Genetic Analysis Of Non-alzheimer Dementias

我们使用密集的基于SNP的连锁图谱来识别与家族性额颞叶痴呆相关的新位点。这项工作显示了与9号染色体上现存的位点重叠的连锁，我们现在知道这也是肌萎缩性侧索硬化症的风险位点。这种位置克隆的努力是由Traynor博士的小组领导的（另一份报告）。我们正在进行的路易体痴呆和帕金森病痴呆的研究主要集中在对阿尔茨海默病和帕金森病的基因组关联研究中发现的基因座进行分析，看看我们是否可以梳理出痴呆在这些疾病中的遗传基础这些疾病在神经病理学上位于阿尔茨海默病和帕金森病之间；进一步，这项工作已扩展到分析痴呆/帕金森病遗传风险位点对神经病理学的影响。作为一项大型合作努力的一部分，我们最近撰写了一篇论文，描述了进行性核上性麻痹的新风险位点；目前正在进行一项分析，以剖析这种疾病和帕金森病之间MAPT风险单倍型的差异。

We have used dense SNP based linkage mapping to identify novel loci associated with familial frontotemporal dementia. This work shows linkage overlapping an extant locus on chromosome 9 which we now is understand is also a risk locus for amyotrophic lateral sclerosis. This positional cloning effort is being lead by Dr. Traynor's group (separate report). Our ongoing work on dementia with Lewy bodies and Parkinson's disease with dementia primarily focuses on analysis of loci identified in our genome wide association studies in Alzheimer's disease and Parkinson's disease to see if we can tease out the genetic basis of dementia in these disorders which neuropathologically sit between Alzheimer's and Parkinson's disease; further this work has been extended to analyze the effects of genetic risk loci for dementia/parkinson's disease on neuropathology. As a part of a large collaborative effort we have recently authored a paper describing novel risk loci for Progressive Supranuclear Palsy; and are currently working on an analysis to dissect the differences in MAPT risk haplotypes between this disease and Parkinson's disease.