William S Brooks
Affiliation: University of New South Wales
- Identification of families with cortical Lewy body diseaseAntony 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....
- Association of alleles carried at TNFA -850 and BAT1 -22 with Alzheimer's diseaseAnastazija 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...
- Hemorrhage is uncommon in new Alzheimer family with Flemish amyloid precursor protein mutationW 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...
- Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletionsWilliam 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...
- No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesisHelena 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...
- Variable phenotype of Alzheimer's disease with spastic paraparesisHelena 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...
- Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysisCarol 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...
- Pick bodies in a family with presenilin-1 Alzheimer's diseaseGlenda 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...
- Positional effects of presenilin-1 mutations on tau phosphorylation in cortical plaquesClaire 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...
- Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9Agnes 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...
- Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron diseaseAgnes 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...
- Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathiesPrudence 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...
- Anticipation of onset age in familial Parkinson's disease without SCA gene mutationsYue 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....
- C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsCarol 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...
- A model of executive functions in very old community dwellers: evidence from The Sydney Older Persons StudyOlivier 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....
- Histocompatibility antigens, aspirin use and cognitive performance in non-demented elderly subjectsC 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...
- Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementiaPrudence 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...
- A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's diseaseW 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...
- 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 phenotypeJ 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...
- Anti-inflammatory drugs protect against Alzheimer disease at low dosesG 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)...
- Variable phenotype of Alzheimer's disease with spastic paraparesisM 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...
- Similar early clinical presentations in familial and non-familial frontotemporal dementiaO 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)...
- Vascular risk factors, cognition and dementia incidence over 6 years in the Sydney Older Persons StudyOlivier 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...
- Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiativeRosa 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...
- Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophyJohn 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...
- Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's diseaseJudith Miklossy
Centre for Neurovirology and Cancer Biology, College of Science and Technology, Temple University, Philadelphia, PA 19122, USA
Neurobiol Aging 24:655-62. 2003....
- Mutations in progranulin explain atypical phenotypes with variants in MAPTStuart 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...
- Association of interleukin-1 polymorphisms with Alzheimer's disease in AustraliaRoss Hedley
Ann Neurol 51:795-7. 2002
- Intraneuronal advanced glycation endproducts in presenilin-1 Alzheimer's diseaseGerald 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...
- Laboratory results in the elderly: the Sydney Older Persons StudyMargaret 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...
- Neuropathology in the S305S tau gene mutationGlenda M Halliday
Brain 129:E40. 2006