Richard Boyle

Brisbane Private Hospital, Brisbane, Queensland, Australia

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Publications (34)114.55 Total impact

  • No preview · Article · Mar 2015 · Brain Stimulation
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    ABSTRACT: It is currently hypothesised that a combination of genetic and environmental factors underlies the development of idiopathic isolated dystonia (IID). In this study, we examined several possible environmental or other non-genetic factors that may influence the risk for IID in Queensland, Australia. We surveyed several environmental exposures, lifestyle factors, medical and family histories to investigate potential risk factors for IID. Associations between putative risk factors and IID were assessed using a total of 184 dystonia patients and 1048 neurologically-normal control subjects sampled from Queensland between 2005 and 2012. Our analyses revealed that anxiety disorders, depression, tremor, cigarette smoking and head injuries with a loss of consciousness were associated with increased risk for IID (p < 0.05), all of which remained statistically significant following an adjustment for multiple hypothesis testing except for depression. We also observed that the risk for dystonia increased with higher cigarette smoking pack-year quartiles in our analyses. Our results suggest possible environmental factors that influence the development of IID and complement the findings of similar dystonia risk factor studies. Further investigation defining the environmental and other non-genetic risk factors for IID may provide insight into the development of the disorder in genetically-susceptible individuals.
    No preview · Article · Dec 2014 · Journal of Clinical Neuroscience

  • No preview · Article · Apr 2014
  • Alexander Lehn · George Mellick · Richard Boyle
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    ABSTRACT: Idiopathic-isolated focal dystonia (IIFD) is a movement disorder characterised by involuntary, sustained muscle contractions, leading to abnormal postures. Psychopathology is frequent in patients with IIFD, and while traditionally this was thought to be a secondary phenomenon, there is emerging evidence for shared neurobiological mechanisms. We conducted a single-centre cross-sectional study of 103 consecutive patients with IIFD and two comparison groups: 78 consecutive patients with hemifacial spasm (HFS) and 93 healthy control subjects. Assessments with regard to psychiatric disturbances were performed using self-report questionnaires, including the self-report version of the Yale-Brown Obsessive Compulsive Scale (Y-BOCS-SR), the Beck Anxiety Inventory (BAI), and the Beck Depression Inventory (BDI). Compared to healthy control subjects and patients with HFS, the IIFD group had higher OCS, anxiety, and depression scores as measured by the Y-BOCS-SR, BAI, and BDI, respectively. The Y-BOCS-SR, BAI, and BDI were highly correlated across all the subjects. Logistic regression analysis showed that the main driver of high obsessive-compulsive symptom scores, irrespective of neurological diagnosis, was the BDI, whereas it was BAI (and not BDI), that drives the association between the psychiatric rating scale scores and the neurological diagnosis. Our findings suggest that while clinically significant obsessive-compulsive symptoms are over-represented in IIFD patients relative to controls, the BAI may have better discriminatory power to distinguish between the psychiatric symptoms in IIFD patients.
    No preview · Article · Jan 2014 · Journal of Neurology

  • No preview · Article · Oct 2013 · Movement Disorders
  • Sasha Dionisio · Helen Brown · Richard Boyle · Stefa Blum
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    ABSTRACT: Seizures are a commonly encountered medical problem. Seizure protocols have been shown to be effective by avoiding inappropriate over- and under treatment, but are not presently utilized in many centres in Australia. We outline a stepwise approach to effective seizure management based on timely investigation and escalating treatment with an appropriate choice of medications. Because large-scale clinical trials are lacking, we base our approach on the underlying seizure pathophysiology and the pharmacological properties of the available drugs. Early management consists of finding and correcting possible reversible causes and ensuring patient safety. With ongoing seizure length spontaneous resolution becomes unlikely, necessitating administration of anti-epileptic drugs. Benzodiazepines are the agents of first choice, with a preference of short-acting drugs. With ongoing seizures other agents (i.e. valproate, levetiracetam, phenobarbitone, phenytoin) are utilized. Refractory status epilepticus requires aggressive treatment in an intensive care setting. Novel approaches and agents, including ketamine, topiramate, lacosamide, pregabalin and intravenous immunoglobulins are discussed. We provide our own recently developed hospital protocol as a guide. This protocol relies on a time based 4-step escalating approach to seizure management, ranging from supportive management of the initial simple seizure, to the use of multiple agents for established status epilepticus.
    No preview · Article · Apr 2013 · Internal Medicine Journal
  • Alexander Lehn · Caroline Airey · Richard Boyle

    No preview · Article · Mar 2013
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    ABSTRACT: Neuroferritinopathy is an autosomal dominantly inherited disorder caused by mutations in the gene encoding the ferritin light chain polypeptide. It leads to iron deposition particularly in the cerebellum, basal ganglia and motor cortex. The disease becomes clinically apparent in adulthood mainly with extrapyramidal signs and progresses slowly over decades. Patients usually have intact cognition until the very late stages of this disorder. Neuroimaging is the most helpful investigation and shows a very distinctive picture. So far no medication has been shown to have a disease-modifying effect. We present five new cases of this condition and review the current understanding of the pathogenesis and its clinical findings.
    No preview · Article · Jul 2012 · Parkinsonism & Related Disorders
  • J.R.B. Newman · R.S. Boyle · A.C. Lehn · G.D. Mellick

    No preview · Article · Jan 2012 · Parkinsonism & Related Disorders

  • No preview · Article · Jan 2012 · Parkinsonism & Related Disorders
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    ABSTRACT: Genes involved in familial dystonia syndromes (DYT genes) are ideal candidates for investigating whether common genetic variants influence the susceptibility to sporadic primary dystonia. To date, there have been few candidate gene studies for primary dystonia and only two DYT genes, TOR1A and THAP1, have been assessed. We therefore employed a haplotype-tagging strategy to comprehensively assess if common polymorphisms in eight DYT genes (TOR1A, TAF1, GCH1, THAP1, MR-1 (PNKD), SGCE, ATP1A3 and PRKRA) confer risk for sporadic primary dystonia. The 230 primary dystonia cases were matched for age and gender to 228 controls, recruited from movement disorder clinics in Brisbane, Australia and the Australian electoral roll. All subjects were genotyped for 56 tagging SNPs and genotype associations were investigated. Modest genotypic associations (P<0.05) were observed for three GCH1 SNPs (rs12147422, rs3759664 and rs10483639) when comparing all cases against controls. Associations were also seen when the cases were stratified based on presentation. Overall, our findings do not support the hypothesis that common TOR1A variants affect susceptibility for sporadic primary dystonia, and that it is unlikely that common variants around the DYT genes confer substantial risk for sporadic primary dystonia. Further work is warranted to follow up the GCH1 SNPs and the subgroup analyses.
    No preview · Article · Dec 2011 · Parkinsonism & Related Disorders
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    Alexander Lehn · George Mellick · Richard Boyle

    Preview · Article · Nov 2011 · Neurology
  • Richard S. Boyle · George D. Mellick · Helen G. Brown · Karen M. Sank

    No preview · Article · Dec 2010 · Journal of Clinical Neuroscience
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    ABSTRACT: Myasthenia gravis is an autoimmune disorder of the neuromuscular junction. Rituximab (RTX), a monoclonal antibody to CD20, leads to B lymphocyte depletion and has been used in some autoimmune disorders, including small case series of myasthenia gravis patients. A retrospective analysis was performed of all patients with acetylcholine receptor (AChR) (11 subjects) or muscle specific kinase antibody (MuSK) positive myasthenia gravis (three subjects), who had been treated with RTX in Brisbane, Australia. In most patients 1 g of RTX, in two divided doses, was given. Patients were monitored by serial clinical assessments, flow cytometry of peripheral blood B lymphocytes and antibody testing. RTX led to a significant improvement in symptoms in 11 of 14 patients. Doses of immunosuppressive medications were able to be reduced in 12 of 14 patients but medications could be completely ceased in only one patient. A demonstrable reduction of autoantibody levels was found in only three AChR positive patients and one MuSK positive patient, independent of clinical improvement. Peripheral blood B lymphocyte depletion was achieved in 13 out of 14 patients. B lymphocyte recovery occurred between 9 and 30 months post RTX (median 12.3 months) and was consistently associated with worsening of clinical symptoms. Rituximab at a dose of 1 g appears to be beneficial in the treatment of patients with severe myasthenia gravis. Serial monitoring of peripheral blood B lymphocytes appears to be useful in guiding the need for further RTX therapy.
    Full-text · Article · Nov 2010 · Journal of neurology, neurosurgery, and psychiatry
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    ABSTRACT: The advent of deep brain stimulation (DBS) has been an important advance in the treatment of Parkinson's disease (PD). DBS may be employed in the management of medication-refractory tremor or treatment-related motor complications, and may benefit between 4.5% and 20% of patients at some stage of their disease course. In Australia, patients with PD are reviewed by specialised DBS teams who assess the likely benefits and risks associated with DBS for each individual. The aim of these guidelines is to assist neurologists and general physicians identify patients who may benefit from referral to a DBS team. Common indications for referral are motor fluctuations and/or dyskinesias that are not adequately controlled with optimised medical therapy, medication-refractory tremor, and intolerance to medical therapy. Early referral for consideration of DBS is recommended as soon as optimised medical therapy fails to offer satisfactory motor control.
    No preview · Article · Sep 2009 · Journal of Clinical Neuroscience
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    ABSTRACT: Recent whole genome association studies provided little evidence that polymorphisms at the familial Parkinsonism loci influence the risk for Parkinson's disease (PD). However, these studies are not designed to detect the types of subtle effects that common variants may impose. Here, we use an alternative targeted candidate gene approach to examine common variation in 11 genes related to familial Parkinsonism. PD cases (n = 331) and unaffected control subjects (n = 296) were recruited from three specialist movement disorder clinics in Brisbane, Australia and the Australian Electoral Roll. Common genetic variables (76 SNPs and 1 STR) were assessed in all subjects and haplotype, genotype, and allele associations explored. Modest associations (uncorrected P < 0.05) were observed for common variants around SNCA, UCHL1, MAPT, and LRRK2 although none were of sufficient magnitude to survive strict statistical corrections for multiple comparisons. No associations were seen for PRKN, PINK1, GBA, ATP13A2, HTRA2, NR4A2, and DJ1. Our findings suggest that common genetic variables of selected PD-related loci contribute modestly to PD risk in Australians.
    No preview · Article · Apr 2009 · Movement Disorders
  • Simone M. Headrick · Benjamin C. Ong · Richard S. Boyle

    No preview · Article · Mar 2009 · Journal of Clinical Neuroscience
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    ABSTRACT: Familial Parkinsonism (PARK) genes are strong candidates for conferring susceptibility to common forms of PD. However, most studies to date have provided little evidence that their common variants substantially influence disease risk. Recently, mutations were described in the gene, GIGYF2 (TNRC15), located at the PARK11 locus (2q37.1). Here, we use a haplotype tagging approach to examine common variation in the GIGYF2 gene and PD risk. PD cases (n = 568) and age and gender-matched control subjects (n = 568) were recruited from three specialist movement disorder clinics in Brisbane (Australia) and the Australian electoral roll. Twelve tagging SNPs were assessed in all subjects and haplotype and genotype associations were explored. Overall our findings suggest that common genetic variants of GIGYF2 do not significantly affect sporadic PD risk in Australian Caucasians.
    No preview · Article · Feb 2009 · Movement Disorders
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    ABSTRACT: Motor and non-motor fluctuations are well known sequelae of dopaminergic therapies for Parkinson's disease (PD), particularly during the advanced stages. However, the prevalence of fluctuations early in the treatment course has been less well recognised and may be missed clinically if not specifically probed. We examined the used of a survey for this purpose. Patients to be surveyed were recruited by neurologists and geriatricians at 20 Australian centres. Patients had a diagnosis of idiopathic PD with a duration of fewer than 5 years and were considered by their treating physician to be non-fluctuating or had no change in their treatment plan in the prior 6 months. Patients, with or without assistance, completed a 19-item wearing-off questionnaire to assess the presence of motor and non-motor fluctuations that indicated early wearing-off. Investigators assessed the usefulness of the questionnaire in detecting fluctuations and guiding PD treatment. Of 105 patients recruited, 92 were eligible for analysis. There were 56 (61%) identified as having fluctuations. Patients with wearing-off were younger (mean 67 vs 72 years), and more likely to have had PD for more than 3 years. About half the patients (49%) were able to complete the questionnaire independently. Clinicians perceived the questionnaire as useful for detecting fluctuations and adjusting treatment. A simple and easily administered wearing-off questionnaire may be useful in the early detection of fluctuations in PD patients and assist in guiding therapy.
    No preview · Article · Oct 2008 · Journal of Clinical Neuroscience
  • Anna N Sellbach · Andrew A Wong · Richard S Boyle

    No preview · Article · Sep 2008 · Movement Disorders

Publication Stats

351 Citations
114.55 Total Impact Points


  • 2015
    • Brisbane Private Hospital
      Brisbane, Queensland, Australia
  • 1997-2014
    • Princess Alexandra Hospital (Queensland Health)
      • • Division of Medicine
      • • Radiology Department
      Brisbane, Queensland, Australia
  • 2006
    • University of Queensland
      • Department of Medicine
      Brisbane, Queensland, Australia
  • 1995
    • Karolinska University Hospital
      Tukholma, Stockholm, Sweden