Ian R Mackenzie

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, V5Z 1M9, Vancouver, British Columbia, Canada
    Acta Neuropathol 105:543-8. 2003
  2. ncbi The neuropathology and clinical phenotype of FTD with progranulin mutations
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, Canada
    Acta Neuropathol 114:49-54. 2007
  3. ncbi Progranulin: normal function and role in neurodegeneration
    Jason L Eriksen
    Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
    J Neurochem 104:287-97. 2008
  4. pmc Evolutionary concepts in biobanking - the BC BioLibrary
    Peter H Watson
    Tumour Tissue Repository, Deeley Research Centre, BC Cancer Agency, 2410 Lee Ave, Victoria, BC, Canada
    J Transl Med 7:95. 2009
  5. pmc TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    Sruti Rayaprolu
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Mol Neurodegener 8:19. 2013
  6. doi FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, Canada V5Z 1M9
    Brain Res 1462:40-3. 2012
  7. pmc Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
    Ging Yuek R Hsiung
    Division of Neurology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
    Brain 135:709-22. 2012
  8. pmc Progranulin in frontotemporal lobar degeneration and neuroinflammation
    Zeshan Ahmed
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    J Neuroinflammation 4:7. 2007
  9. pmc The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, British Columbia, Canada
    Curr Opin Neurol 21:693-700. 2008
  10. ncbi Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
    Ian R A Mackenzie
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
    Ann Neurol 61:427-34. 2007

Detail Information

Publications48

  1. ncbi Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, V5Z 1M9, Vancouver, British Columbia, Canada
    Acta Neuropathol 105:543-8. 2003
    ....
  2. ncbi The neuropathology and clinical phenotype of FTD with progranulin mutations
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, Canada
    Acta Neuropathol 114:49-54. 2007
    ..This degree of clinical variability makes it difficult to predict which cases of familial FTD will turn out to have a PGRN mutation...
  3. ncbi Progranulin: normal function and role in neurodegeneration
    Jason L Eriksen
    Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
    J Neurochem 104:287-97. 2008
    ..In this review, we discuss current knowledge of the molecular genetics, neuropathology, clinical phenotype and functional aspects of PGRN in the context of neurodegenerative disease...
  4. pmc Evolutionary concepts in biobanking - the BC BioLibrary
    Peter H Watson
    Tumour Tissue Repository, Deeley Research Centre, BC Cancer Agency, 2410 Lee Ave, Victoria, BC, Canada
    J Transl Med 7:95. 2009
    ..Our strategy to enhance both capacity and quality in research biobanking is to create a new framework that repatriates the activity of biospecimen accrual for biobanks to clinical pathology...
  5. pmc TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease
    Sruti Rayaprolu
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
    Mol Neurodegener 8:19. 2013
    ..With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders...
  6. doi FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, Canada V5Z 1M9
    Brain Res 1462:40-3. 2012
    ..This article is part of a Special Issue entitled: RNA-Binding Proteins...
  7. pmc Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
    Ging Yuek R Hsiung
    Division of Neurology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
    Brain 135:709-22. 2012
    ....
  8. pmc Progranulin in frontotemporal lobar degeneration and neuroinflammation
    Zeshan Ahmed
    Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
    J Neuroinflammation 4:7. 2007
    ....
  9. pmc The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, British Columbia, Canada
    Curr Opin Neurol 21:693-700. 2008
    ..We examine current evidence that the transactive response DNA-binding protein (TDP-43) plays a pathogenic role in both amyotrophic lateral sclerosis and frontotemporal dementia...
  10. ncbi Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
    Ian R A Mackenzie
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
    Ann Neurol 61:427-34. 2007
    ..We recently identified TDP-43 as the major pathological protein in sporadic ALS. In this study, we investigated TDP-43 in a larger series of ALS cases (n = 111), including familial cases with and without SOD1 mutations...
  11. pmc Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation
    Ian R A Mackenzie
    Department of Pathology, University of British Columbia and Vancouver General Hospital, Vancouver, BC V5Z 1M9, Canada
    Acta Neuropathol 122:87-98. 2011
    ..Comparison with the neuropathology of cases of frontotemporal lobar degeneration with FUS-ir pathology showed significant differences and suggests that FUS mutations are associated with a distinct pathobiology...
  12. doi Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions
    Ian R A Mackenzie
    Department of Pathology, University of British Columbia, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, British Columbia, V5Z 1M9 Canada
    Brain 131:1282-93. 2008
    ..Moreover, the existence of such cases indicates that the designations of 'FTLD-U' and 'TDP-43 proteinopathy' should not be considered to be synonymous...
  13. ncbi The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, V5Z 1M9, Canada
    Neurogenetics 8:237-48. 2007
    ..It is anticipated that these discoveries will facilitate the development of new diagnostic tests and therapeutics...
  14. doi Distinct pathological subtypes of FTLD-FUS
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, University of British Columbia, BC, Canada
    Acta Neuropathol 121:207-18. 2011
    ..Although cases with overlapping pathology may exist, we recommend retaining the terms aFTLD-U, NIFID and BIBD for specific FTLD-FUS subtypes...
  15. ncbi The neuropathology of FTD associated With ALS
    Ian R A Mackenzie
    Department of Pathology, University of British Columbia and Vancouver General Hospital, British Columbia, Canada
    Alzheimer Dis Assoc Disord 21:S44-9. 2007
    ..Together, these findings suggest that FTD-ALS is part of a clinicopathologic spectrum of disease, now identified as TDP-43 proteinopathies...
  16. ncbi The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene
    Ian R A Mackenzie
    Department of Pathology and Laboratory Medicine, University of British Columbia and Vancouver Coastal Health Vancouver, BC, Canada
    Brain 129:3081-90. 2006
    ..These findings suggest that FTD caused by PGRN mutations has a recognizable pathology with the most characteristic feature being ub-ir NII...
  17. doi Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43
    Ian R A Mackenzie
    Department of Pathology and Laboratory Medicine, University of British Columbia and Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, V5Z 1M9, Canada
    J Mol Neurosci 45:402-8. 2011
    ....
  18. ncbi Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum
    Ian R A Mackenzie
    Division of Neuropathology, University of British Columbia, Vancouver, Canada
    J Neuropathol Exp Neurol 64:730-9. 2005
    ..The only finding restricted to a specific subgroup of patients was the presence of ub-ir neuronal intranuclear inclusions in some cases of familial FTD...
  19. pmc Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion disease
    Ian R Mackenzie
    Department of Pathology, University of British Columbia, Vancouver, BC, Canada
    BMC Neurol 6:32. 2006
    ..The genetic basis of familial FTLD-U is currently not known, however the presence of NII suggests that a subset of cases may represent a polyglutamine expansion disease...
  20. ncbi Extrapyramidal features in patients with motor neuron disease and dementia; a clinicopathological correlative study
    Ian R Mackenzie
    Department of Pathology, Vancouver General Hospital and University of British Columbia, 855 West 12th Avenue, V5Z 1M9, Vancouver, British Columbia, Canada
    Acta Neuropathol 107:336-40. 2004
    ..This study illustrates the utility of ubiquitin immunohistochemistry in demonstrating the range of pathology in MND and provides a neuropathological correlate for the extrapyramidal features which may occur in MND with dementia...
  21. ncbi A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17
    Ian R Mackenzie
    Department of Pathology, University of British Columbia, Vancouver, Canada
    Brain 129:853-67. 2006
    ....
  22. pmc Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosis
    Edward Pokrishevsky
    Brain Research Centre, University of British Columbia, Vancouver, Canada
    PLoS ONE 7:e35050. 2012
    ..In this study, we tested the hypothesis that FUS/TLS and TDP43 gain new pathogenic functions upon aberrant accumulation in the cytosol that directly or indirectly include misfolding of SOD1...
  23. pmc C9ORF72 repeat expansions in cases with previously identified pathogenic mutations
    Marka van Blitterswijk
    From the Departments of Neuroscience M v B, M C B, M D H, M E M, N J R, P E B, T R, B M, P E A A, K F B, L P, D W D, R R and Neurology Z K W, K B B, N R G R, Mayo Clinic, Jacksonville, FL Proteomics Unit and NeuroBioGen Lab Memory Clinic R G, L B, G B, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy Department of Clinical Neurological Sciences E F, M J S, Schulich School of Medicine and Dentistry, The University of Western Ontario, London, Canada Division of Neurology G Y R H, and Department of Pathology and Laboratory Medicine I R M, University of British Columbia, Vancouver, Canada Department of Neurology B J K, D S K, R C P, Healthcare Hawkes Bay
    Neurology 81:1332-41. 2013
    ....
  24. doi Sterol regulatory element binding protein-1 (SREBP1) activation in motor neurons in excitotoxicity and amyotrophic lateral sclerosis (ALS): Indip, a potential therapeutic peptide
    Changiz Taghibiglou
    Brain Research Centre, University of British Columbia, Vancouver, Canada
    Biochem Biophys Res Commun 413:159-63. 2011
    ..Indip or other SREBP1-pathway modulating compounds may prove beneficial in ALS...
  25. pmc Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms
    Leslie I Grad
    Department of Medicine Neurology, University of British Columbia and Vancouver Coastal Health Research Institute, Brain Research Centre, Vancouver, BC, Canada V6T 2B5
    Proc Natl Acad Sci U S A 111:3620-5. 2014
    ..Propagation of HuWtSOD1 misfolding, and its subsequent cell-to-cell transmission, is thus a candidate process for the molecular pathogenesis of SALS, which may provide novel treatment and biomarker targets for this devastating disease. ..
  26. ncbi Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
    Ian R Mackenzie
    Department of Pathology, Vancouver General Hospital, University of British Columbia, Vancouver, Canada
    Acta Neuropathol 126:859-79. 2013
    ..Moreover, our data imply that alterations due to the C9ORF72 mutation resulting in TDP-43 accumulation and dysmetabolism as secondary downstream effects likely play a central role in the neurodegenerative process in C9ORF72 pathogenesis...
  27. pmc Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers
    Claudia Jacova
    From the Division of Neurology, Department of Medicine C J, G Y R H, I T, H L, P S, P B K, A J S, H H F, Department of Physics and Astronomy K D, S M, M G, V S, and Department of Pathology and Laboratory Medicine I R M, University of British Columbia, Vancouver, Canada and Department of Neuroscience M B, R R, Mayo Clinic, Jacksonville, FL
    Neurology 81:1322-31. 2013
    ..In this prospective cohort study, we investigated cerebral glucose metabolism reductions on [(18)F]-fluorodeoxyglucose (FDG)-PET in progranulin (GRN) mutation carriers prior to frontotemporal dementia (FTD) onset...
  28. doi Progranulin deficiency decreases gross neural connectivity but enhances transmission at individual synapses
    Lucia Tapia
    Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
    J Neurosci 31:11126-32. 2011
    ..Our observations show that PGRN knockdown severely alters neuronal connectivity in vitro and that the synaptic vesicle phenotype observed in culture is consistent with that observed in the hippocampus of FTD patients...
  29. doi Clinical presentation of prodromal frontotemporal dementia
    Bradley J Hallam
    Division of Neurology, Geriatric Psychiatry Outreach Team, Vancouver Hospital, Vancouver, British Columbia
    Am J Alzheimers Dis Other Demen 22:456-67. 2007
    ....
  30. ncbi Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases
    Ian R A Mackenzie
    Department of Pathology, University of British Columbia, Vancouver, Canada
    Dement Geriatr Cogn Disord 17:333-6. 2004
    ....
  31. ncbi The relationship between extramotor ubiquitin-immunoreactive neuronal inclusions and dementia in motor neuron disease
    Ian R A Mackenzie
    Department of Pathology, University of British Columbia, Vancouver General Hospital, 855 West 12th Avenue, Canada V5Z 1M9
    Acta Neuropathol 105:98-102. 2003
    ..Such cases may either represent a subclinical stage of pathology or indicate that cognitive dysfunction is an underrecognized complication of MND...
  32. pmc Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, V5Z 1M9, Vancouver, BC, Canada
    Acta Neuropathol 112:539-49. 2006
    ....
  33. ncbi Testicular degeneration in Huntington disease
    Jeremy M Van Raamsdonk
    Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, 950 West 28th Ave, Vancouver, BC, Canada V5Z 4H4
    Neurobiol Dis 26:512-20. 2007
    ..Understanding the pathogenesis of HD in the testis may reveal common critical pathways which lead to degeneration in both the brain and testis...
  34. ncbi Dementia lacking distinctive histology (DLDH) revisited
    Ian R A Mackenzie
    Department of Pathology, Vancouver General Hospital, Vancouver, BC, Canada
    Acta Neuropathol 112:551-9. 2006
    ..Hence, we conclude that DLDH is a very rare disorder, and that lack of sensitivity for UBQ immunostaining is likely responsible for the failure to disclose this pathology and to provide a diagnosis of FTLD-U...
  35. ncbi The neuropathology and biochemistry of frontotemporal dementia
    David G Munoz
    Department of Pathology, University of Western Ontario, London, Ontario, Canada
    Ann Neurol 54:S24-8. 2003
  36. ncbi Optic nerve sheath meningiomas
    Peerooz Saeed
    Department of Ophthalmology, University of British Columbia and the Vancouver General Hospital, 2550 Willow Street, Vancouver, British Columbia, Canada V5Z 3N9
    Ophthalmology 110:2019-30. 2003
    ..To study the natural history and growth of optic nerve sheath meningiomas and evaluate their management outcome...
  37. ncbi A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3
    Ida Elisabeth Holm
    Department of Pathology, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark
    J Neuropathol Exp Neurol 66:884-91. 2007
    ....
  38. ncbi 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...
  39. ncbi Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43
    Yvonne Davidson
    Clinical Neuroscience Research Group, Division of Medicine and Neuroscience, Greater Manchester Neurosciences Centre, Hope Hospital, University of Manchester, Salford, M6 8HD, UK
    Acta Neuropathol 113:521-33. 2007
    ..We conclude that the UBQ-ir lesions of FTLD and MND are defined by the presence of TDP-43, and that these disorders can be subsumed into a single disease entity under the umbrella of TDP-43 proteinopathy...
  40. pmc TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions
    Nigel J Cairns
    MRCPath, Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, St Louis, MO 63110, USA
    Am J Pathol 171:227-40. 2007
    ....
  41. doi TDP-43-negative FTLD-U is a significant new clinico-pathological subtype of FTLD
    Sigrun Roeber
    Center for Neuropathology and Prion Research, Ludwig Maximilians University Munich, Feodor Lynen Str 23, 81377, Munich, Germany
    Acta Neuropathol 116:147-57. 2008
    ..The highly consistent clinical and neuropathological phenotype supports the concept that TDP-43-negative FTLD-U should be considered as a new clinicopathological FTLD entity...
  42. ncbi Clinical phenotypes of Cerebral Amyloid Angiopathy
    Luis F Maia
    Department of Neurology, Hospital Geral Santo Antonio, Porto, Portugal
    J Neurol Sci 257:23-30. 2007
    ..Dementia, cognitive impairment and transient neurological symptoms or signs are also being increasingly recognized as part of the CAA clinical spectrum. This review covers the clinical, pathological and neuroimaging aspects of CAA...
  43. pmc Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration
    Nigel J Cairns
    Department of Neurology, Washington University School of Medicine, Campus Box 8118, 660 South Euclid Avenue, St Louis, MO, 63110, USA
    Acta Neuropathol 114:5-22. 2007
    ..These criteria will be of value to the practicing neuropathologist and provide a foundation for clinical, clinico-pathologic, mechanistic studies and in vivo models of pathogenesis of FTLD...
  44. pmc alpha-Internexin aggregates are abundant in neuronal intermediate filament inclusion disease (NIFID) but rare in other neurodegenerative diseases
    Nigel J Cairns
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, 3600 Spruce Street, Philadelphia, PA 19104 4283, USA
    Acta Neuropathol 108:213-23. 2004
    ..The discovery of alpha-internexin in neuronal cytoplasmic inclusions implicates novel mechanisms of pathogenesis in NIFID and other neurological diseases with pathological filamentous neuronal inclusions...
  45. pmc alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease
    Nigel J Cairns
    Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 4283, USA
    Am J Pathol 164:2153-61. 2004
    ..The discovery of alpha-internexin in the cytoplasmic inclusions implicates novel mechanisms of pathogenesis in NIFID and other neurological diseases with pathological accumulations of IFs...
  46. doi Superficial siderosis: a potential diagnostic marker of cerebral amyloid angiopathy in Alzheimer disease
    Howard H Feldman
    Stroke 39:2894-7. 2008
    ..In cerebral amyloid angiopathy (CAA), there is amyloid deposition in meningeal and meningo-cortical arteries and capillaries, predisposing them to rupture. CAA is frequently associated with Alzheimer disease (AD)...