cat. The findings in the present cases provide useful information about GM2 gangliosidosis variant 0 in Japanese domestic cats.
authors.affiliation: School of Veterinary Medicine, Nippon Veterinary and Life Science University, 1-7-1 Kyounan-chou, Musashino-shi, Tokyo 180-8602, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Hasegawa
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamato
authors.forename: Masanori
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Michio
authors.initials: M
authors.lastname: Fujita
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Nakamura
authors.forename: Kimimasa
authors.initials: K
authors.lastname: Takahashi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Satoh
authors.forename: Toru
authors.initials: T
authors.lastname: Shoda
authors.forename: Daisuke
authors.initials: D
authors.lastname: Hayashi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Yamasaki
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Maede
authors.forename: Toshiro
authors.initials: T
authors.lastname: Arai
authors.forename: Hiromitsu
authors.initials: H
authors.lastname: Orima
mesh_terms: D000818:Animals; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002371:Cat Diseases / Q000235:genetics* / Q000378:metabolism; D002415:Cats; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005678:G(M2) Ganglioside / Q000032:analysis / Q000134:cerebrospinal fluid*; D020143:Gangliosidoses, GM2 / Q000235:genetics / Q000378:metabolism / Q000662:veterinary*; D005838:Genotype; D006579:Heterozygote; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree; D012497:Sandhoff Disease / Q000662:veterinary
chemical_list: D005678:G(M2) Ganglioside