CORE-- NEUROPATHOLOGY

描述（由申请人提供）： 神经病理学核心的目标是提供技术资源， 实验室设施和专业知识的收集，诊断， 以及储存从痴呆患者尸检中获得的组织， 在临床核心，国家细胞库核心， 以及其他机构转介的个案。神经病理学核心将 向转诊医生提供有关病理数据的信息， 家庭，以及良好的组织特征的基础研究人员。在 此外，核心将参与继续教育的医生， 研究人员，技术人员和社区对新的发展出现 阿尔茨海默病（AD）研究。 我们对AD的临床、病理和分子方面的了解， 其他痴呆症在过去十年中发展迅速。脑组织 出于诊断和研究目的，必须研究痴呆症患者的行为 采用多学科方法。我们扩大了痴呆症实验室 和我们的组织库。核心 对遗传性早老性痴呆的调查作出了贡献：（i） 表征具有APP和PSI基因突变的家族性AD，（ii） 描述散发性和遗传性朊病毒的神经病理表型 疾病，（iii）表征的神经病理表型 与17号染色体相关的额颞叶痴呆伴帕金森综合征，和（iv） 发现APP，PSI，PRNP，Tau和Neuroserpin的新突变，以及 未分类的早老性痴呆 我们正在扩大我们的使命，整合分子技术， 痴呆的神经病理学诊断通过使用脑组织， 通过尸检，我们确定了个别病例的分子遗传学。我们 结合神经组织学、免疫组织化学和 免疫细胞化学识别和表征的定位和 分子的抗原谱，这是重要的发病机制 痴呆这些研究与分子分析同时进行， 理解疾病病因和表型异质性的基础。我们 我认为这种多学科的研究方法是空间碎片协委会的一个标志 神经病理学核心，它将帮助我们提供一个明确的诊断， 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.