Inada S, Mochizuki M, Izumo S, Kuriyama M, Sakamoto H, Kawasaki Y, Osame M
Laboratories of Veterinary Physiology, Faculty of Agriculture, Kagoshima University, Korimoto, Japan.
Am J Vet Res. 1996 Mar;57(3):296-301.
To elucidate the nature of ataxia observed in 3 cats spanning 2 generations.
Experimental breeding was attempted to confirm heritability of the disease and establish the mode of inheritance; the original 3 cats and their offspring were studied.
Seven diseased cats spanning 3 generations and 11 neurologically normal cats.
Cats were examined by use of the following methods: clinical observation, hematologic and serum biochemical examinations, neurologic examination, electrodiagnostics, magnetic resonance imaging, lysosomal enzyme activity assay, horizontal transmission test, and virologic and pathologic examinations.
All kittens (1 male and 3 females) obtained by backcrosses developed pure cerebellar dysfunction from the age of 7 to 8 weeks onward. It became progressively worse, but not fatal, between 1 and 2.5 months. Prenatal or perinatal infection with feline panleukopenia virus, inherited lysosomal storage diseases, including gangliosidosis and mannosidosis, and feline hereditary neuroaxonal dystrophy were excluded. Magnetic resonance imaging indicated that size of the cerebellum of diseased cats was markedly reduced. Cerebellar cortical degeneration, especially with extensive destruction of Purkinje cells, was observed microscopically.
The disease was concluded to be cerebellar degeneration of a new clinical form in cats having an autosomal recessive mode of inheritance.
When cerebellar dysfunction is diagnosed in a cat, hereditary cerebellar degeneration of this type should be considered in the differential diagnosis.
阐明在跨越2代的3只猫中观察到的共济失调的性质。
尝试进行实验性繁殖以确认该疾病的遗传性并确定遗传模式；对最初的3只猫及其后代进行了研究。
7只患病猫，跨越3代，以及11只神经功能正常的猫。
使用以下方法对猫进行检查：临床观察、血液学和血清生化检查、神经学检查、电诊断、磁共振成像、溶酶体酶活性测定、水平传播试验以及病毒学和病理学检查。
通过回交获得的所有小猫（1只雄性和3只雌性）从7至8周龄起出现单纯的小脑功能障碍。在1至2.5个月之间逐渐恶化，但不致命。排除了猫泛白细胞减少症病毒的产前或围产期感染、遗传性溶酶体贮积病，包括神经节苷脂病和甘露糖苷贮积病，以及猫遗传性神经轴索性营养不良。磁共振成像表明患病猫的小脑大小明显减小。显微镜下观察到小脑皮质变性，尤其是浦肯野细胞广泛破坏。
该疾病被判定为一种新临床形式的猫小脑变性，具有常染色体隐性遗传模式。
当诊断出猫患有小脑功能障碍时，在鉴别诊断中应考虑这种类型的遗传性小脑变性。
