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Genomes and Genes | Ian R MackenzieSummaryAffiliation: University of British Columbia Country: Canada Publications
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Publications
Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic casesIan 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....- The neuropathology and clinical phenotype of FTD with progranulin mutationsIan 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... - Progranulin: normal function and role in neurodegenerationJason 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... 
Evolutionary concepts in biobanking - the BC BioLibraryPeter 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...
FET proteins in frontotemporal dementia and amyotrophic lateral sclerosisIan 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...- Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9pGing Yuek R Hsiung
Division of Neurology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada
Brain 135:709-22. 2012.... - Progranulin in frontotemporal lobar degeneration and neuroinflammationZeshan Ahmed
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
J Neuroinflammation 4:7. 2007.... - The neuropathology of FTD associated With ALSIan 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... - Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutationsIan 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... - Distinct pathological subtypes of FTLD-FUSIan 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... - The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementiaIan 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... - Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutationIan 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... - The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developmentsIan 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... - Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusionsIan 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... - Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43Ian 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.... - The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin geneIan 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... - Familial frontotemporal dementia with neuronal intranuclear inclusions is not a polyglutamine expansion diseaseIan 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... - Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrumIan 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... - Extrapyramidal features in patients with motor neuron disease and dementia; a clinicopathological correlative studyIan 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... - Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosisEdward 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... - A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17Ian R Mackenzie
Department of Pathology, University of British Columbia, Vancouver, Canada
Brain 129:853-67. 2006.... - Sterol regulatory element binding protein-1 (SREBP1) activation in motor neurons in excitotoxicity and amyotrophic lateral sclerosis (ALS): Indip, a potential therapeutic peptideChangiz 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... - Progranulin deficiency decreases gross neural connectivity but enhances transmission at individual synapsesLucia 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... - The relationship between extramotor ubiquitin-immunoreactive neuronal inclusions and dementia in motor neuron diseaseIan 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... - Clinical presentation of prodromal frontotemporal dementiaBradley J Hallam
Division of Neurology, Geriatric Psychiatry Outreach Team, Vancouver Hospital, Vancouver, British Columbia
Am J Alzheimers Dis Other Demen 22:456-67. 2007.... - Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic casesIan R A Mackenzie
Department of Pathology, University of British Columbia, Vancouver, Canada
Dement Geriatr Cogn Disord 17:333-6. 2004.... - Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotypeIan R A Mackenzie
Department of Pathology, Vancouver General Hospital, V5Z 1M9, Vancouver, BC, Canada
Acta Neuropathol 112:539-49. 2006.... - Testicular degeneration in Huntington diseaseJeremy 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... - Dementia lacking distinctive histology (DLDH) revisitedIan R A Mackenzie
Department of Pathology, Vancouver General Hospital, Vancouver, BC, Canada
Acta Neuropathol (Berl) 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... - The neuropathology and biochemistry of frontotemporal dementiaDavid G Munoz
Department of Pathology, University of Western Ontario, London, Ontario, Canada
Ann Neurol 54:S24-8. 2003 - Optic nerve sheath meningiomasPeerooz 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..Management therefore should be conservative in most cases. Radiotherapy is indicated in patients with progressive visual deterioration. Surgery, when indicated, should be an en bloc excision... - 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... - A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3Ida Elisabeth Holm
Department of Pathology, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark
J Neuropathol Exp Neurol 66:884-91. 2007.... - TDP-43-negative FTLD-U is a significant new clinico-pathological subtype of FTLDSigrun 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... - TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusionsNigel 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.... - Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43Yvonne 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... - alpha-Internexin aggregates are abundant in neuronal intermediate filament inclusion disease (NIFID) but rare in other neurodegenerative diseasesNigel 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... - alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion diseaseNigel 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... - Clinical phenotypes of Cerebral Amyloid AngiopathyLuis 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... - Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar DegenerationNigel 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... - Superficial siderosis: a potential diagnostic marker of cerebral amyloid angiopathy in Alzheimer diseaseHoward H Feldman
Stroke 39:2894-7. 2008..Two had neuropathological examination confirming superficial siderosis, AD, and CAA. CONCLUSIONS: Superficial siderosis should be recognized within the spectrum of AD with CAA and considered as a possible antemortem diagnostic feature...