Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease

被引：0
作者：
Rita Guerreiro
Jose Bras
Jamie Toombs
Amanda Heslegrave
John Hardy
Henrik Zetterberg
机构：
[1] UCL Institute of Neurology,Department of Molecular Neuroscience
[2] The Sahlgrenska Academy at University of Gothenburg,Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology
[3] UCL Institute of Neurology,Department of Molecular Neuroscience
来源：
Current Genetic Medicine Reports | 2015年 / 3卷 / 1期
关键词：
Cerebrospinal fluid; Imaging biomarkers; Novel susceptibility genes; Risk alleles;
D O I：
10.1007/s40142-014-0062-6
中图分类号：
学科分类号：
摘要：
From a neuropathological perspective, elderly patients who die with a clinical diagnosis of sporadic Alzheimer’s disease (AD) are a heterogeneous group with several different pathologies contributing to the AD phenotype. This poses a challenge when searching for low effect size susceptibility genes for AD. Further, control groups may be contaminated by significant numbers of preclinical AD patients, which also reduces the power of genetic association studies. Here, we discuss how cerebrospinal fluid and imaging biomarkers can be used to increase the chance of finding novel susceptibility genes and as a means to study the functional consequences of risk alleles.
引用
收藏
页码：19 / 25
页数：6
相关论文
共 346 条
  • [1] Neumann MA(1953)Incidence of Alzheimer’s disease in large mental hospital; relation to senile psychosis and psychosis with cerebral arteriosclerosis AMA Arch Neurol Psychiatry 69 615-636
  • [2] Cohn R(1970)Observations on the brains of demented old people J Neurol Sci 11 205-242
  • [3] Tomlinson BE(1982)Alzheimer’s disease and senile dementia: loss of neurons in the basal forebrain Science 215 1237-1239
  • [4] Blessed G(1991)Amyloid deposition as the central event in the aetiology of Alzheimer’s disease Trends Pharmacol Sci 12 383-388
  • [5] Roth M(1992)Alzheimer’s disease: the amyloid cascade hypothesis Science 256 184-185
  • [6] Whitehouse PJ(2007)Mixed brain pathologies account for most dementia cases in community-dwelling older persons Neurology 69 2197-2204
  • [7] Price DL(2012)Dementia from Alzheimer disease and mixed pathologies in the oldest old JAMA 307 1798-1800
  • [8] Struble RG(2011)TDP-43 pathological changes in early onset familial and sporadic Alzheimer’s disease, late onset Alzheimer’s disease and Down’s syndrome: association with age, hippocampal sclerosis and clinical phenotype Acta Neuropathol 122 703-713
  • [9] Clark AW(2013)Clinical and multimodal biomarker correlates of ADNI neuropathological findings Acta Neuropathol Commun 1 65-316
  • [10] Coyle JT(2011)Prevalence and pathology of dementia with Lewy bodies in the oldest old: a comparison with other dementing disorders Dement Geriatr Cogn Disord 31 309-654
12345678910