Publications by authors named "Noyce A"

Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.

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Background: Depression is often cited as a major modifiable risk factor for dementia, though the relative contributions of a true causal relationship, reverse causality and confounding factors remain unclear. This study applied a subset of the Bradford Hill criteria for causation to depression and dementia including strength of effect, specificity, temporality, biological gradient and coherence.

Methods: A total of 491 557 participants in UK Biobank aged between 40 and 69 at enrolment and followed up for a mean duration of 12.

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Background: Dual-task (DT) performance is impaired in Parkinson's disease (PD), contributing to bradykinesia, postural instability, freezing of gait, and falls. Tactile cueing, including vibrotactile stimulation, has been suggested to improve DT performance in PD.

Research Question: Does tactile cueing affect DT performance in PD, specifically measured by dual-task cost (DTC)?

Methods: A systematic review was conducted in PubMed and EMBASE up to October 30, 2023, following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines.

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Article Synopsis
  • * Researchers used genome-wide association studies (GWAS) to identify a negative correlation between olfactory ability and PD at a genetic level, finding specific genetic locations tied to both traits.
  • * The study suggests a strong causal relationship where poorer sense of smell may indicate a higher risk for PD, rather than PD itself causing diminished olfactory function.
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The age-standardized prevalence of Parkinson's disease (PD) has increased substantially over the years and is expected to increase further. This emphasizes the need to identify modifiable risk factors of PD, which could form a logical entry point for the prevention of PD. The World Health Organization (WHO) has recommended reducing exposure to specific environmental factors that have been reported to be associated with PD, in particular pesticides, trichloroethylene (TCE), and air pollution.

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Background: Preferences for risk disclosure in population-based studies assessing Parkinson's disease (PD) risk have not been assessed so far.

Objectives: To examine preferences for risk disclosure in a subset of the European Healthy Brain Aging (HeBA) multicenter study.

Methods: After a remote PD risk assessment, a structured pilot-questionnaire on risk disclosure was first presented to participants (≥50 years, without neurodegenerative diseases) during in-person visits at the Innsbruck study site.

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  • Knowledge of the genetic factors contributing to Parkinson's disease has significantly expanded, starting from the identification of the first mutation in α-synuclein to discovering various other related genes.
  • Genetic research helps understand the diverse symptoms of Parkinson's disease and promotes the search for new biomarkers and treatment options, with several clinical trials in progress.
  • Efforts to include previously under-represented populations in genetic studies are fostering collaboration and promising new insights, although challenges persist, offering opportunities for a more comprehensive understanding of the disease worldwide.
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  • Multiple studies have identified genetic factors linked to Alzheimer's and Parkinson's diseases, mostly in European populations, but evidence shows genetic variations exist across different ancestries.
  • There are concerns that treatments developed based on European genetics may not be effective for Latino, Black/African American, and East Asian populations due to differing disease mechanisms.
  • This study investigates the Population Attributable Risk (PAR) for Alzheimer's and Parkinson's by analyzing genetic data from various ancestries to promote inclusive and effective treatment strategies for neurodegenerative diseases.
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Alzheimer's disease (AD) and Parkinson's disease (PD) are influenced by genetic and environmental factors. Using data from UK Biobank, SAIL Biobank, and FinnGen, we conducted an unbiased, population-scale study to: 1) Investigate how 155 endocrine, nutritional, metabolic, and digestive system disorders are associated with AD and PD risk prior to their diagnosis, considering known genetic influences; 2) Assess plasma biomarkers' specificity for AD or PD in individuals with these conditions; 3) Develop a multi-modal classification model integrating genetics, proteomics, and clinical data relevant to conditions affecting the gut-brain axis. Our findings show that certain disorders elevate AD and PD risk before AD and PD diagnosis including: insulin and non-insulin dependent diabetes mellitus, noninfective gastro-enteritis and colitis, functional intestinal disorders, and bacterial intestinal infections, among others.

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  • Parkinson's disease (PD) is increasingly recognized as a public health issue, particularly in lower-income countries where data is limited.
  • A systematic review of literature identified 57 relevant studies from various regions, revealing significant geographical differences in PD prevalence, with numbers ranging from 49 to 1081 per 100,000 population.
  • The study found that PD prevalence increases with age and is influenced by socioeconomic factors such as GDP per capita, highlighting the need for better data collection and standardized methodologies across different populations.
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Introduction: Motor dysfunction is an important feature of early-stage dementia. Gait provides a non-invasive biomarker across the dementia continuum. Gait speed and rhythm aid risk stratification of incident dementia in subjective cognitive impairment (SCI) and are associated with cognitive domains in mild cognitive impairment (MCI) and dementia.

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The ability to identify individuals in the prodromal phase of Parkinson's disease has improved in recent years, raising the question of whether and how those affected should be informed about the risk of future disease. Several studies investigated prognostic counselling for individuals with isolated REM sleep behavior disorder and have shown that most patients want to receive information about prognosis, but autonomy and individual preferences must be respected. However, there are still many unanswered questions about risk disclosure or early diagnosis of PD, including the impact on personal circumstances, cultural preferences and specific challenges associated with different profiles of prodromal symptoms, genetic testing or biomarker assessments.

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Reduced spontaneous blinking is a recognized Parkinson's disease (PD) feature. In contrast, voluntary blinking has been less studied and might serve as a measurable marker of facial bradykinesia. We tested 31 PD patients and 31 controls.

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Background: Conflicting data exist around oral contraceptive exposure and subsequent multiple sclerosis (MS).

Objective: To use routinely collected primary healthcare data to explore the potential association between oral contraceptive exposure and subsequent MS in females at population level.

Methods: We performed a nested case-control study using electronic primary care data, with complete electronic ascertainment from 1990.

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Introduction: Cases of nitrous oxide (NO)-induced myeloneuropathy are increasing at UK hospitals. At our centre, a dedicated ambulatory care pathway, endorsed nationally, was established to treat and monitor patients with NO-myeloneuropathy in 2021 and refined through three audit cycles. We analysed the outcomes of patients on this pathway to better understand factors associated with non-engagement.

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Background: There is evidence that social interaction has an inverse association with the development of neurodegenerative diseases. PREDICT-Parkinson Disease (PREDICT-PD) is an online UK cohort study that stratifies participants for risk of future Parkinson disease (PD).

Objective: This study aims to explore the methodological approach and feasibility of assessing the digital social characteristics of people at risk of developing PD and their social capital within the PREDICT-PD platform, making hypotheses about the relationship between web-based social engagement and potential predictive risk indicators of PD.

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Article Synopsis
  • Parkinson's disease (PD) is a progressive and incurable condition, but recent research identifies a prodromal phase (pPD) that could help in early detection and intervention.
  • Ethical considerations in disclosing pPD risk revolve around beneficence, nonmaleficence, autonomy, and justice, necessitating a careful balance between the benefits and potential emotional impacts of such a diagnosis.
  • Future studies should focus on the implications of early detection in diverse populations, emphasizing the importance of personalized communication and shared decision-making in managing patient care.
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Background: The study aimed to elucidate the prevalence of nitrous oxide (N2O) usage in patients with unexplained venous thromboembolism (VTE), highlighting the potential association with hyperhomocysteinaemia (HHcy).

Methods: We conducted a retrospective study at the Royal London Hospital, examining cases of N2O-related VTE from March to August 2023. Among 50 patients identified, four (8%) had recent unprovoked VTE.

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  • Depression is common in individuals with Parkinson's disease (PD), with a prevalence that significantly increases from 10 years prior to diagnosis to 10 years after diagnosis.
  • The study analyzed data from over 434,000 participants, revealing that depression is associated with a higher risk of developing PD and is linked to structural changes in the brain, particularly in areas like the thalamus and amygdala.
  • Early depression in PD patients is a strong predictor of worse outcomes, such as higher chances of developing dementia and increased mortality risk, highlighting the need for better clinical evaluation and management of mental health in this population.
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Listeners performed two different tasks in which they remembered short sequences comprising either complex tones (generally heard as one melody) or everyday sounds (generally heard as separate objects). In one, listeners judged whether a probe item had been present in the preceding sequence. In the other, they judged whether a second sequence of the same items was identical in order to the preceding sequence.

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Recruitment is a major rate-limiting factor in Parkinson's disease (PD) research. AccessPD is a unique platform that aims to create a registry of more than 2000 PD patients and a rich database of PD-relevant information. Potential participants are identified using electronic health records (EHRs) in primary care.

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Background: Isolated Rapid Eye Movement (REM) sleep Behavior Disorder (iRBD) requires quantitative tools to detect incipient Parkinson's disease (PD).

Methods: A motor battery was designed and compared with the Movement Disorder Society-Unified Parkinson's Disease Rating Scale part III (MDS-UPDRS-III) in people with iRBD and controls. This included two keyboard-based tests (BRadykinesia Akinesia INcoordination tap test and Distal Finger Tapping) and two dual tasking tests (walking and finger tapping).

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Background: Rapid eye movement (REM) sleep behavior disorder (RBD) is an early feature of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Damaging coding variants in Glucocerebrosidase (GBA1) are a genetic risk factor for RBD. Recently, a population-specific non-coding risk variant (rs3115534) was found to be associated with PD risk and earlier onset in individuals of African ancestry.

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