Biological markers for the clinical diagnosis of Alzheimer's disease.

There is a compelling need to develop biological marker(s) to confirm a clinical diagnosis of Alzheimer's disease (AD) during life in order to unequivocally identify AD patients for emerging therapeutic interventions. This review describes recent advances in the development of diagnostic marker(s) for AD. They include polymorphism of apolipoprotein E (ApoE) and alpha 1-antichymotrypsin as well as cerebrospinal fluid (CSF) tau and CSF-amyloid beta-protein levels, skin biopsy, and pupil dilatation assay by anti-cholinergic agent. In conclusion, ApoE genotyping should not be used as a sole diagnostic test for AD, and that monitoring of CSF-tau appeared to be most promising and reliable diagnostic aid.

[1]  H. Arai,et al.  Apolipoprotein E epsilon 4 allele and pupillary response to tropicamide. , 1997, The American journal of psychiatry.

[2]  H. Arai,et al.  Pupillary Response to Tropicamide in Japanese Patients with Alcoholic Dementia, Alzheimer's Disease, and Vascular Dementia , 1997, Experimental Neurology.

[3]  J. Trojanowski,et al.  The apolipoprotein E gene in Binswanger's disease and vascular dementia , 1996, Clinical genetics.

[4]  M. Higuchi,et al.  ELEVATED CEREBROSPINAL FLUID TAU LEVELS: IMPLICATIONS FOR THE EARLY DIAGNOSIS OF ALZHEIMER'S DISEASE , 1996, Journal of the American Geriatrics Society.

[5]  H. Arai,et al.  Expression of apolipoprotein E in normal and diverse neurodegenerative disease brain. , 1996, Neuroreport.

[6]  H. Arai,et al.  S182 and STM2 gene missense mutations in sporadic Alzheimer disease. , 1996, American journal of medical genetics.

[7]  S. Lovestone,et al.  Presenilin-1 polymorphism and Alzheimer's disease. The UK Alzheimer's Disease Collaborative Group. , 1996, Lancet.

[8]  M. Owen,et al.  Presenilin-1 polymorphism and Alzheimer's disease , 1996, The Lancet.

[9]  H. Arai,et al.  Pupil dilatation assay by tropicamide is modulated by apolipoprotein E e4 allele dosage in Alzheimer's disease , 1996, Neuroreport.

[10]  A. Goate,et al.  Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease , 1996, The Lancet.

[11]  J. Trojanowski,et al.  TEMPORAL PROGRESSION OF HIPPOCAMPAL ATROPHY AND APOLIPOPROTEIN E GENE IN ALZHEIMER'S DISEASE , 1996, Journal of the American Geriatrics Society.

[12]  B. Hyman,et al.  Alzheimer–associated presenilins 1 and 2 : Neuronal expression in brain and localization to intracellular membranes in mammalian cells , 1996, Nature Medicine.

[13]  Peter Riederer,et al.  Interleukin-1β and interleukin-6 are elevated in the cerebrospinal fluid of Alzheimer's and de novo Parkinson's disease patients , 1995, Neuroscience Letters.

[14]  S. Gauthier,et al.  Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[15]  T. Wisniewski,et al.  S182 protein in Alzheimer's disease neuritic plaques , 1995, The Lancet.

[16]  J. Trojanowski,et al.  Tau in cerebrospinal fluid: A potential diagnostic marker in Alzheimer's disease , 1995, Annals of neurology.

[17]  R. Wolfert,et al.  Reduction of β‐amyloid peptide42 in the cerebrospinal fluid of patients with Alzheimer's disease , 1995 .

[18]  A. Kling,et al.  Serum α1-antichymotrypsin level as a marker for Alzheimer-type dementia , 1995, Neurobiology of Aging.

[19]  G. Schellenberg,et al.  Candidate gene for the chromosome 1 familial Alzheimer's disease locus , 1995, Science.

[20]  E M Wijsman,et al.  A familial Alzheimer's disease locus on chromosome 1 , 1995, Science.

[21]  M. Ilyas Kamboh,et al.  A4POE*4-associated Alzheimer's disease risk is modified by α1–antichymotrypsin polymorphism , 1995, Nature Genetics.

[22]  K. Maitland,et al.  A survey for the rare blood group antigen variants, En(a-), Gerbich negative and Duffy negative on Espiritu Santo, Vanuatu in the South Pacific. , 1995, Human heredity.

[23]  D. Pollen,et al.  Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease , 1995, Nature.

[24]  S. Hirai,et al.  Alpha1-Antichymotrypsin Level in Cerebrospinal Fluid Is Closely Associated with Late Onset Alzheimer's Disease , 1995 .

[25]  J. Growdon,et al.  Cerebrospinal fluid levels of amyloid β‐protein in alzheimer's disease: Inverse correlation with severity of dementia and effect of apolipoprotein e genotype , 1995, Annals of neurology.

[26]  L. Chang,et al.  Elevation of microtubule-associated protein tau in the cerebrospinal fluid of patients with Alzheimer's disease , 1995, Neurology.

[27]  Arto Mannermaa,et al.  A severe loss of choline acetyltransferase in the frontal cortex of Alzheimer patients carrying apolipoprotein ε4 allele , 1995, Neuroscience Letters.

[28]  C. Hock,et al.  Increased levels of τ protein in cerebrospinal fluid of patients with alzheimer's disease—correlation with degree of cognitive impairment , 1995, Annals of neurology.

[29]  Lars Lannfelt,et al.  Increased cerebrospinal fluid tau in patients with Alzheimer's disease , 1995, Neuroscience Letters.

[30]  S. Hirai,et al.  Tau in cerebrospinal fluids: establishment of the sandwich ELISA with antibody specific to the repeat sequence in tau , 1995, Neuroscience Letters.

[31]  T. Hasegawa,et al.  Decreased interleukin-6 level in the cerebrospinal fluid of patients with Alzheimer-type dementia , 1995, Neuroscience Letters.

[32]  E. Wolters,et al.  Concentrations of amyloid β protein in cerebrospinal fluid of patients with alzheimer's disease , 1995, Annals of neurology.

[33]  L. Thal,et al.  Diagnosis and evaluation of dementia* , 1995, Neurology.

[34]  D. Mann,et al.  Dominant and differential deposition of distinct β-amyloid peptide species, Aβ N3(pE), in senile plaques , 1995, Neuron.

[35]  A. Roses,et al.  Apolipoprotein E genotype and Lewy body disease , 1995, Neurology.

[36]  J. Poirier Apolipoprotein E in animal models of CNS injury and in alzheimer's disease , 1994, Trends in Neurosciences.

[37]  S. Younkin,et al.  Amyloid β protein levels in cerebrospinal fluid are elevated in early‐onset Alzheimer's disease , 1994 .

[38]  E. Perry,et al.  Influence of apolipoprotein E genotype on senile dementia of the Alzheimer and Lewy body types. Significance for etiological theories of Alzheimer's disease. , 1994, The American journal of pathology.

[39]  D Dressler,et al.  A potential noninvasive neurobiological test for Alzheimer's disease. , 1994, Science.

[40]  T. Iwatsubo,et al.  Apolipoprotein E gene in diffuse Lewy body disease with or without co-existing Alzheimer's disease , 1994, The Lancet.

[41]  H. Brewer,et al.  Amyloid-associated proteins α1-antichymotrypsin and apolipoprotein E promote assembly of Alzheimer β-protein into filaments , 1994, Nature.

[42]  J. Trojanowski,et al.  Apolipoprotein E ε4 allele distribution in alcoholic dementia and in Alzheimer's disease in Japan , 1994 .

[43]  H. Arai,et al.  Apolipoprotein E gene in Parkinson's disease with or without dementia , 1994, The Lancet.

[44]  H. Soininen,et al.  beta-Amyloid protein immunoreactivity in skin is not a reliable marker of Alzheimer's disease. An autopsy-controlled study. , 1994, Archives of neurology.

[45]  R. Fukuda,et al.  Association of apolipoprotein E4 with sporadic Alzheimer's disease is more pronounced in early onset type , 1994, Neuroscience Letters.

[46]  T. Iwatsubo,et al.  Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: Evidence that an initially deposited species is Aβ42(43) , 1994, Neuron.

[47]  A. M. Saunders,et al.  Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease , 1994, Nature Genetics.

[48]  H. Wiśniewski,et al.  α1-Antichymotrypsin and IL-1β are not increased in CSF or serum in Alzheimer's disease , 1994, Neurobiology of Aging.

[49]  J. Trojanowski,et al.  Expression of β-amyloid precursor protein in the developing human spinal cord , 1994, Brain Research.

[50]  Margaret A. Pericak-Vance,et al.  Hypothesis: Microtubule Instability and Paired Helical Filament Formation in the Alzheimer Disease Brain Are Related to Apolipoprotein E Genotype , 1994, Experimental Neurology.

[51]  Jan Six,et al.  Detection of Proteins in Normal and Alzheimer's Disease Cerebrospinal Fluid with a Sensitive Sandwich Enzyme‐Linked Immunosorbent Assay , 1993 .

[52]  J. Haines,et al.  Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. , 1993, Science.

[53]  M. Pericak-Vance,et al.  Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[54]  S. Hirai,et al.  Diagnostic significance of skin immunolabelling with antibody against native cerebral amyloid in Alzheimer's disease , 1993, Neuroscience Letters.

[55]  J. Trojanowski,et al.  Altered Tau and Neurofilament Proteins in Neuro‐Degenerative Diseases: Diagnostic Implications for Alzheimer's Disease and Lewy Body Dementias , 1993, Brain pathology.

[56]  B. Winblad,et al.  A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid , 1992, Nature Genetics.

[57]  J. Trojanowski,et al.  Epitope analysis of senile plaque components in the hippocampus of patients with Parkinson's disease , 1992, Neurology.

[58]  C. Cotman,et al.  Decreased levels of soluble amyloid beta-protein precursor in cerebrospinal fluid of live Alzheimer disease patients. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[59]  J. Trojanowski,et al.  Expression patterns of β‐amyloid precursor protein (β‐APP) in neural and nonneural human tissues from alzheimer's disease and control subjects , 1991 .

[60]  S. V. Tan,et al.  Postradiation motor neuron syndrome of the upper cervical region--a manifestation of the combined effect of cranial irradiation and intrathecal chemotherapy? , 1991, Journal of neurology, neurosurgery, and psychiatry.

[61]  M. Pericak-Vance,et al.  Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease , 1991, Nature.

[62]  E. Otomo,et al.  Apolipoprotein E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's disease and kuru plaque amyloid in Creutzfeldt-Jakob disease , 1991, Brain Research.

[63]  J. Trojanowski,et al.  A68: a major subunit of paired helical filaments and derivatized forms of normal Tau. , 1991, Science.

[64]  S. Hirai,et al.  α1‐Antichymotrypsin as a possible biochemical marker for Alzheimer‐type dementia , 1990 .

[65]  D. Leys,et al.  Are alpha-1-antichymotrypsin and inter-alpha-trypsin inhibitor peripheral markers of Alzheimer's disease? , 1990, Neurobiology of Aging.

[66]  D. Selkoe,et al.  Amyloid β-protein deposition in tissues other than brain in Alzheimer's disease , 1989, Nature.

[67]  O. Lopez,et al.  Diagnosis of dementia , 1989, Neurology.

[68]  D. Selkoe,et al.  Immunochemical identification of the serine protease inhibitor α 1-antichymotrypsin in the brain amyloid deposits of Alzheimer's disease , 1988, Cell.

[69]  R. E. Pitas,et al.  Lipoproteins and their receptors in the central nervous system. Characterization of the lipoproteins in cerebrospinal fluid and identification of apolipoprotein B,E(LDL) receptors in the brain. , 1987, The Journal of biological chemistry.

[70]  K. Davis,et al.  Antemortem markers of Alzheimer's disease , 1986, Neurobiology of Aging.

[71]  E. Shooter,et al.  Expression of apolipoprotein E during nerve degeneration and regeneration. , 1986, Proceedings of the National Academy of Sciences of the United States of America.

[72]  Z. Khachaturian Diagnosis of Alzheimer's disease. , 1985, Archives of neurology.

[73]  M. Folstein,et al.  Clinical diagnosis of Alzheimer's disease , 1984, Neurology.

[74]  M. Adams,et al.  The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families , 1995, Nature Genetics.

[75]  R. Mahley,et al.  Lipoproteins, neurobiology, and Alzheimer's disease: structure and function of apolipoprotein E , 1994 .

[76]  P. Scheltens,et al.  Serum α1-antichymotrypsin is not a useful marker for Alzheimer's disease or dementia in Parkinson's disease , 1993 .

[77]  J. Taylor,et al.  Apolipoprotein E mRNA is abundant in the brain and adrenals, as well as in the liver, and is present in other peripheral tissues of rats and marmosets. , 1985, Proceedings of the National Academy of Sciences of the United States of America.