A5023760698- Polyomavirus and related diseases
- Prion Diseases and Protein Misfolding
- Multiple Sclerosis Research Studies
- Parvovirus B19 Infection Studies
- Infectious Encephalopathies and Encephalitis
- Glioma Diagnosis and Treatment
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Meningioma and schwannoma management
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
- Cerebrospinal fluid and hydrocephalus
- Alzheimer's disease research and treatments
- Full-Duplex Wireless Communications
- Optical Imaging and Spectroscopy Techniques
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurogenetic and Muscular Disorders Research
- Chromatin Remodeling and Cancer
- Neonatal and fetal brain pathology
- Syphilis Diagnosis and Treatment
- Neurofibromatosis and Schwannoma Cases
- Endoplasmic Reticulum Stress and Disease
- Vascular Malformations Diagnosis and Treatment
- Head and Neck Surgical Oncology
University of Calgary
2014-2025
Allen Institute for Brain Science
2025
Institute of Genetics and Cancer
2023
University of Edinburgh
2023
Alberta Health Services
2017-2022
Foothills Medical Centre
2010-2021
Calgary Laboratory Services
2011-2018
South Health Campus
2013
Hôpital de l'Enfant-Jésus
2013
St. Michael's Hospital
2013
Periventricular heterotopia (PH) is a disorder characterized by neuronal nodules, ectopically positioned along the lateral ventricles of cerebral cortex. Mutations in either two human genes, Filamin A (FLNA) or ADP-ribosylation factor guanine exchange 2 (ARFGEF2) , cause PH (Fox et al. ‘Mutations filamin 1 prevent migration cortical neurons periventricular heterotopia'. Neuron,21, 1315–1325, 1998; Sheen al . ARFGEF2 implicate vesicle trafficking neural progenitor proliferation and cortex'....
The molecular composition of myelin membranes determines their structure and function. Even minute changes to the biochemical balance can have profound consequences for axonal conduction synchronicity neural networks. Hypothesizing that earliest indication injury involves in and/or polarity its constituent lipids, we developed a sensitive spectroscopic technique defining chemical lipids fixed frozen tissue sections from rodent human. method uses simple staining procedure involving lipophilic...
Objective Peroxisome injury occurs in the central nervous system (CNS) during multiple virus infections that result neurological disabilities. We investigated host neuroimmune responses and peroxisome biogenesis factors severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection using a multiplatform strategy. Methods Brain tissues from disease 2019 (COVID‐19) (n = 12) other control (ODC) patients, as well primary human neural cells Syrian hamsters, infected with clinical variant...
Human polyomaviruses include JC virus, which can cause progressive multifocal leukoencephalopathy, and BK severe allograft dysfunction in renal-transplant recipients. This report describes a recipient whom disseminated virus infection with vascular tropism developed, resulting systemic vasculopathy, the capillary leak syndrome, death.
Progressive multifocal leukoencephalopathy (PML) occurs most often in immunosuppressed individuals. The lesions of PML result from astrocyte and oligodendrocyte infection by the polyomavirus JC (JCV); JCV has also been shown to infect destroy cerebellar granule cell neurons (GCNs) 2 human immunodeficiency virus (HIV)-positive patients. To determine prevalence pattern GCNs, we immunostained formalin-fixed paraffin-embedded samples 40 HIV-positive 3 HIV-negative patients for JCV, glial...
As an extension of the brain, spinal cord has unique properties which could allow us to gain a better understanding CNS pathology. The brain and share same cellular components, yet latter is simpler in cytoarchitecture connectivity. In Alzheimer's research, virtually all focus on pathology, however it been shown that transgenic mouse models accumulate beta amyloid plaques cord, suggesting possesses molecular machinery conditions for plaque formation. Here we report spatial-temporal map load...
Abstract Cholinergic neurons of the basal forebrain (BFCN) are selectively vulnerable in neurodegenerative disorders elderly, particularly Alzheimer's disease (AD). We investigated age‐related changes BFCN that may serve as a substrate for this vulnerability. report substantial and selective loss calcium binding protein calbindin‐D 28K (CB) from human BFCN. Unbiased stereological estimation indicated that, individuals under age 65 years, 72% choline acetyltransferase (ChAT)‐positive...
Pathological mechanisms contributing to Alzheimer's disease (AD) are still elusive. Here, we identified the metabolic signatures of AD in human post-mortem brains. Using 1H NMR spectroscopy and an untargeted metabolomics approach, (1) metabolomic profiles age-matched healthy subjects brain tissue, (2) region-common region-unique metabolome alterations biochemical pathways across eight regions revealed that BA9 was most affected. Phenylalanine phosphorylcholine were mainly downregulated,...
Pathogenic variants in the mitochondrial protein MFN2 are typically associated with a peripheral neuropathy phenotype, but can also cause variety of additional pathologies including myopathy. Here, we identified an uncharacterized variant, Q367H, patient diagnosed late-onset distal myopathy, without neuropathy. Supporting hypothesis that this variant contributes to patient’s pathology, fibroblasts and transdifferentiated myoblasts showed changes consistent impairment several functions. We...
Abstract Whether or not neuropsychiatric symptoms (NPS) in advance of dementia are associated with Alzheimer disease (AD) and/or other neurodegenerative dementias remains to be determined. The mild behavioural impairment (MBI) construct selects persons NPS that later-life emergent and persistent identify a high-risk group for cognitive decline incident dementia. Here, older adults without at baseline, we examined whether postmortem AD pathologies were MBI the five years before death....
We have identified a gene that encodes the polypeptide cytochrome b in avian malarial parasite Plasmodium gallinaceum. The containing open reading frame was found to be located on 6.2-kilobase multimeric extrachromosomal element. amino acid translation from this demonstrated significant similarities sequences yeast, mammal, and fungus genomes. present evidence P. gallinaceum transcript is part of larger primary element subsequently processed. message for 1.2 kilobases size. This first report...
Shaken baby syndrome (SBS) is routinely diagnosed on the basis of a classic triad autopsy findings, namely retinal hemorrhage, subdural and anoxic encephalopathy. However, ongoing controversy exists regarding specificity potential causes these signs, hence their reliability as de facto markers SBS, or non-accidental head injury, where no external signs trauma are evident. We investigated deaths 35 infants young children, which fell into two broad groups: those with suspected...
To determine the variability of BK virus (BKV) in vivo , sequences nine full-length molecular clones from striated muscle and heart DNA a patient with BKV-associated capillary leak syndrome (BKV CAP ), as well three each urine one human immunodeficiency type 2-positive HI ) healthy control subject HC were analysed. The regulatory region all corresponded to archetypal usually found isolates. Analysis predicted conformation BKV proteins did not suggest any structural differences on surface...
We have identified a conserved, repeated, and highly transcribed DNA element from the avian malarial parasite Plasmodium gallinaceum. The produced multiple transcripts in both zygotes asexual blood stages of this parasite. It was found to be conserved all five species tested hybridized at reduced stringency other members phylum Apicomplexa, including genera Babesia, Eimeria, Toxoplasma, Theileria. copy number about 15, it had circularly permuted restriction map with repeat unit length 6.2...
Abstract Huntington's disease like‐2 (HDL‐2) neurodegeneration is a recently described autosomal dominant disorder with features similar to (HD). Only one case report has neuropathology from an affected patient. We describe the clinical presentation and illustrate pathology in two additional molecularly confirmed patients, compare these previously published case, contrast them HD. examined patients HDL‐2. Their charts were reviewed, their brains using standard techniques, including...
<h3>Objective</h3> To evaluate the effects of allogeneic hematopoietic stem cell transplantation (allo-HSCT) on brains persons with and without multiple sclerosis (MS) by means postmortem histopathological examination. <h3>Design</h3> Postmortem histopathology, case studies, case-control studies. <h3>Patients</h3> Four patients MS who died at a median 4.5 months (range, 3-9 months) after allo-HSCT for concomitant hematologic malignant neoplasm; 5 10.0 (1-29 allo-HSCT; control subjects did...
Abstract Background Amyotrophic lateral sclerosis (ALS) is a disabling and rapidly progressive neurodegenerative disorder. Increasing age an important risk factor for developing ALS, thus the societal impact of this devastating disease will become more profound as population ages. A significant hurdle to finding effective treatment has been inability accurately quantify cerebral degeneration associated with ALS in humans. Advanced magnetic resonance imaging (MRI) techniques hold promise...
Despite significant steps in our understanding of Alzheimer's disease (AD), many the molecular processes underlying its pathogenesis remain largely unknown. Here, we focus on role non-coding RNAs produced by small interspersed nuclear elements (SINEs). from SINE B2 repeats mouse and Alu humans, long regarded as "junk" DNA, control gene expression binding RNA polymerase II suppressing transcription. They also possess self-cleaving activity that is accelerated through their interaction with...
Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function brainstem cerebellum. The rarity genetic heterogeneity this can make molecular diagnosis challenging. We report 3 siblings who were born to nonconsanguineous parents, hypotonic at birth, developed seizures, had repeated apneic spells, died within 2 months life. Neuroimaging showed that all profound cerebellar simplified cortical gyration. Genetic analysis by...
To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication hydrophobic region (HR), was inserted into wild type mouse PrP gene. Transgenic (Tg) lines expressing this mutation (Tg.HRdup) developed spontaneous neurologic syndromes and brain extracts hastened disease low-expressor Tg.HRdup mice, suggesting de novo formation of prions. While mice exhibited spongiform change, aggregates anticipated GSS hallmark...