背景:神经遗传性疾病在家畜中很少见。小脑皮质变性仍然是这些疾病中最常见的。该病症被定义为由于遗传或代谢缺陷而导致的完全分化的小脑成分的过早丧失。它已经在狗和猫身上进行了研究,在这些物种中,各种遗传缺陷和诊断测试(包括磁共振成像(MRI))已得到完善。猫的病例仍然很少见,而且大多是个体的,很少有诊断标准,除了验尸,已在多个病例的报告中进行了评估。这里,我们报告了三例小脑皮质变性的猫病例,详细的临床,诊断成像和尸检结果。
方法:3例直接(兄弟姐妹,案例#1和#2)或间接相关(同一农场,病例#3)并显示疾病的早期发作,临床症状包括小脑共济失调和震颤。在所有三例病例中,脑部MRI高度提示小脑皮质变性。相对脑脊液(CSF)空间,相对小脑大小,脑干:小脑面积比,和小脑:总脑面积比,在文献中测量并与猫的对照组和狗的参考截止值进行比较。对于相对小脑大小和小脑:总脑面积比,所有受影响病例的数值均低于对照组.对于相对CSF空间和脑干:小脑面积比,受影响的病例数(#2和#3)高于对照组,而受影响最小的病例(#3)的值在对照组的范围内,但随着时间的推移,进展是可见的。验尸证实诊断为小脑皮质变性,Purkinje细胞明显至完全丧失,相关的颗粒层耗竭和Bergmann胶质细胞增殖。其中一例脊髓也有Wallerian样变性,提示脊髓小脑变性。
结论:我们的报告进一步支持了猫疾病的潜在遗传因素。对于MRI检查,相对小脑大小和小脑:总脑面积比似乎很有希望,但是需要进一步的研究来确定特定的猫科动物的截止日期。小脑的事后评估仍然是最终诊断的金标准。
BACKGROUND: Neurological inherited disorders are rare in domestic animals. Cerebellar cortical degeneration remains amongst the most common of these disorders. The condition is defined as the premature loss of fully differentiated cerebellar components due to genetic or metabolic defects. It has been studied in dogs and cats, and various genetic defects and diagnostic tests (including magnetic resonance imaging (MRI)) have been refined in these species. Cases in cats remain rare and mostly individual, and few diagnostic criteria, other than post-mortem exam, have been evaluated in reports with multiple cases. Here, we report three feline cases of cerebellar cortical degeneration with detailed clinical, diagnostic imaging and post-mortem findings.
METHODS: The three cases were directly (siblings, case #1 and #2) or indirectly related (same farm, case #3) and showed early-onset of the disease, with clinical signs including cerebellar ataxia and tremors. Brain MRI was highly suggestive of cerebellar cortical degeneration on all three cases. The relative cerebrospinal fluid (CSF) space, relative cerebellum size, brainstem: cerebellum area ratio, and cerebellum: total brain area ratio, were measured and compared to a control group of cats and reference cut-offs for dogs in the literature. For the relative cerebellum size and cerebellum: total brain area ratio, all affected cases had a lower value than the control group. For the relative CSF space and brainstem: cerebellum area ratio, the more affected cases (#2 and #3) had higher values than the control group, while the least affected case (#3) had values within the ranges of the control group, but a progression was visible over time. Post-mortem examination confirmed the diagnosis of cerebellar cortical degeneration, with marked to complete loss of Purkinje cells and associated granular layer depletion and proliferation of Bergmann glia. One case also had Wallerian-like degeneration in the spinal cord, suggestive of spinocerebellar degeneration.
CONCLUSIONS: Our report further supports a potential genetic component for the disease in cats. For the MRI examination, the relative cerebellum size and cerebellum: total brain area ratio seem promising, but further studies are needed to establish specific feline cut-offs. Post-mortem evaluation of the cerebellum remains the gold standard for the final diagnosis.