William S Brooks

Summary

Affiliation: University of New South Wales
Country: Australia

Publications

  1. ncbi request reprint Identification of families with cortical Lewy body disease
    Antony J Harding
    Prince of Wales Medical Research Institute, Barker Street, Randwick, Sydney, NSW 2031, Australia
    Am J Med Genet B Neuropsychiatr Genet 128:118-22. 2004
  2. pmc Association of alleles carried at TNFA -850 and BAT1 -22 with Alzheimer's disease
    Anastazija Gnjec
    Centre of Excellence for Alzheimer s Disease Research and Care, Faculty of Computing, Health and Science, School of Exercise, Biomedical and Health Sciences, Edith Cowan University, Joondalup, 6027, WA, Australia
    J Neuroinflammation 5:36. 2008
  3. ncbi request reprint Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation
    W S Brooks
    Prince of Wales Medical Research Institute, University of New South Wales, Barker Street, Randwick, Sydney, NSW 2031, Australia
    Neurology 63:1613-7. 2004
  4. ncbi request reprint Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions
    William S Brooks
    Centre for Education and Research on Ageing, University of Sydney and Concord Hospital, New South Wales, Australia
    Brain 126:783-91. 2003
  5. ncbi request reprint No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis
    Helena Karlstrom
    Garvan Institute of Medical Research, Sydney, Australia
    Neuroreport 18:1267-9. 2007
  6. ncbi request reprint Variable phenotype of Alzheimer's disease with spastic paraparesis
    Helena Karlstrom
    Garvan Institute of Medical Research, Sydney, Australia, and Karolinska Institutet, Stockholm, Sweden
    J Neurochem 104:573-83. 2008
  7. pmc Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis
    Carol Dobson-Stone
    Neuroscience Research Australia, Barker St, Randwick, Sydney, NSW 2031, Australia
    Acta Neuropathol 125:523-33. 2013
  8. ncbi request reprint Pick bodies in a family with presenilin-1 Alzheimer's disease
    Glenda M Halliday
    Prince of Wales Medical Research Institute and the University of New South Wales, Barker Street, Randwick, Sydney, 2031 NSW, Australia
    Ann Neurol 57:139-43. 2005
  9. ncbi request reprint Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaques
    Claire E Shepherd
    Prince of Wales Medical Research Institute, Randwick, 2031 Sydney, Australia
    Neurobiol Dis 15:115-9. 2004
  10. pmc Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9
    Agnes A Luty
    Prince of Wales Medical Research Institute, Sydney, NSW, Australia
    BMC Neurol 8:32. 2008

Detail Information

Publications31

  1. ncbi request reprint Identification of families with cortical Lewy body disease
    Antony J Harding
    Prince of Wales Medical Research Institute, Barker Street, Randwick, Sydney, NSW 2031, Australia
    Am J Med Genet B Neuropsychiatr Genet 128:118-22. 2004
    ....
  2. pmc Association of alleles carried at TNFA -850 and BAT1 -22 with Alzheimer's disease
    Anastazija Gnjec
    Centre of Excellence for Alzheimer s Disease Research and Care, Faculty of Computing, Health and Science, School of Exercise, Biomedical and Health Sciences, Edith Cowan University, Joondalup, 6027, WA, Australia
    J Neuroinflammation 5:36. 2008
    ..In the current study TNFA and BAT1 promoter polymorphisms were analysed in AD and control cases and BAT1 mRNA levels were investigated in brain tissue from AD and control cases...
  3. ncbi request reprint Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutation
    W S Brooks
    Prince of Wales Medical Research Institute, University of New South Wales, Barker Street, Randwick, Sydney, NSW 2031, Australia
    Neurology 63:1613-7. 2004
    ..The APPAla692Gly (Flemish) mutation was reported in a family in which affected members developed hemorrhagic stroke, progressive dementia, or both...
  4. ncbi request reprint Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions
    William S Brooks
    Centre for Education and Research on Ageing, University of Sydney and Concord Hospital, New South Wales, Australia
    Brain 126:783-91. 2003
    ..As PS-1 mutations are almost always associated with a particularly aggressive form of presenile dementia, these findings suggest the existence of a protective or delaying factor in individuals with spastic paraparesis...
  5. ncbi request reprint No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis
    Helena Karlstrom
    Garvan Institute of Medical Research, Sydney, Australia
    Neuroreport 18:1267-9. 2007
    ..These results suggest a need for a continuing search for genes that cause the phenotypic variation in Alzheimer's disease and spastic paraparesis...
  6. ncbi request reprint Variable phenotype of Alzheimer's disease with spastic paraparesis
    Helena Karlstrom
    Garvan Institute of Medical Research, Sydney, Australia, and Karolinska Institutet, Stockholm, Sweden
    J Neurochem 104:573-83. 2008
    ..Variations in neuropathology and neurological symptoms in PSEN1 AD raise the prospect that modifier genes may underlie this phenotypic heterogeneity...
  7. pmc Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis
    Carol Dobson-Stone
    Neuroscience Research Australia, Barker St, Randwick, Sydney, NSW 2031, Australia
    Acta Neuropathol 125:523-33. 2013
    ..This region overlaps with a separate locus on 16q12.1-q12.2 reported in an independent ALS family, indicating that this region may harbour a second major locus for FTD-ALS...
  8. ncbi request reprint Pick bodies in a family with presenilin-1 Alzheimer's disease
    Glenda M Halliday
    Prince of Wales Medical Research Institute and the University of New South Wales, Barker Street, Randwick, Sydney, 2031 NSW, Australia
    Ann Neurol 57:139-43. 2005
    ..M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism...
  9. ncbi request reprint Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaques
    Claire E Shepherd
    Prince of Wales Medical Research Institute, Randwick, 2031 Sydney, Australia
    Neurobiol Dis 15:115-9. 2004
    ..These findings suggest that PS-1 mutations increase tau deposition while mutation-specific cellular responses determine phosphorylation events and may influence cell death mechanisms...
  10. pmc Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9
    Agnes A Luty
    Prince of Wales Medical Research Institute, Sydney, NSW, Australia
    BMC Neurol 8:32. 2008
    ..The objective in this study is to identify the genetic locus in a multi-generational Australian family with FTLD-MND...
  11. doi request reprint Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease
    Agnes A Luty
    Neuroscience Research Australia, Randwick, Sydney, New South Wales, Australia
    Ann Neurol 68:639-49. 2010
    ..Our objective was to identify the causative gene in an FTLD-MND pedigree with no mutations in known dementia genes...
  12. ncbi request reprint Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies
    Prudence M Stanford
    Garvan Institute for Medical Research, 384 Victoria Street, Sydney, 2010, Australia
    J Neurol 251:1098-104. 2004
    ..Although tauopathies have been considered to result from genetic defects, screening for tau gene mutations in sporadic cases is not likely to identify pathogenic mutations...
  13. ncbi request reprint Anticipation of onset age in familial Parkinson's disease without SCA gene mutations
    Yue Huang
    Prince of Wales Medical Research Institute, University of New South Wales, Barker Street, Randwick, NSW 2031, Australia
    Parkinsonism Relat Disord 12:309-13. 2006
    ....
  14. pmc C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients
    Carol Dobson-Stone
    Neuroscience Research Australia, Sydney, Australia
    PLoS ONE 8:e56899. 2013
    ..However, C9ORF72 allele length does not influence the age at onset of 'non-expansion' FTD patients in the series examined. Expansion of the C9ORF72 allele to as little as ∼65 repeats may be sufficient to cause disease...
  15. ncbi request reprint A model of executive functions in very old community dwellers: evidence from The Sydney Older Persons Study
    Olivier Piguet
    Centre for Education and Research on Ageing of the University of Sydney at Concord Repatriation General Hospital, Sydney, NSW
    Cortex 41:27-37. 2005
    ....
  16. ncbi request reprint Histocompatibility antigens, aspirin use and cognitive performance in non-demented elderly subjects
    C E Shepherd
    Centre for Education and Research on Ageing, The University of Sydney, Sydney, Australia
    J Neuroimmunol 148:178-82. 2004
    ..018), respectively. HLA-DRB1*05 had a negative impact on the Boston naming test (p=0.002). Our results suggest that aspirin use and inflammatory genotype may influence cognition in non-demented subjects...
  17. ncbi request reprint Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia
    Prudence M Stanford
    Garvan Institute of Medical Research, Sydney, NSW, Australia
    Brain 126:814-26. 2003
    ..The increase in tau proteolysis was associated with increased evidence of apoptosis. This mechanism of neurodegeneration may be more applicable to the majority of FTD cases, which do not accumulate insoluble tau deposits...
  18. ncbi request reprint A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease
    W S Brooks
    Centre for Education and Research on Ageing, University of Sydney, NSW, Australia
    Neurosci Lett 199:183-6. 1995
    ..Two other families with autopsy confirmation and age of onset in the fifth decade had no APP mutation and are thought likely to have a mutation on chromosome 14 on the basis of their earlier onset age...
  19. ncbi request reprint 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...
  20. ncbi request reprint Anti-inflammatory drugs protect against Alzheimer disease at low doses
    G A Broe
    Prince of Wales Medical Research Institute, High Street, Randwick 2031, Australia
    Arch Neurol 57:1586-91. 2000
    ..Anti-inflammatory medications have an inverse association with Alzheimer disease (AD)...
  21. ncbi request reprint Variable phenotype of Alzheimer's disease with spastic paraparesis
    M J Smith
    Department of Pathology, The University of Melbourne, New South Wales, Australia
    Ann Neurol 49:125-9. 2001
    ..In SP subjects, dementia onset is delayed and modified. This phenotypic variation suggests that modifying factors are associated with exon 9 deletions...
  22. pmc Similar early clinical presentations in familial and non-familial frontotemporal dementia
    O Piguet
    Prince of Wales Medical Research Institute, Univeristy of New South Wales, Sydney, New South Wales, Australia
    J Neurol Neurosurg Psychiatry 75:1743-5. 2004
    ..It is unclear whether there are early clinical features that can distinguish between patients with familial and non-familial frontotemporal dementia (FTD)...
  23. ncbi request reprint Vascular risk factors, cognition and dementia incidence over 6 years in the Sydney Older Persons Study
    Olivier Piguet
    Centre for Education and Research on Ageing at Concord Repatriation General Hospital, University of Sydney, N S W, Australia
    Neuroepidemiology 22:165-71. 2003
    ..The results indicate that in very old participants, the impact of vascular RFs changes with time and may no longer contribute to the development of dementia and cognitive decline...
  24. ncbi request reprint Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative
    Rosa Rademakers
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Lancet Neurol 6:857-68. 2007
    ..The most common mutation in GRN is Arg493X. We aimed to establish the contribution of this mutation to FTLD and related disorders...
  25. ncbi request reprint Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy
    John B J Kwok
    Garvan Institute of Medical Research, Darlinghurst, Sydney 2010, Australia
    J Biol Chem 278:6748-54. 2003
    ..We postulate that variant plaques observed in this family are due in part to the effects of PS-1deltaexon8 and that interaction between PS-1 and various protein complexes are necessary for neuritic plaque formation...
  26. ncbi request reprint Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease
    Judith Miklossy
    Centre for Neurovirology and Cancer Biology, College of Science and Technology, Temple University, Philadelphia, PA 19122, USA
    Neurobiol Aging 24:655-62. 2003
    ....
  27. ncbi request reprint Mutations in progranulin explain atypical phenotypes with variants in MAPT
    Stuart M Pickering-Brown
    Brain 129:3124-6. 2006
    ..Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17...
  28. ncbi request reprint Association of interleukin-1 polymorphisms with Alzheimer's disease in Australia
    Ross Hedley
    Ann Neurol 51:795-7. 2002
  29. ncbi request reprint Intraneuronal advanced glycation endproducts in presenilin-1 Alzheimer's disease
    Gerald Munch
    Neuroimmunological Cell Biology IZKF, Leipzig, Germany
    Neuroreport 13:601-4. 2002
    ..These conditions of carbonyl stress may contribute to increased neuronal dysfunction and vulnerability leading to the early disease onset...
  30. ncbi request reprint Laboratory results in the elderly: the Sydney Older Persons Study
    Margaret R Janu
    Central Sydney Laboratory Service, Concord Hospital, Concord, NSW 2139, Australia
    Ann Clin Biochem 40:274-9. 2003
    ..The aim of this study was to examine haematological and biochemical profiles in a sample of community-dwelling older people and to study the impact of age, disease, disability and medications...
  31. ncbi request reprint Neuropathology in the S305S tau gene mutation
    Glenda M Halliday
    Brain 129:E40. 2006