J Hardy

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi Genetic classification of primary neurodegenerative disease
    J Hardy
    Department of Pharmacology, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
    Science 282:1075-9. 1998
  2. ncbi Neurodegenerative disease: a different view of diagnosis
    J Hardy
    Departments of Pharmacology and Neurology, Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Rd, Jacksonville, FL 32224, USA
    Mol Med Today 5:514-7. 1999
  3. ncbi Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism
    J Hardy
    Mayo Clinic Jacksonville, Florida 32224, USA
    Am J Med Genet 81:166-71. 1998
  4. ncbi Pathways to primary neurodegenerative disease
    J Hardy
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
    Ann N Y Acad Sci 924:29-34. 2000
  5. ncbi Presenilin mutations line up along transmembrane alpha-helices
    J Hardy
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 306:203-5. 2001
  6. 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
  7. ncbi Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP
    J Lewis
    Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Science 293:1487-91. 2001
  8. ncbi A beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease
    D Morgan
    Department of Pharmacology, University of South Florida, Tampa 33612, USA
    Nature 408:982-5. 2000
  9. ncbi Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
    A B West
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, FL 32224, USA
    Eur J Hum Genet 9:659-66. 2001
  10. ncbi Lewy bodies and parkinsonism in families with parkin mutations
    M Farrer
    Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA
    Ann Neurol 50:293-300. 2001

Detail Information

Publications85

  1. ncbi Genetic classification of primary neurodegenerative disease
    J Hardy
    Department of Pharmacology, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
    Science 282:1075-9. 1998
    ..Thus, treatment strategies developed for a particular disease may be found to have efficacy in more than one disorder...
  2. ncbi Neurodegenerative disease: a different view of diagnosis
    J Hardy
    Departments of Pharmacology and Neurology, Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Rd, Jacksonville, FL 32224, USA
    Mol Med Today 5:514-7. 1999
    ..Defining these pathways and, in particular, developing an appreciation of the commonalities between different diseases, should aid in the development of therapies that are effective in several diseases...
  3. ncbi Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism
    J Hardy
    Mayo Clinic Jacksonville, Florida 32224, USA
    Am J Med Genet 81:166-71. 1998
    ..A brief clinical comparison of this family with families showing linkage to these loci is presented. The data suggest that at least one other major genetic determinant for Lewy body parkinsonism remains to be identified...
  4. ncbi Pathways to primary neurodegenerative disease
    J Hardy
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
    Ann N Y Acad Sci 924:29-34. 2000
    ..In this article, this hypothesis is presented in the context of deriving curative treatments for these disorders...
  5. ncbi Presenilin mutations line up along transmembrane alpha-helices
    J Hardy
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 306:203-5. 2001
    ....
  6. 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...
  7. ncbi Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP
    J Lewis
    Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Science 293:1487-91. 2001
    ..The interaction between Abeta and tau pathologies in these mice supports the hypothesis that a similar interaction occurs in Alzheimer's disease...
  8. ncbi A beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease
    D Morgan
    Department of Pharmacology, University of South Florida, Tampa 33612, USA
    Nature 408:982-5. 2000
    ..The A beta-vaccinated mice also had a partial reduction in amyloid burden at the end of the study. This therapeutic approach may thus prevent and, possibly, treat Alzheimer's dementia...
  9. ncbi Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
    A B West
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida, FL 32224, USA
    Eur J Hum Genet 9:659-66. 2001
    ..5 Mb. Analysis of 14 genes within the region did not reveal any potentially pathogenic mutations segregating with the disease, implying that none of these genes are likely candidates for PARK3...
  10. ncbi Lewy bodies and parkinsonism in families with parkin mutations
    M Farrer
    Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA
    Ann Neurol 50:293-300. 2001
    ....
  11. ncbi Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau
    J Hardy
    Neurogenetics and Transgenics Laboratories, Mayo Clinic Jacksonville, Florida 32224, USA
    Nat Neurosci 1:355-8. 1998
    ..These data support are refine the amyloid cascade hypothesis for AD and suggest that understanding the causes and consequences of tau dysfunction is an important priority for dementia research...
  12. ncbi Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family
    K Gwinn-Hardy
    Mayo Clinic Jacksonville, 4500 San Pablo Rd, Jacksonville, FL 32224, USA
    Arch Neurol 58:296-9. 2001
    ..However, classically, atypical features, including pyramidal and cerebellar signs, peripheral neuropathy, and/or anterior horn cell dysfunction, are also seen. Levodopa responsiveness is unusual in this disorder...
  13. ncbi Genetic analysis of synphilin-1 in familial Parkinson's disease
    M Farrer
    Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
    Neurobiol Dis 8:317-23. 2001
    ..However, subsequent haplotype, sequencing, and association analyses in these three families and an independent case-control series suggest that variability within the locus does not confer susceptibility to Parkinson's disease...
  14. ncbi No pathogenic mutations in the beta-synuclein gene in Parkinson's disease
    S Lincoln
    Mayo Clinic Jacksonville, FL 32224, USA
    Neurosci Lett 269:107-9. 1999
    ..Multipoint linkage analysis was either equivocal or excluded 5q35 haplotype sharing among affected family members. Sequencing the translated exons of the beta-synuclein gene failed to identify any pathogenic mutation...
  15. ncbi Cotton wool plaques in non-familial late-onset Alzheimer disease
    T V Le
    Department of Pathology, Mayo Clinic, Jacksonville, Florida 32224, USA
    J Neuropathol Exp Neurol 60:1051-61. 2001
    ..Pyramidal tract degeneration was not a consistent finding or a prominent feature in any case. The results suggest that CWP are not specific for early-onset familial AD with spastic paraparesis...
  16. ncbi Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease
    F Wavrant-DeVrieze
    Mayo Clinic Jacksonville, FL 32224, USA
    Neurosci Lett 227:68-70. 1997
    ..The possible reasons for this discrepancy, linkage disequilibrium or statistical anomaly, are discussed...
  17. ncbi Expression of BRI-amyloid beta peptide fusion proteins: a novel method for specific high-level expression of amyloid beta peptides
    P A Lewis
    Department of Neuroscience and Pharmacology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Biochim Biophys Acta 1537:58-62. 2001
    ..Significantly, expression of Abeta42 from the BRI-Abeta42 construct resulted in no increase in secreted Abeta40, suggesting that the majority of Abeta42 is not trimmed by carboxypeptidase to Abeta40 in the secretory pathway...
  18. ncbi Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p
    K Gwinn-Hardy
    Department of Neurology, Mayo Clinic Jacksonville, FL 32224, USA
    Acta Neuropathol 99:663-72. 2000
    ..We also discuss the relationship of this familial disorder to a Lewy body disease clinical spectrum, ranging from Parkinson's disease to dementia with psychosis...
  19. ncbi Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy
    W K Liu
    Department of Pharmacology, Mayo Clinic Jacksonville, FL 32224, USA
    Ann Neurol 50:494-502. 2001
    ..The H1 haplotype had no effect on the 4R to 3R ratio or on tau and amyloid burdens. In summary, the H1 haplotype does not have a major influence on the pathological or biochemical phenotype of PSP...
  20. ncbi Co-association of parkin and alpha-synuclein
    P Choi
    Department of Pharmacology, Loyola University Medical Center, Bldg 102, Rm 3634, 2160 S 1st Ave, Maywood, IL 60153, USA
    Neuroreport 12:2839-43. 2001
    ..These results suggest that parkin interacts with alpha-synuclein and could contribute to the pathophysiology of PD more generally than was previously considered...
  21. ncbi Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells
    D D Murphy
    Neurogenetics Laboratory, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
    Brain Res Mol Brain Res 97:94-102. 2001
    ..Although these inclusions overlapped with the distribution of alpha-synuclein, they were unlike Lewy bodies in that they were not eosinophilic, and instead were membrane-bound, lipid-rich cytoplasmic inclusions...
  22. ncbi Identification and characterization of the human parkin gene promoter
    A West
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
    J Neurochem 78:1146-52. 2001
    ..The parkin promoter lacks TATA or CAAT boxes and appears to share homology to the alpha-synuclein promoter. Deletion constructs demonstrated core promoter activity and tissue specific enhancing regions in HEK-293T and SH-SY5Y cells...
  23. ncbi A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies
    H Houlden
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 313:93-5. 2001
    ..This mutation causes disease with an exceptionally early onset age (approximately 30 years) in which pathological examination shows extensive Lewy bodies as well as plaques and tangles...
  24. ncbi Parkin-proven disease: common founders but divergent phenotypes
    S Lincoln
    Neurogenetic Laboratories, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 60:1605-10. 2003
    ..To compare and contrast clinical and genetic findings in six probands with parkinsonism with a parkin exon 3 438- to 477-bp deletion (Ex3Delta40) to search for evidence of a common founder...
  25. ncbi The presenilin 1 C92S mutation increases abeta 42 production
    P A Lewis
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
    Biochem Biophys Res Commun 277:261-3. 2000
    ..elegans into a context whereby its effect on mammalian cells can be evaluated suggests that all FAD-linked PS1 mutants result in increased Abeta42 production through a partial loss of function mechanism...
  26. ncbi Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over
    L Myllykangas
    Neurogenetics Laboratory, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Neurosci Lett 292:195-8. 2000
    ..095) towards protection against neuropathologically defined AD. Our study is based on very elderly Finns. Therefore, further studies are warranted in other populations...
  27. ncbi The presenilins and Alzheimer's disease
    M Hutton
    Neurogenetics Laboratory, The Mayo Clinic Jacksonville, FL 32224, USA
    Hum Mol Genet 6:1639-46. 1997
    ....
  28. ncbi Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
    K Gwinn-Hardy
    Departments of Neurology and Pharmacology, Mayo Clinic Jacksonville, FL 32224, USA
    Neurology 55:800-5. 2000
    ..To describe the clinical and molecular genetic analysis of a large family of northern Chinese descent with a mutation at the SCA2 locus causing carbidopa-levodopa-responsive parkinsonism...
  29. ncbi Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein
    J Lewis
    Mayo Clinic Jacksonville, Jacksonville, Florida, USA
    Nat Genet 25:402-5. 2000
    ..The phenotype of mice expressing P301L mutant tau mimics features of human tauopathies and provides a model for investigating the pathogenesis of diseases with NFT...
  30. ncbi Number of Abeta inoculations in APP+PS1 transgenic mice influences antibody titers, microglial activation, and congophilic plaque levels
    D M Wilcock
    Alzheimer's Research Laboratory, Department of Pharmacology, University of South Florida, Tampa, Florida, USA
    DNA Cell Biol 20:731-6. 2001
    ..When data from the mice from all groups were combined, there was a significant correlation between activation of microglia and Congo red levels, suggesting that microglia play a role in the clearance of compact plaque...
  31. ncbi Corticobasal degeneration and frontotemporal dementia presentations in a kindred with nonspecific histopathology
    B F Boeve
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Dement Geriatr Cogn Disord 13:80-90. 2002
    ....
  32. pmc Widespread alterations of alpha-synuclein in multiple system atrophy
    D W Dickson
    Department of Pathology, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
    Am J Pathol 155:1241-51. 1999
    ..These findings provide evidence that modifications of alpha-synuclein in MSA may be more widespread than obvious histopathology. Moreover, these alterations may constitute a biochemical signature for the synucleinopathies...
  33. ncbi Familial frontotemporal dementia associated with a novel presenilin-1 mutation
    D Tang-Wai
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Dement Geriatr Cogn Disord 14:13-21. 2002
    ..Furthermore, presenilin analyses may be helpful to characterize kindreds with familial dementing illnesses regardless of the phenotype, particularly if no tau mutation is present...
  34. ncbi alpha-Synuclein gene haplotypes are associated with Parkinson's disease
    M Farrer
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Hum Mol Genet 10:1847-51. 2001
    ..These genetic findings are analogous to the tau haplotype over-represented in progressive supranuclear palsy and further extend the similarity in the etiologies and pathogeneses of the synucleinopathies and tauopathies...
  35. ncbi Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17
    M Hutton
    Mayo Clinic Jacksonville, Florida 32224, USA
    Nature 393:702-5. 1998
    ..The increase in exon 10+ messenger RNA will increase the proportion of Tau containing four microtubule-binding repeats, which is consistent with the neuropathology described in several families with FTDP-17...
  36. ncbi Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease
    S Lincoln
    Mayo Clinic Jacksonville, FL 32224, USA
    Neuroreport 10:427-9. 1999
    ..These changes are, therefore, unlikely to be pathogenic. We conclude that the I93M variant must either be a rare cause of disease or a harmless substitution whose occurrence in the family reflects a chance co-occurrence...
  37. ncbi alpha-Synuclein shares physical and functional homology with 14-3-3 proteins
    N Ostrerova
    Department of Pharmacology, Loyola University Medical Center, Maywood, Illinois 60153, USA
    J Neurosci 19:5782-91. 1999
    ..The activity and binding profile of alpha-synuclein suggests that it might act as a protein chaperone and that accumulation of alpha-synuclein could contribute to cell death in neurodegenerative diseases...
  38. ncbi A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)
    C B Eckman
    Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Hum Mol Genet 6:2087-9. 1997
    ....
  39. ncbi Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes
    L Holcomb
    Department of Pharmacology, University of South Florida, Tampa 33612, USA
    Nat Med 4:97-100. 1998
    ..This suggests that some aspects of the behavioral phenotype in these mice may be related to an event that precedes plaque formation...
  40. ncbi Feasibility of an affected sibling pair study in ischemic stroke: results of a 2-center family history registry
    J F Meschia
    Department of Neurology, Section of Pharmacology, Mayo Clinic, Jacksonville, Fla, USA
    Stroke 32:2939-41. 2001
    ..CONCLUSIONS: Approximately 10 probands were screened to find 1 potentially concordant living sibling. A concordant sibling pair study should be multicentered and enable enrollment of siblings from diverse geographic areas...
  41. ncbi Contribution of APOE promoter polymorphisms to Alzheimer's disease risk
    J C Lambert
    INSERM U508, Institut Pasteur de Lille, Lille, France
    Neurology 59:59-66. 2002
    ..To determine whether the effects of APOE promoter polymorphisms on AD are independent of the APOE-epsilon4 allele...
  42. ncbi Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation
    A C Bruni
    Regional Neurogenetic Centre, Lamezia Terme, CZ, Italy
    Neurology 69:140-7. 2007
    ..Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN)...
  43. ncbi Increased familial risk and genomewide significant linkage for Alzheimer's disease with psychosis
    P Hollingworth
    Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 144:841-8. 2007
    ..These findings support the hypothesis that psychotic symptoms in AD are genetically modified and that a gene/s implicated in their aetiology may be located on chromosome 7 and 15...
  44. 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...
  45. 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
    ....
  46. ncbi Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: a replication study
    R J Caselli
    Department of Neurology, Mayo Clinic Scottsdale, 13400 East Shea Boulevard, Scottsdale, AZ 85259, USA
    J Neurol Sci 189:93-8. 2001
    ....
  47. 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...
  48. 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...
  49. pmc Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration
    A M Pittman
    Reta Lila Weston Institute of Neurological Studies, University College London, London, UK
    J Med Genet 42:837-46. 2005
    ..The haplotype H1 of the tau gene, MAPT, is highly associated with progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD)...
  50. ncbi Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
    H Houlden
    Department of Neurology, Royal Free Hospital, London, UK
    Neurology 61:1423-6. 2003
    ..The father and two brothers are heterozygous for Met327Thr. One other mutation has been found in this PANK2 region associated with the HARP phenotype, suggesting a local genotype effect...
  51. ncbi Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
    S M Pickering-Brown
    The School of Biological Sciences, Division of Neuroscience, University of Manchester, UK
    Brain 125:732-51. 2002
    ..All eight families with the +16 mutation seem to be part of a common extended pedigree, possibly originating from a founder member residing within the North Wales region of Great Britain...
  52. ncbi A full genome scan for late onset Alzheimer's disease
    P Kehoe
    Neuropsychiatric Genetics Unit, Tenovus Building, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK
    Hum Mol Genet 8:237-45. 1999
    ..Moreover, our data will be of interest to those hoping to identify positional candidate genes using information emerging from neurobiological studies of AD...
  53. ncbi Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene
    M C Chartier-Harlin
    Department of Biochemistry, St Mary s Hospital Medical School, Imperial College, London, UK
    Nature 353:844-6. 1991
    ..The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations...
  54. pmc Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene
    R J Harvey
    Dementia Research Group, The National Hospital for Neurology and Neurosurgery and Imperial College School of Medicine at St Mary s, London, UK
    J Neurol Neurosurg Psychiatry 64:44-9. 1998
    ....
  55. ncbi Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion
    C De Jonghe
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Laboratory of Molecular Genetics, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerpen, Belgium
    Hum Mol Genet 8:1529-40. 1999
    ..Our data indicate that in the case of intron 4 mutation, the AD pathophysiology results from the presence of the PSEN1 T113-114ins protein comparable with cases carrying dominant PSEN1 missense mutations...
  56. ncbi Pick's disease is associated with mutations in the tau gene
    S Pickering-Brown
    Division of Neuroscience, School of Biological Sciences, University of Manchester, UK
    Ann Neurol 48:859-67. 2000
    ..Moreover, these data suggest that Pick's disease is not a separate entity but part of the frontotemporal dementia disease spectrum...
  57. ncbi Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
    J B Kwok
    Garvan Institute of Medical Research, Sydney, NSW, Australia
    Neuroreport 8:1537-42. 1997
    ..In addition, our data suggest that other novel EOFAD loci, in addition to APP and the presenilin genes, are involved in the aetiology of up to 50% of EOFAD cases...
  58. ncbi Inconsistent designs of association studies: a missed opportunity
    T G Schulze
    Mol Psychiatry 8:770-2. 2003
  59. ncbi The BDNF Val66Met polymorphism is not associated with late onset Alzheimer's disease in three case-control samples
    Y Li
    Mol Psychiatry 10:809-10. 2005
  60. ncbi Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
    M Cruts
    Laboratory of Neurogenetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Department of Biochemistry, Antwerpen, Belgium
    Hum Mol Genet 7:43-51. 1998
    ..Further, polymorphisms were detected in the promoter and the 5'-non-coding region of PS -1 and in intronic and exonic sequences of PS -2 that will be useful in genetic association studies...
  61. ncbi An African American family with early-onset Alzheimer disease and an APP (T714I) mutation
    T Edwards-Lee
    Department of Neurology, Harbor UCLA Medical Center, Torrance, USA
    Neurology 64:377-9. 2005
    ..Distinct from that family, seizures and myoclonus were prominent features of the disease in this kindred...
  62. ncbi Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation
    R Crook
    Department of Psychiatry, University of South Florida, Tampa, USA
    Ann Neurol 42:124-8. 1997
    ..The mutation forms part of, and extends, the alpha-helical array of mutations in transmembrane 2 of the presenilins and leads to the suggestion that disruption of this helical face is the molecular insult that leads to disease...
  63. 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...
  64. pmc Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia
    J L Seal
    J Med Genet 43:887-92. 2006
    ..This report, therefore, presents more evidence that schizophrenia susceptibility gene, or genes, may be found on distal 5q...
  65. 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...
  66. 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...
  67. ncbi Familial non-specific dementia maps to chromosome 3
    J Brown
    Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, London, UK
    Hum Mol Genet 4:1625-8. 1995
    ..Like a number of other late onset neurodegenerative diseases, the disease presents at an earlier age when paternally inherited...
  68. ncbi Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population
    L Fidani
    Department of General Biology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece
    Eur J Neurol 14:745-9. 2007
    ....
  69. pmc Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease
    M Martinez
    Unité de Recherche INSERM EMI00 06, Tour Evry 2, 523 Place des Terrasses de l Agora, Evry cedex 91068, France
    J Med Genet 41:900-7. 2004
    ..To undertake a full genome-wide screen for Parkinson's disease susceptibility loci...
  70. ncbi Mild cognitive impairment--beyond controversies, towards a consensus: report of the International Working Group on Mild Cognitive Impairment
    B Winblad
    Division of Geriatric Medicine, Neurotec Department, Karolinska Institutet, 11382 Stockholm, Sweden
    J Intern Med 256:240-6. 2004
    ....
  71. ncbi The genetic and pathological classification of familial frontotemporal dementia
    H R Morris
    Neurogenetics Section, Institute of Neurology, University College London, England
    Arch Neurol 58:1813-6. 2001
    ..Furthermore, these data suggest that there are at least 2 additional genes to be identified among families with autosomal dominant FTD...
  72. ncbi Healthcare utilization and costs in managed care patients with Alzheimer's disease during the last few years of life
    W C McCormick
    Department of Medicine, University of Washington, Seattle, Washington, USA
    J Am Geriatr Soc 49:1156-60. 2001
    ....
  73. ncbi Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype
    H Houlden
    Neurogenetics, Clinical Neurology and Dementia Research Group, Institute of Neurology, London
    Neurology 56:1702-6. 2001
    ..05 > CI 95% > 1.85]). CONCLUSIONS: The CBD tau association described here suggests that PSP and CBD share a similar cause, although the pathogenic mechanism behind the two diseases leads to a different clinical and pathologic phenotype...
  74. ncbi Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease
    R Abraham
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff CF14 4XN, Wales, UK
    Hum Genet 109:646-52. 2001
    ..We conclude that IDE does not make a substantial contribution to the aetiology of LOAD and therefore cannot account for the linkage between LOAD and 10q...
  75. ncbi Prevalence of Alzheimer's disease in very elderly people: a prospective neuropathological study
    T Polvikoski
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Finland
    Neurology 56:1690-6. 2001
    ..The APOE genotype has a strong effect on the prevalence of neuropathologically defined AD, even after 90 years of age...
  76. ncbi Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype
    A Verkkoniemi
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Finland
    J Neuropathol Exp Neurol 60:483-92. 2001
    ....
  77. ncbi An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala)
    P Pasalar
    Department of Biochemistry, Tehran University of Medical Sciences, Iran
    Neurology 58:1574-5. 2002
  78. ncbi A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques
    H Steiner
    Adolf Butenandt-Institute, Department of Biochemistry, Laboratory for Alzheimer's Disease Research, Ludwig-Maximilians-University, 80336 Munich, Germany
    J Biol Chem 276:7233-9. 2001
    ..Since increased Abeta42 production is not associated with classical senile plaque formation, these data demonstrate that amyloid plaque formation is not a prerequisite for dementia and neurodegeneration...
  79. ncbi Analysis of tau haplotypes in Pick's disease
    H R Morris
    Neurogenetics, Institute of Neurology, Reta Lila Weston Institute of Neurological Research, University College London, UK
    Neurology 59:443-5. 2002
    ..There was no difference between the tau H2 haplotype or H2H2 genotype frequency in PiD cases and control subjects. No tau mutations were identified in pathologically typical cases of PiD, with antibody 12-E8-negative Pick bodies...
  80. 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...
  81. ncbi The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease
    B S Harhangi
    Department of Epidemiology and Biostatistics, Erasmus University Medical School, Rotterdam, The Netherlands
    Neurosci Lett 270:1-4. 1999
    ..We conclude that the UCH-L1 gene is not a major gene responsible for familial PD...
  82. ncbi Framing beta-amyloid
    J Hardy
    Nat Genet 1:233-4. 1992
  83. ncbi Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD
    J Eerola
    Department of Neurology, Helsinki University Central Hospital and University of Helsinki, Biomedicum Helsinki, Neuroscience Programme, Finland
    Neurology 61:1000-2. 2003
    ..168_185del) within exon 1 of DJ-1 contributes to the risk of sporadic PD in a Finnish case-control series. This gene does not play a major role in the genetic predisposition to PD in this population...
  84. 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
  85. 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...