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Essential tremor with ubiquitinated intranuclear inclusions and cerebellar degeneration.

机译:原发性震颤伴泛素化核内包裹物和小脑变性。

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Essential tremor (ET), a progressive, age-associated disease, is one of the most common neurological disorders. Yet until recently, there had been few postmortem examinations so that the full range of pathological changes associated with this disease has not been catalogued.We report a patient with ET who had a pattern of pathological change which to our knowledge has not previously been reported in ET or another neurological disease.Clinical-pathological case report.The patient had adult-onset, non-familial, kinetic arm tremor that gradually worsened. Voice and head tremors were also present. The clinical diagnosis was ET. She died at age 102. On postmortem examination, there was severe segmental loss of Purkinje cells, Bergmann gliosis and numerous torpedoes in the cerebellum. The other outstanding change was the presence of neurons in the cerebral cortex and hippocampus that contained an ubiquitinated, nuclear inclusion. These inclusions were not detected in Luxol fast blue/hematoxylin and eosin-stained sections.This ET patient had a pattern of pathological change that has not been reported previously. This case further reinforces the view that ET is likely to be a heterogeneous family of degenerative diseases whose underlying pathological anatomy involves the cerebellum.
机译:原发性震颤(ET)是一种与年龄相关的进行性疾病,是最常见的神经系统疾病之一。然而直到最近,死后检查很少,因此尚未对该病相关的病理变化进行完整分类。我们报道了一名ET患者,其病理变化模式据我们所知在以前没有报道过。 ET或其他神经系统疾病。临床病理病例报告。患者患有成年发作的非家族性动臂震颤,并逐渐恶化。还出现声音和头部震颤。临床诊断为ET。她在102岁时去世。死后检查发现,小节的浦肯野细胞,伯格曼神经胶质增生和许多鱼雷严重节段性丢失。另一个突出的变化是大脑皮层和海马中神经元的存在,这些神经元包含泛素化的核包涵体。这些包涵体未在Luxol固蓝/苏木精和曙红染色切片中检测到。该ET患者的病理改变模式以前未见报道。这种情况进一​​步证实了ET可能是变性疾病的异质家族,其潜在的病理解剖学涉及小脑。

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