CORE--NATIONAL CELL REPOSITORY

描述(由申请人提供)： 印第安纳州阿尔茨海默病中心国家细胞库成立 收集和保存大量的信息和生物标本 遗传信息丰富，表型特征良好的家系 多名阿尔茨海默病患者S(AD)。这些家谱 然后提供给世界各地的研究人员，并导致了我们的 扩大了对阿尔茨海默病遗传学的理解。在过去几年中， 关于家族性痴呆的研究范围已经扩大到包括 不仅有家族性阿尔茨海默病，还有其他病因引起的家族性痴呆。而当 其中几种疾病背后的分子机制是 这些神经退行性疾病的发病机制仍未阐明 不清楚。在这些疾病之间发现了一些有趣的相似之处， 据推测，这些疾病之间的重叠代表着共享 致病机制。 为了应对家族性痴呆症研究范围的扩大，国家 Cell Repository计划在未来五年内将其重点扩大到 包括家系的确定、特征和分布 所有类型的家族性痴呆。国家细胞库将继续 优先进行尸检确认疾病。自实施以来， 存储库，神经病理诊断的标准已经演变，使其 至关重要的是，储存库中的某些大脑样本将进一步 检查以确认和进一步勾画神经病理诊断。 为了提高国家细胞库中所有家族的实用性， 痴呆症相关致病基因(APP、PSI、PS2、Tau、 PRNP)将在有临床表现的早发性家庭中进行 与已知的基因缺陷一致。此外，APOE基因分型将 在所有国家细胞库样本中执行，以增加 把这些样本交给研究人员。所有分子和神经病理学结果 AD调查人员将通过Cell Line和 DNA目录。 国家细胞库将继续与AD研究人员合作 为基因研究提供最有用和最具信息量的数据。这一焦点 关于高质量的谱系特征导致该存储库被 近50名研究人员，并出版了40份出版物。

DESCRIPTION (provided by applicant): The Indiana Alzheimer Disease Center National Cell Repository was established to collect and maintain information and biological specimens on large numbers of genetically informative, phenotypically well-characterized families with multiple individuals affected with Alzheimer s Disease (AD). These pedigrees were then made available to researchers worldwide and have lead to our expanded understanding of the genetics of AD. During the past few years, the scope of research regarding familial dementias has broadened to include not only familial AD but also familial dementia of other etiological causes. While the molecular mechanism underlying several of these disorders has been elucidated, the pathogenesis of these neurodegenerative diseases remains unclear. Some intriguing similarities among the diseases have been found and it has been postulated that these overlaps between diseases represent shared pathogenic mechanisms. In response to the expanded scope of familial dementia research, the National Cell Repository proposes during the next five years to broaden its focus to include the ascertainment, characterization and distribution of pedigrees with all types of familial dementia. The National Cell Repository will continue to prioritize autopsy confirmation of disease. Since the commencement of the Repository, criteria for neuropathological diagnosis have evolved, making it essential that certain brain samples in the Repository receive further examination to confirm and further delineate the neuropathological diagnoses. To increase the usefulness of all families in the National Cell Repository, molecular testing of dementia-related causative genes (APP, PSI, PS2, Tau, PRNP) will be performed in early onset families with clinical findings consistent with the known genetic defects. In addition, APOE genotyping will be performed in all National Cell Repository samples to increase the value of these samples to researchers. Results of all molecular and neuropathological testing will be made available to AD investigators through the Cell Line and DNA Catalog. The National Cell Repository will continue to work with AD researchers to provide the most useful and informative data for genetic studies. This focus on high quality pedigree characterization has led the Repository to be used by nearly 50 researchers and has resulted in 40 publications.