Early detection of canine ceroid-lipofuscinosis (CCL): an ultrastructural study.
Early detection of canine ceroid-lipofuscinosis (CCL): an ultrastructural study.
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犬蜡样质脂褐质沉积症（CCL）的早期检测：一项超微结构研究。
DOI：
10.1002/ajmg.1320570228
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Siakotos,AN
中科院分区：
文献类型：
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作者：
Savill,J;Azzarelli,B;Siakotos,AN
来自科庞系的英国塞特犬已被用作人类患者中幼年型巴滕病的模型。科庞[1973：Mech Ageing Dev 2：421-445]已经证明这种疾病，犬蜡样脂肪褐质沉积症（CCL），是一种常染色体隐性遗传疾病。纯合子动物通过自发荧光显示典型的储存颗粒;然而，在3-6月龄之前的受影响犬中不易检测到自发荧光物质。目前，CCL的早期阶段只能在纯合交配的窝仔中进行研究。使用电子显微镜研究诊断2-3周龄杂合-杂合（HET-HET）和杂合-纯合（HET-HOM）窝中受影响动物的可靠性。检查脑活检的电子显微照片，并测量所有致密体（d.b.），包括CCL典型的线性和指纹图案。结果表明，受影响的动物比未受影响的携带者具有更高数量的致密体。4 - 6个月后，在第二次对侧活检中进行了确证性诊断，并通过自体荧光作为冷冻切片进行了检查。在2-3周龄时通过电子显微镜进行的诊断似乎与在4-6月龄时通过自体荧光获得的结果相同。© 1995 Wiley利斯公司
English setters from the Koppang line have been used as a model for the juvenile type of Batten disease in human patients. This disorder, canine ceroid‐lipofuscinosis (CCL), has been shown by Koppang [1973: Mech Ageing Dev 2:421–445] to be an autosomal recessive disorder. Homozygous animals show the typical storage granules by autofluorescence; however, the autofluorescence material cannot easily be detected in affected dogs before age 3–6 months. At the present time the early stages of CCL can be studied only in litters from homozygous matings. Electron microscopy was used to study the reliability of diagnosing affected animals in heterozygous‐heterozygous (HET‐HET) and heterozygous‐homozygous (HET‐HOM) litters at age 2–3 weeks. The electron micrographs of brain biopsies were examined and the number of all dense bodies (d.b.), including linear and fingerprint patterns typical of CCL, were counted per neuron. The results indicated that affected animals have higher numbers of dense bodies than nonaffected carriers. Four‐6 months later confirmatory diagnoses were made on a second contralateral biopsy taken and examined as a frozen section by autofluorescence. The diagnoses made by electron microscopy at age 2–3 weeks appeared identical to the results obtained by autofluorescence at 4–6 months of age. © 1995 Wiley‐Liss, Inc.