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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease
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Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease

机译：常染色体占优势kufs病中胆碱能功能障碍的证据

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Objective: Neuronal ceroid-lipofuscinoses are a heterogeneous group of inherited disorders in which abnormal lipopigments form lysosomal inclusion bodies in neurons. Kufs disease is rare, and clinical symptoms include seizures, progressive cognitive impairment, and myoclonus. Most cases of Kufs disease are autosomal recessive; however, there have been a few case reports of an autosomal dominant form linked to mutations within the DNAJC5 gene. Methods: We describe a family with Kufs disease in which the proband and three of her four children presented with cognitive impairment, seizures, and myoclonus. Results: Genetic testing of all four children was positive for a c.346_348delCTC(p.L116del) mutation in the DNAJC5 gene. The proband brain had an abundance of neuronal lipofuscin in the cerebral cortex, striatum, amygdala, hippocampus, substantia nigra, and cerebellum. There were no amyloid plaques or neurofibrillary tangles. Immunohistochemistry demonstrated that the cholinergic neurons and cholinergic projection fibers were spared, but there was a profound loss of choline acetyltransferase within the caudate, putamen, and basal forebrain. This suggests a loss of choline acetyltransferase as opposed to a loss of the neurons. Conclusions: This report describes the clinical history of autosomal dominant Kufs disease, the genetic mutation within the DNAJC5 gene, and the neuropathological findings demonstrating depletion of choline acetyltransferase in the brain.
机译：目的：神经元缀合物是一种异质的遗传性疾病，其异常脂溶液在神经元中形成溶酶体包涵体。 Kufs疾病是罕见的，临床症状包括癫痫发作，渐进的认知障碍和肌阵挛。大多数Kufs病病例是常染色体隐性;然而，已经有一些案例报告与DNAJC5基因内的突变相关的常染色体显性形式。方法：我们描述了一种患有Kufs病的家庭，其中概念和她的四个孩子中的三个患有认知障碍，癫痫发作和肌阵挛。结果：DNAJC5基因中，所有四个儿童的遗传检测对于C.346_348delctc（p.l116del）突变是阳性的。脑大脑在脑皮质，纹状体，杏仁菌，海马，体内NIGRA和小脑中具有丰富的神经元脂蛋白。没有淀粉样蛋白斑块或神经纤维斑块。免疫组织化学证明了胆碱能神经元和胆碱能投影纤维被施加，但是在尾部，腐烂和基础前脑内胆碱乙酰转移酶的深远丧失。这表明胆碱乙酰转移酶的损失与神经元的损失相反。结论：本报告描述了常染色体显性kufs疾病的临床病史，DNAJC5基因内的遗传突变，以及神经病理学发现，证明了脑内胆碱乙酰转移酶的耗尽。

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