J Hardy

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi The genetics of neurodegenerative diseases
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland 20892, USA
    J Neurochem 97:1690-9. 2006
  2. ncbi DAPK1 variants are associated with Alzheimer's disease and allele-specific expression
    Yonghong Li
    Celera Diagnostics, Alameda, CA 94502, USA
    Hum Mol Genet 15:2560-8. 2006
  3. ncbi Problems and solutions in the genetic analysis of late-onset Alzheimer's disease
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 3707, USA
    Neurodegener Dis 1:213-7. 2004
  4. pmc Psychiatric disorder criteria and their application to research in different racial groups
    Nancy C P Low
    BMC Psychiatry 7:1. 2007
  5. pmc The Ischemic Stroke Genetics Study (ISGS) Protocol
    James F Meschia
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    BMC Neurol 3:4. 2003
  6. pmc Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
    Jose Bras
    Center for Neurosciences and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
    BMC Neurol 8:1. 2008
  7. pmc Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA
    BMC Neurol 6:44. 2006
  8. pmc A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan
    Hon Chung Fung
    Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, 199 Tung Hwa North Road, Taipei, 10591, Taiwan
    BMC Neurol 6:47. 2006
  9. pmc Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA
    BMC Neurol 6:24. 2006
  10. ncbi The relationship between Lewy body disease, Parkinson's disease, and Alzheimer's disease
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ann N Y Acad Sci 991:167-70. 2003

Detail Information

Publications106 found, 100 shown here

  1. ncbi The genetics of neurodegenerative diseases
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland 20892, USA
    J Neurochem 97:1690-9. 2006
    ..This mechanistic understanding is now leading to therapeutic strategies based on this new understanding. As yet, however, no mechanistic therapies are in use in the clinic...
  2. ncbi DAPK1 variants are associated with Alzheimer's disease and allele-specific expression
    Yonghong Li
    Celera Diagnostics, Alameda, CA 94502, USA
    Hum Mol Genet 15:2560-8. 2006
    ..015 to <0.0001). These data suggest that genetic variation in DAPK1 modulates susceptibility to LOAD...
  3. ncbi Problems and solutions in the genetic analysis of late-onset Alzheimer's disease
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 3707, USA
    Neurodegener Dis 1:213-7. 2004
    ..In this article, we discuss the complexity of the problem and the pitfalls in the analytical methods that have been used and how we are approaching this problem...
  4. pmc Psychiatric disorder criteria and their application to research in different racial groups
    Nancy C P Low
    BMC Psychiatry 7:1. 2007
    ....
  5. pmc The Ischemic Stroke Genetics Study (ISGS) Protocol
    James F Meschia
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    BMC Neurol 3:4. 2003
    ..Our aim is to investigate potential associations between hemostatic gene polymorphisms and ischemic stroke, with particular emphasis on detailed characterization of the phenotype...
  6. pmc Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
    Jose Bras
    Center for Neurosciences and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
    BMC Neurol 8:1. 2008
    ..We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe...
  7. pmc Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA
    BMC Neurol 6:44. 2006
    ..A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p...
  8. pmc A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan
    Hon Chung Fung
    Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, 199 Tung Hwa North Road, Taipei, 10591, Taiwan
    BMC Neurol 6:47. 2006
    ..Recently, a common LRRK2 variant Gly2385Arg was reported in ethnic Chinese PD population in Taiwan. We analyzed the frequency of this variant in our independent PD case-control population of Han Chinese from Taiwan...
  9. pmc Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA
    BMC Neurol 6:24. 2006
    ..Several reports have tested the association of HFE variants with neurodegenerative diseases, such as AD and PD with conflicting results...
  10. ncbi The relationship between Lewy body disease, Parkinson's disease, and Alzheimer's disease
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Ann N Y Acad Sci 991:167-70. 2003
    ....
  11. ncbi A hundred years of Alzheimer's disease research
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, Bethesda, Maryland 20892, USA
    Neuron 52:3-13. 2006
    ..The progress toward effective mechanistic therapy is reviewed...
  12. ncbi The relationship between amyloid and tau
    John Hardy
    Laboratory of Neurogenetics, NIA NIH, Building 10, 6C103, Bethesda, MD 20892, USA
    J Mol Neurosci 20:203-6. 2003
    ....
  13. ncbi Is amyloid plaque imaging the key to monitoring brain pathology of Alzheimer's disease in vivo?
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35, 35 Convent Drive, Room 1A1015 MSC 3707, Bethesda, MD 20892 3707, USA
    Eur J Nucl Med Mol Imaging 31:1539-40. 2004
  14. ncbi Impact of genetic analysis on Parkinson's disease research
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 18:S96-8. 2003
    ..These developments are reviewed in the context of three known (synuclein, parkin, and DJ-1) and one suspected (ubiquitin hydrolase) genes for the disease...
  15. ncbi Alzheimer's disease: the amyloid cascade hypothesis: an update and reappraisal
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35, Convent Drive, Bethesda, MD20892, USA
    J Alzheimers Dis 9:151-3. 2006
    ..Here I recap the scientific and personal background of the delineation of the amyloid cascade hypothesis for Alzheimer's disease that I wrote with Gerry Higgins and the events leading to the writing of that influential review...
  16. ncbi Frontal temporal dementia: dissecting the aetiology and pathogenesis
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institute of Mental Health, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD, USA
    Brain 129:830-1. 2006
  17. ncbi Has the amyloid cascade hypothesis for Alzheimer's disease been proved?
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35, Room 1A1015, 35 Convent Drive, Room 1A1015 MSC 3707, Bethesda, MD 20892 3707, USA
    Curr Alzheimer Res 3:71-3. 2006
    ..In this article, I summarize the major pieces of evidence adduced to support the amyloid cascade hypothesis and point out their limitations...
  18. ncbi Genetics of Parkinson's disease and parkinsonism
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892, USA
    Ann Neurol 60:389-98. 2006
    ....
  19. ncbi Toward Alzheimer therapies based on genetic knowledge
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Med 55:15-25. 2004
    ....
  20. ncbi Expression of normal sequence pathogenic proteins for neurodegenerative disease contributes to disease risk: 'permissive templating' as a general mechanism underlying neurodegeneration
    J Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35, Convent Drive, Bethesda, MD 20892, USA
    Biochem Soc Trans 33:578-81. 2005
    ....
  21. ncbi Reporting and interpretation of genetic variants in cases and controls
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA
    Neurology 69:111-2. 2007
  22. ncbi Pathways to primary neurodegenerative disease
    J Hardy
    Laboratory of Neurogenetics National Institute on Aging, Bethesda, MD 20892, USA
    Neurologia 17:399-401. 2002
    ..Here I argue that while these diseases have separate and distinct etiologies, these initiate few pathogenic processes that lead to cell death...
  23. pmc Putting presenilins centre stage. Introduction to the Talking Point on the role of presenilin mutations in Alzheimer disease
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, National Institutes of Health Main Campus, Bethesda, Maryland 20892, USA
    EMBO Rep 8:134-5. 2007
  24. ncbi Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens
    J Hardy
    Laboratory of Neurogenetics, National Institutes on Aging and National Institutes of Neurological Diseases and Stroke, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
    Biochem Soc Trans 33:582-5. 2005
    ..45000 to 18000 years ago and that the H2 haplotype has been under selection pressure since that time, possibly because of the role of this H1 haplotype in neurodegenerative disease...
  25. ncbi Parkinson's disease: a broken nosology
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Mov Disord 20:S2-4. 2005
    ..Using such a definition, there is only one certain and known cause: mutations in the alpha-synuclein gene. However, the phenotype of this one known cause is broader than PD and encompasses Lewy body dementia...
  26. ncbi Testing times for the "amyloid cascade hypothesis"
    John Hardy
    Laboratory of Neurogenetics, NIA NIH, Building 10, 6C103, Bethesda, MD 20892, USA
    Neurobiol Aging 23:1073-4. 2002
  27. ncbi Does Abeta 42 have a function related to blood homeostasis?
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, NIH Main Campus, Bethesda, MD 20892, USA
    Neurochem Res 32:833-5. 2007
    ..In this review, I discuss the possibility that Abeta42 has a physiologic function in blood vessel homeostasis and the consequences that this might have for theories concerning the pathogenesis of Alzheimer's disease and for treatment...
  28. ncbi Prion genotypes in Central America suggest selection for the V129 allele
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892, USA
    Am J Med Genet B Neuropsychiatr Genet 141:33-5. 2006
    ..We suggest there has been selection at the prion locus, possibly mediated by Kuru-like diseases, which has influenced its allele frequency...
  29. ncbi Tangle diseases and the tau haplotypes
    John Hardy
    Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD 20852, USA
    Alzheimer Dis Assoc Disord 20:60-2. 2006
    ..We discuss the reason for this disequilibrium, its evolutionary history, and the role of genetic variability at MAPT in the etiology of tauopathies...
  30. ncbi The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts
    Amanda J Myers
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892 3707, USA
    Neurobiol Dis 25:561-70. 2007
    ..We discuss these findings both in terms of the problems facing the dissection of the etiologies of complex traits and the pathogenesis of the tauopathies...
  31. ncbi The H1c haplotype at the MAPT locus is associated with Alzheimer's disease
    A J Myers
    Laboratory of Neurogenetics, National Institute on Aging, National Institute of Health, Bethesda, MD 20892 3707, USA
    Hum Mol Genet 14:2399-404. 2005
    ..Here we report that the same haplotype is associated with the risk of AD in two autopsy confirmed series of cases with ages at death >65 years...
  32. ncbi A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia
    Roneil Malkani
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35, Convent Drive, Bethesda, MD 20892, USA
    Neurobiol Dis 22:401-3. 2006
    ..This mutation sheds light on a novel mechanism by which over-expression of 4-repeat tau leads to disease. Based on our current findings, we propose a novel mechanism by which intronic mutations can lead to frontotemporal dementia...
  33. ncbi SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies
    J Johnson
    Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA
    Neurology 63:554-6. 2004
    ..The authors did not identify any subjects with multiplication of SNCA and conclude this mutation is a rare cause of disease...
  34. ncbi Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts
    H C Fung
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neurodegener Dis 3:327-33. 2006
    ..Several MAPT polymorphisms that define the tau H1 haplotype have been investigated for an association with PD with conflicting results; however, two meta-analyses support an association between haplotype H1 and PD...
  35. ncbi No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found
    Janel Johnson
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 10, Room 6C103, MSC1589, Bethesda, MD 20892, USA
    Neurosci Lett 363:99-101. 2004
    ..We did not find any such mutations...
  36. ncbi Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23
    Alexey Shatunov
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
    Brain 129:2318-31. 2006
    ..Our findings provide evidence for linkage to a novel susceptibility locus on chromosome 6p23. Analysis of additional ET-affected families is needed to confirm linkage and identify the underlying gene...
  37. ncbi Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease
    Omanma Adighibe
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892 3707, USA
    Neurobiol Aging 27:1431-4. 2006
    ..As part of this analysis, we have assessed the NR1H2 gene on chromosome 19 and report here a modest association with the locus in sibpairs with late onset disease...
  38. ncbi Genomewide SNP assay reveals mutations underlying Parkinson disease
    Javier Simon-Sanchez
    Molecular Genetics Unit, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 29:315-22. 2008
    ..All mutations were confirmed by independent gene dosage experiments. These data demonstrate the utility of this approach in the direct detection of mutations that underlie disease...
  39. ncbi The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases
    Dena Hernandez
    Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA
    Neurosci Lett 389:137-9. 2005
    ..The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease...
  40. pmc Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease
    M A Nalls
    Molecular Genetics Section and Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35, Room 1A1014, 35 Convent Drive, Bethesda, MD 20892, USA
    Neurogenetics 10:183-90. 2009
    ..052-0.062). This research suggests a recessive component to the etiology of LOAD...
  41. ncbi Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
    Jennifer C Schymick
    Laboratory of Neurogenetics, National Institute on Aging, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
    Lancet Neurol 6:322-8. 2007
    ..We sought to identify genetic variants associated with an increased or decreased risk for developing ALS in a cohort of American sporadic cases...
  42. pmc Characteristics of frontotemporal dementia patients with a Progranulin mutation
    Edward D Huey
    Cognitive Neuroscience Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1440, USA
    Ann Neurol 60:374-80. 2006
    ..The range of mutations of PGRN that can result in the FTD phenotype and the clinical presentation of patients with PGRN mutations have yet to be determined...
  43. ncbi A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
    M Farrer
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA, Mayo Clinic Scottsdale, 13400 East Shea Boulevard, Scottsdale, AZ 85259, USA
    Hum Mol Genet 8:81-5. 1999
    ..These data demonstrate a new locus for Lewy body parkinsonism and suggest that in some circumstances postural tremor can be an alternative phenotype of the samepathogenic mutation as Lewy body parkinsonism...
  44. ncbi Neurocirculatory and nigrostriatal abnormalities in Parkinson disease from LRRK2 mutation
    D S Goldstein
    Clinical Neurocardiology Section, National Institutes on Neurological Disorders and Stroke, National Institute on Aging, NIH, Bethesda, MD 20892 1620, USA
    Neurology 69:1580-4. 2007
    ..Familial PD caused by mutation of the gene encoding alpha-synuclein or by alpha-synuclein gene triplication also features cardiac sympathetic denervation and baroreflex failure...
  45. ncbi DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
    Sarah Camargos
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Lancet Neurol 7:207-15. 2008
    ..Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations that underlie these diseases may help to shed light on the aetiological processes involved...
  46. ncbi The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics
    John Hardy
    Laboratories of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    Science 297:353-6. 2002
    ..The rest of the disease process, including formation of neurofibrillary tangles containing tau protein, is proposed to result from an imbalance between Abeta production and Abeta clearance...
  47. ncbi Insulin-degrading enzyme haplotypes affect insulin levels but not dementia risk
    Lauren Marlowe
    Laboratorie of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, MD 20892, USA
    Neurodegener Dis 3:320-6. 2006
    ..Insulin-degrading enzyme (IDE) polymorphism is hypothesized to regulate insulin levels as well as processes involved in neuronal compromise found in dementia...
  48. ncbi The tau H2 haplotype is almost exclusively Caucasian in origin
    Whitney Evans
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neurosci Lett 369:183-5. 2004
    ..We discuss this observation in terms of the origin of the H2 haplotype and the epidemiology of the tauopathies...
  49. ncbi The persistence of memory
    Mark R Cookson
    Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA
    N Engl J Med 355:2697-8. 2006
  50. ncbi Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
    Hon Chung Fung
    Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA
    Mov Disord 21:880-1. 2006
    ..The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder...
  51. pmc Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation
    Parastoo Momeni
    Laboratory of Neurogenetics, NIA, NIH Main Campus, Bethesda, MD 20892, USA
    Neurobiol Aging 30:388-93. 2009
    ..Here we present the clinical and pathological features of a new case with this mutation and discuss whether the mutation is indeed pathogenic...
  52. ncbi Torsin A haplotype predisposes to idiopathic dystonia
    Jordi Clarimon
    Laboratory of Neurogenetics, Porter Building, Bethesda, MD, USA
    Ann Neurol 57:765-7. 2005
    ..Here, using a population-based sample of dystonia cases, we show an association with the torsin A haplotype and sporadic idiopathic dystonia...
  53. ncbi Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein in human neuroblastoma cell lines
    Melisa J Baptista
    Laboratory of Neurogenetics, National Institute on Aging NIH, Building 10 Room 6C103, MSC 1589, 9000 Rockville Pike, Bethesda, MD 20892, USA
    J Neurochem 85:957-68. 2003
    ..Reduced expression of the orphan nuclear receptor Nurr1 was also noted, suggesting that the co-ordinate regulation of dopamine synthesis is regulated through this transcription factor...
  54. ncbi Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
    Stephen Hague
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 54:271-4. 2003
    ..This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD...
  55. pmc Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
    Katrina Gwinn
    National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 2:e1254. 2007
    ..This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS...
  56. pmc ABCA1 polymorphisms and Alzheimer's disease
    Fabienne Wavrant-De Vrieze
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Room 1A1015 MSC 3707, Bethesda, MD 20892 3707, USA
    Neurosci Lett 416:180-3. 2007
    ..We show an apparent weak association of rs2230806 (p-value=0.01) with the disease in a sibpair series of Alzheimer's disease that had shown previously evidence for linkage to the chromosome 9 locus where ABCA1 maps...
  57. ncbi The architecture of the tau haplotype block in different ethnicities
    Hon Chung Fung
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Building 35, Room 1A1008, MSC 3707, Bethesda, MD 20892, USA
    Neurosci Lett 377:81-4. 2005
    ..We discuss this observation in terms of the establishment of the haplotype structure and the possible impact of the tau haplotype on neurodegeneration in humans...
  58. pmc Towards a complete resolution of the genetic architecture of disease
    Andrew B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Trends Genet 26:438-42. 2010
    ..Whereas major challenges undoubtedly remain, particularly regarding data handling and the functional classification of variants, we suggest that these will be largely practical and not conceptual...
  59. ncbi Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA
    Melisa J Baptista
    Laboratory of Neurogenetics, National Institute on Aging National Institutes of Health, 9000 Rockville Pike, Building 10, Room 6C103, MSC1589, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Neurosci Lett 343:5-8. 2003
    ..However, both wild type and mutant torsinA were affected to a similar extent, suggesting that this is not related to either disease state or the formation of ER-derived inclusions...
  60. ncbi Toxic proteins in neurodegenerative disease
    J Paul Taylor
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Science 296:1991-5. 2002
    ..Increased understanding of the cellular mechanisms for disposal of abnormal proteins and of the effects of toxic protein accumulation on neuronal survival may allow the development of rational, effective treatment for these disorders...
  61. ncbi Possible association between genetic variability at the apolipoprotein(a) locus and Alzheimer's disease in apolipoprotein E2 carriers
    Danielle Compton
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 331:60-2. 2002
    ..005). We suggest that this polymorphism and others at the Apo(a) locus be further studied in relation to Alzheimer's disease...
  62. ncbi Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion
    David W Miller
    Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg 35, Rm 1A 100, 35 Convent Drive, Bethesda, MD 20892, USA
    Neurosci Lett 374:189-91. 2005
    ..We find there is not and discuss this result in terms of the putative relationships between alpha-synuclein and parkin...
  63. ncbi Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD
    Amanda J Myers
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet B Neuropsychiatr Genet 124:29-37. 2004
    ..Eight polymorphisms spanning the entire gene were examined using case control (CC) and family-based association methods. No association was observed by any method making it unlikely that variation in PLAU explains our linkage data...
  64. pmc A case of dementia with PRNP D178Ncis-129M and no insomnia
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Alzheimer Dis Assoc Disord 23:415-7. 2009
    ..To describe a dementia case clinically diagnosed as Alzheimer disease with a PRNP genotype usually associated with familial fatal insomnia...
  65. ncbi Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease
    Jordi Clarimon
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet B Neuropsychiatr Genet 133:120-3. 2005
    ..In addition to demonstrating that disease in these families is not caused by a single founder mutation, these data show that there is no common fragile site between these mutational events...
  66. pmc TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 3:e2450. 2008
    ..Recently, mutations in TARDBP have been linked to familial and sporadic ALS...
  67. pmc A thorough assessment of benign genetic variability in GRN and MAPT
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 31:E1126-40. 2010
    ..We found sixteen different non-synonymous changes, eleven of which are novel variants...
  68. ncbi Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID)
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, Building 35 Room 1A1010 35 Convent Drive, Bethesda, MD 20892, USA
    Neurobiol Aging 27:778.e1-778.e6. 2006
    ..To determine the molecular genetic contribution to this disease we performed a mutation analysis of all type IV neuronal IF, SOD1 and NUDEL genes in cases of NIFID and unaffected control cases. We found no pathogenic variants...
  69. ncbi Taiwanese cases of SCA2 are derived from a single founder
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA
    Mov Disord 20:1633-6. 2005
    ..In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients...
  70. ncbi Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases
    Rita Joao Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland 20852, USA
    Mov Disord 23:1269-73. 2008
    ....
  71. ncbi Commentary: understanding sources of complexity in chronic diseases--the importance of integration of genetics and epidemiology
    Kathleen Ries Merikangas
    Section on Developmental Genetic Epidemiology, National Institutes of Health, National Institute of Mental Health, 35 Convent Drive, MSC 3720, Bethesda, MD 20892, USA
    Int J Epidemiol 35:590-2; discussion 593-6. 2006
  72. ncbi Genetic testing in Parkinson's disease
    Aideen McInerney-Leo
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20952, USA
    Mov Disord 20:1-10. 2005
    ..We explore the utility, appropriateness, and possible implications of genetic testing for diagnostic and presymptomatic purposes...
  73. ncbi alpha-Synuclein locus triplication causes Parkinson's disease
    A B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    Science 302:841. 2003
  74. pmc The genetics of ischaemic stroke
    M Matarin
    Laboratory of Neurogenetics, NIA NIH, Bethesda, MD, USA
    J Intern Med 267:139-55. 2010
    ..We also briefly discuss genetic testing for stroke risk and genetic analysis of treatment complications...
  75. pmc A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
    A E Baum
    Unit on the Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Disorders Program, US Department of Health and Human Services, National Institute of Mental Health, NIH, Bethesda, MD 20892, USA
    Mol Psychiatry 13:197-207. 2008
    ..This first genome-wide association study of bipolar disorder shows that several genes, each of modest effect, reproducibly influence disease risk. Bipolar disorder may be a polygenic disease...
  76. ncbi Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication
    Amanda Singleton
    Parkinson s Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Brain 127:768-72. 2004
    ..These results indicate that both parkinsonism and cardiac sympathetic denervation can result from an excess of normal synuclein...
  77. pmc Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
    Rita Joao Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Neurobiol Aging 31:725-31. 2010
    ..In some of these mutations, the pathologic consequence is uncertain and needs further investigation. To address this question we propose and use a systematic algorithm to classify the putative pathology of AD mutations...
  78. pmc Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes
    J C Schymick
    Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, Maryland, USA
    J Neurol Neurosurg Psychiatry 78:754-6. 2007
    ..Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD...
  79. pmc GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers
    Eric M Reiman
    Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA
    Neuron 54:713-20. 2007
    ..Our findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and influences Alzheimer's neuropathology...
  80. ncbi Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study
    Maarit Tanskanen
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Ann Med 40:232-9. 2008
    ..Senile systemic amyloidosis (SSA) is characterized by deposition of wild-type transthyretin (TTR)-based amyloid in parenchymal organs in elderly individuals. Previously, no population-based studies have been performed on SSA...
  81. ncbi Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease
    Marian L Hamshere
    Biostatistics and Bioinformatics Unit, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 16:2703-12. 2007
    ..Where samples overlapped, the genotyping consistency was high, estimated to average at 97.3%. Our large-scale linkage analysis consolidates clear evidence for a susceptibility locus for LOAD on 10q21.2...
  82. ncbi Apolipoprotein E4 and tau allele frequencies among Choctaw Indians
    J Neil Henderson
    Department of Health Promotion Sciences, University of Oklahoma, Oklahoma City 73190, USA
    Neurosci Lett 324:77-9. 2002
    ....
  83. ncbi Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein
    Terhi Peuralinna
    Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki, Finland
    Ann Neurol 64:348-52. 2008
    ..These results suggest for the first time that variation of alpha-synuclein modulates neurofibrillary tau pathology and support the recent observations of an interaction of alpha-synuclein and tau in neurodegeneration...
  84. ncbi The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3
    Paul J Lockhart
    Mayo Clinic Jacksonville, Birdsall Building, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Gene 285:229-37. 2002
    ..Sequence analysis of 2p13 linked individuals affected with PD did not reveal any potentially pathogenic mutations within SFXN5, suggesting SFXN5 does not correspond to PARK3...
  85. pmc Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke
    James F Meschia
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Ann Neurol 58:351-61. 2005
    ..There was no evidence of association between variants of ALOX5AP and ischemic stroke. These data suggest that common variants in PDE4D may contribute to the genetic risk for ischemic stroke in multiple populations...
  86. ncbi Complex relationship between Parkin mutations and Parkinson disease
    Andrew West
    Familial Movement Disorders, Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    Am J Med Genet 114:584-91. 2002
    ....
  87. ncbi Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations
    Abraham M Brown
    Burke Medical Research Institute, 785 Mamaroneck Avenue, White Plains, NY 10605, USA
    Neurochem Res 32:857-69. 2007
    ..Finally, minimum sample size calculations using parameters from the DLD locus suggest that sample sizes on the order of 1,000 total cases and controls are needed to detect association for a wide range of genetic model parameters...
  88. ncbi Association of the Tau haplotype with Parkinson's disease in the Greek population
    Liana Fidani
    Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece
    Mov Disord 21:1036-9. 2006
    ....
  89. ncbi CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation
    Leonard Petrucelli
    Mayo Clinic, Jacksonville, FL 32224, USA
    Hum Mol Genet 13:703-14. 2004
    ..Hsp70/CHIP may therefore play an important role in the pathogenesis of tauopathies and also represents a potential therapeutic target...
  90. ncbi Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease
    Victoria Busby
    Department of Neuroscience, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, United Kingdom
    Neuromolecular Med 5:133-46. 2004
    ..None of these SNPs was associated with disease. Although an excellent candidate, we conclude that CTNNA3 is unlikely to account for the AD susceptibility locus on chromosome 10...
  91. ncbi Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations
    Lorraine N Clark
    Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, New York, New York, USA
    Mov Disord 19:796-800. 2004
    ..Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases...
  92. ncbi A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion
    Okan Dogu
    Movement Disorders Unit, Department of Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey
    Mov Disord 19:812-6. 2004
    ..To explore the importance of parkin in those of Turkish ancestry, we studied familial cases from that country, and identified a consanguineous family with early-onset Parkinson's disease due to a homozygous mutation in parkin...
  93. pmc Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family
    Yonghong Li
    Celera Diagnostics, Alameda, CA 94502, USA
    Proc Natl Acad Sci U S A 101:15688-93. 2004
    ..Our observations raise the possibility that GAPD genes are AD risk factors, a hypothesis that is consistent with the role of GAPD in neuronal apoptosis...
  94. ncbi G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
    Jose Miguel Bras
    Neurology Service, Coimbra University Hospital, Coimbra, Portugal
    Mov Disord 20:1653-5. 2005
    ..Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice...
  95. ncbi Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease
    Yonghong Li
    Celera Diagnostics, Alameda, California 94502, USA
    Hum Mutat 25:270-7. 2005
    ..43 [95% CI: 1.61-3.67]; OR(het)=2.15 [95% CI: 1.46-3.17]; P=0.00006) in the combined sample set. Our data raise the possibility that genetic variations in APBB2 may affect LOAD susceptibility...
  96. ncbi SCA2 may present as levodopa-responsive parkinsonism
    Haydeh Payami
    Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA
    Mov Disord 18:425-9. 2003
    ..The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism...
  97. ncbi Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease
    Debomoy K Lahiri
    Department of Psychiatry, Institute of Psychiatric Research, Indiana University School of Medicine, 791 N Union Drive, Indianapolis, IN 46202, USA
    Neurobiol Aging 26:1329-41. 2005
    ..Characterization of the activity of a regulatory polymorphism of the APP gene points towards understanding mechanisms that likely underlie the majority of AD cases and may contribute to promoter-based drug design...
  98. ncbi Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
    Ruey Meei Wu
    Department of Neurology, College of Medicine, National Taiwan University, and National Taiwan University Hospital, Taipei, Taiwan, Republic of China
    Mov Disord 17:670-5. 2002
    ..Furthermore, mRNA analyses identified aberrantly spliced parkin transcripts, suggesting that unusual parkin protein isoforms may be expressed in the brain and retain some function...
  99. ncbi The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease
    Rohan de Silva
    Reta Lila Weston Institute of Neurological Studies, Royal Free and University College Medical School, London, UK
    Neurosci Lett 330:201-3. 2002
    ....
  100. ncbi An association study of a functional catalase gene polymorphism, -262C-->T, and patients with Alzheimer's disease
    Antonis Goulas
    Department of Pharmacology, School of Medicine, Aristotle University, Thessaloniki 54124, Greece
    Neurosci Lett 330:210-3. 2002
    ..No significant difference has emerged from the comparison of either genotype or allele frequencies (P>0.5). We conclude that the catalase gene -262C-->T polymorphism does not confer a protective effect with respect to AD...
  101. ncbi Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons
    Leonard Petrucelli
    Neurogenetics Laboratory, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
    Neuron 36:1007-19. 2002
    ..Therefore, parkin and alpha-synuclein are linked by common effects on a pathway associated with selective cell death in catecholaminergic neurons...