Dominic B. Rowe
A5026748817- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Neuroinflammation and Neurodegeneration Mechanisms
- Alzheimer's disease research and treatments
- Nuclear Receptors and Signaling
- Cancer-related gene regulation
- RNA regulation and disease
- Advanced MRI Techniques and Applications
- Cholinesterase and Neurodegenerative Diseases
- RNA Research and Splicing
- Epigenetics and DNA Methylation
- Functional Brain Connectivity Studies
- Advanced Neuroimaging Techniques and Applications
- Botulinum Toxin and Related Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Nerve injury and regeneration
- Trace Elements in Health
- Genomics and Rare Diseases
- Prion Diseases and Protein Misfolding
- melanin and skin pigmentation
- Genetic Associations and Epidemiology
Macquarie University
2016-2025
Marquette University
2024
Illumina (United States)
2021
Neuroscience Institute
2021
King's College London
2020-2021
University of Cincinnati
2013
Royal North Shore Hospital
2002-2011
North Shore Hospital
1991-2011
The University of Sydney
1986-2010
IE University
2010
Parkinson's disease (PD) is characterized by a profound loss of dopaminergic neurons in the substantia nigra, accompanied chronic neuroinflammation, mitochondrial dysfunction, and widespread accumulation α-synuclein-rich protein aggregates form Lewy bodies. However, mechanisms linking α-synuclein pathology neuronal death to microglial neuroinflammation have not been completely elucidated. We show that activation NLR family pyrin domain containing 3 (NLRP3) inflammasome common pathway...
<h3>Importance</h3> We observed a significant correlation between cerebrospinal fluid (CSF) levels of tau proteins and α-synuclein, but not β-amyloid 1-42 (Aβ1-42), lower concentration CSF biomarkers, as compared with healthy controls, in cohort entirely untreated patients Parkinson disease (PD) at the earliest stage studied so far. <h3>Objective</h3> To evaluate baseline characteristics relationship to clinical features biomarkers (Aβ1-42, total [T-tau], phosphorylated threonine 181...
The pathogenesis of idiopathic Parkinson's disease is unknown, but nigral degeneration and depigmentation are associated with microglial inflammation anti-inflammatory medications appear to protect against the disease. possibility that humoral immunity may play a role in initiating or regulating has been suggested by experimental studies triggering dopamine cell death using variety transfer strategies observation CD8+ T lymphocytes complement nigra We analysed association between immune...
Abstract Activating mutations in leucine-rich repeat kinase 2 (LRRK2) are strongly associated with increased risk of Parkinson’s disease (PD). Thus, LRRK2 inhibitors development as potential therapeutics. A reduction the constitutive levels phosphorylation on is currently used to measure target engagement cell and animal models. We aimed determine if reduced following inhibitor treatment also a valid peripheral mononuclear cells from patients. Peripheral idiopathic patients controls were...
Microglial activation and oxidative stress are significant components of the pathology Parkinson9s disease (PD), but their exact contributions to pathogenesis unclear. We have developed an <i>in vitro</i> model nigral injury, in which lipopolysaccharide-induced microglial leads injury a dopaminergic cell line (MES 23.5 cells) neurons primary mesencephalic cultures. The microglia also activated by PD IgGs presence low-dose dopa-quinone- or H<sub>2</sub>O<sub>2</sub>-modified membranes not...
To analyze longitudinal levels of CSF biomarkers in drug-naive patients with Parkinson disease (PD) and healthy controls (HC), examine the extent to which these biomarker changes relate clinical measures PD, identify what may influence them.CSF α-synuclein (α-syn), total phosphorylated tau (t- p-tau), β-amyloid 1-42 (Aβ42) were measured at baseline 6 12 months 173 PD 112 matched HC international multicenter Parkinson's Progression Marker Initiative. Baseline demographic variables,...
Abstract We have previously shown higher-than-expected rates of schizophrenia in relatives patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate genetic ALS and using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, estimate correlation to be 14.3% (7.05–21.6; P =1 × 10 −4 ) polygenic risk scores explaining up 0.12% variance ( =8.4 −7 ). A...
Background: Neuroinflammation and human endogenous retroviruses (HERV) are thought to have a role in the pathophysiology of amyotrophic lateral sclerosis (ALS). Therapy directed against has demonstrated positive effects during vitro biomarker studies. Consequently, present study was undertaken assess safety tolerability long-term antiretroviral therapy (ART), Triumeq (abacavir, lamivudine, dolutegravir) exposure patients with ALS, efficacy biomarkers disease progression. Methods: Patients...
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with phenotypic and genetic heterogeneity. Approximately 10% of cases are familial, while remaining classified as sporadic. To date, >30 genes several hundred variants have been implicated in ALS. Methods Seven fifty-seven sporadic ALS were recruited from Australian neurology clinics. Detailed clinical data whole genome sequencing (WGS) available 567 616 cases, respectively, which 426 had both datasets...
Abstract Background Non-invasive ventilation (NIV) uses positive pressure to assist people with respiratory muscle weakness or severe compromise breathe. Most use this treatment during sleep when breathing is most susceptible instability. The benefits of using NIV in motor neurone disease (MND) are well-established. However, uptake and usage low (~ 19%) there no consensus on how best implement MND Australia. Consequently, clinical practice models highly variable. Our team has recently...
<h3>Background</h3> Selective olfactory deficits occur in 70% to 90% of patients with Parkinson disease, independent disease severity and duration. Olfactory testing may be a useful diagnostic aid for but the types odors most commonly affected need identified. <h3>Objective</h3> To determine pattern by means University Pennsylvania 12-item Brief Smell Identification Test (B-SIT; Sensonics, Inc, Haddon Heights, NJ). <h3>Design</h3> Testing control subjects 5 movement disorder clinics....
Abstract Background We aimed to determine if peripheral or central inflammatory cytokines are altered in healthy subjects carrying a leucine‐rich repeat kinase 2 ( LRRK2 ) G2019S mutation, and thus genetically at risk of Parkinson's disease (PD). also identify differences between G2019S‐associated idiopathic PD once the manifests. Methods Participants were screened phenotyped, biological samples collected stored by Michael J. Fox Foundation Cohort Consortium. Serum matching clinical data...
Amyotrophic lateral sclerosis ( ALS ) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of cases are hereditary. gene discoveries have provided most our understanding disease pathogenesis. We aimed to describe the genetic landscape in Australia by assessing 1013 Australian patients for known mutations direct sequencing, whole exome sequencing or repeat primed polymerase chain reaction. Age onset duration were used genotype–phenotype correlations....
Objective To capture the clinical patterns, timing of key milestones and survival patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. Methods Data were prospectively collected timed to normal assessments. An initial registration report form (CRF) subsequent ongoing assessment CRFs submitted a completion CRF at time death. Design Prospective observational cohort study. Participants 1834 diagnosis ALS/MND registered followed in clinics...
Abstract Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID patients of Japanese descent. We screened pathologically confirmed European NIID, cases inclusions and applied silico‐based screening using whole‐genome sequencing data from 20 536 participants the 100 000 Genomes Project. single case...
Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), we used ExpansionHunter, REviewer, polymerase chain reaction validation to assess 21 disease-associated whole-genome sequencing data from 608 patients with ALS, 68 FTD, 4703 matched controls. We also propose a data-derived outlier detection method for defining allele thresholds rare...