CORE-- NEUROPATHOLOGY

描述(由申请人提供)： 神经病理学核心的目的是提供技术资源， 实验室设施和专业知识用于采集、诊断 和储存从痴呆症患者尸检中获得的组织和 对照研究对象在临床核心，国家细胞库核心， 以及来自其他机构的转介案例。神经病理学的核心意志 向转诊医生提供有关病理数据的信息，并 家庭，以及特征良好的组织给基础研究人员。在……里面 此外，核心将参与对医生的继续教育， 研究人员、技术人员和社会各界对新发展的看法 来自阿尔茨海默病S病(AD)的研究。 我们对AD的临床、病理和分子方面的理解 其他痴呆症在过去十年里发展迅速。脑组织 必须为了诊断和研究目的而对痴呆症患者进行研究 使用多学科方法。我们扩大了痴呆症实验室 用于脑部退行性疾病和我们的组织储存库。核心拥有 对遗传性老年前痴呆的研究作出了贡献：(I) 家族性阿尔茨海默病APP和PSI基因突变的特征(II) 散发性和遗传性Prion的神经病理表型特征 疾病，(Iii)神经病理表型的特征 与17号染色体连锁的帕金森病患者的额颞部痴呆，以及(Iv) 也在APP、PSI、PRNP、Tau和Neuroserpin中发现新的突变 作为未分类的老前期痴呆症。 我们正在扩大我们的使命，整合分子技术来协助 痴呆的神经病理诊断。通过使用在以下位置获得的脑组织 尸检，我们定义了个体病例的分子遗传学。我们是 结合神经组织学、免疫组织化学和 免疫细胞化学以识别和表征定位和 在发病机制中起重要作用的分子的抗原性 痴呆症。这些研究与分子分析并行进行，是 了解疾病病因学和表型异质性的基础。我们 认为这种多学科方法是空间碎片协委会的标志 神经病理学核心，它将帮助我们提供明确的诊断 精神错乱。

DESCRIPTION (provided by applicant): The aims of the Neuropathology Core are to provide technical resources, laboratory facilities and professional expertise for the collection, diagnosis and storage of tissue obtained at autopsy from patients with dementia and control subjects studied in the Clinical Core, National Cell Repository Core, and from referral cases from other institutions. The Neuropathology Core will provide information about pathologic data to referring physicians and families, as well as well-characterized tissue to basic researchers. In addition, the Core will be involved in continuing education to physicians, researchers, technicians and the community about new developments emerging from Alzheimer s disease (AD) research. Our understanding of the clinical, pathologic and molecular aspects of AD and other dementias has advanced rapidly during the last ten years. Brain tissue of demented individuals must be studied for diagnostic and research purposes using a multidisciplinary approach. We have expanded our Dementia Laboratory for degenerative brain diseases and our tissue repository. The Core has contributed to the investigations of hereditary presenile dementias by: (i) characterizing familial AD with mutations in the APP and PSI genes, (ii) characterizing the neuropathologic phenotypes of sporadic and hereditary prion diseases, (iii) characterizing the neuropathologic phenotypes of frontotemporal dementia with parkinsonism linked to chromosome 17, and (iv) discovering novel mutations in APP, PSI, PRNP, Tau, and Neuroserpin, as well as unclassified forms of presenile dementia. We are expanding our mission, integrating molecular technology to assist in the neuropathologic diagnosis of dementia. By using brain tissue obtained at autopsy, we define the molecular genetics of individual cases. We are combining data obtained by neurohistology, immunohistochemistry and immunocytochemistry to recognize and characterize the localization and the antigenic profile of molecules that are important to the pathogenesis of dementia. These studies, carried out in parallel with molecular analysis, are fundamental to understanding disease etiology and phenotypic heterogeneity. We consider this multidisciplinary approach to be the hallmark of the IADC Neuropathology Core, and it will aid us in providing a definitive diagnosis of dementing disorders.