Armstrong D, Koppang N, Nilsson S E
Eur Neurol. 1982;21(3):147-56. doi: 10.1159/000115472.
Dogs with an inherited form of ceroid lipofuscinosis are ataxic, blind and demented. During the disease process, they undergo severe cerebrocerebellar atrophy with storage of autofluorescent, lipid peroxide-positive reacting substances whose ultrastructure resembles 'fingerprint' patterns of membranous lamellae. The retina and RPE also undergo pathologic changes. Most important is the inverse relationship between loss of RPE melanin and increased deposition of ceroid. These pathological events in brain and eye lead to altered EEG, ERG and VEP activity. This inbred strain of English setters fulfills essentially all the criteria as a model for the human disease and will prove useful in the future for therapeutic trials.
患有遗传性类蜡样脂褐质沉积症的犬会出现共济失调、失明和痴呆症状。在疾病过程中，它们会出现严重的脑小脑萎缩，并储存自发荧光、过氧化脂质阳性反应物质，其超微结构类似于膜状薄片的“指纹”图案。视网膜和视网膜色素上皮（RPE）也会发生病理变化。最重要的是RPE黑色素丧失与类蜡样物质沉积增加之间的反比关系。大脑和眼睛中的这些病理事件会导致脑电图（EEG）、视网膜电图（ERG）和视觉诱发电位（VEP）活动改变。这种近交系英国塞特犬基本满足作为人类疾病模型的所有标准，未来将被证明对治疗试验有用。
