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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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55 hot topic(s) found with the query "Parkinson's disease"

Improved measurement of disease progression in people living with early Parkinson's disease using digital health technologies.
Matthew D Czech et al. Commun Med (Lond) 2024 3 (1) 49 (Posted: Mar 18, 2024 9AM)

From the abstract: "Digital health technologies show promise for improving the measurement of Parkinson’s disease in clinical research and trials. However, it is not clear whether digital measures demonstrate enhanced sensitivity to disease progression compared to traditional measurement approaches. We develop a wearable sensor-based digital algorithm for deriving features of upper and lower-body bradykinesia and evaluate the sensitivity of digital measures to 1-year longitudinal progression using data from the WATCH-PD study, a multicenter, observational digital assessment study in participants with early, untreated Parkinson’s disease. "

Challenges of Parkinson's disease GWASs in African people.
Samia Ben Sassi et al. Lancet Neurol 2023 10 (11) 975-976 (Posted: Oct 23, 2023 8AM)

From the paper: "The genetic architecture of Parkinson's disease ranges from familial monogenic forms caused by rare highly penetrant variants to complex sporadic forms associated with high-frequency low-penetrance variants. Most large-scale genome-wide association studies (GWASs) have been done in individuals of European ancestry, and data on common low-penetrance risk variants associated with Parkinson's disease in African people are scarce. "

Risk factor for Parkinson's discovered in genes from people of African descent
J Hamilton, NPR, September 24, 2023 (Posted: Sep 29, 2023 11AM)

From the website: "A global effort to make genetic studies more diverse has led to a discovery about Parkinson's disease, a common brain disorder that can impair a person's ability to move and speak. A team that included scientists from Lagos, London and the U.S. found a previously unknown gene variant that can nearly quadruple the risk of Parkinson's for people of African ancestry. "

AI detects eye disease and risk of Parkinson's from retinal images.
Mariana Lenharo et al. Nature 2023 9 (Posted: Sep 14, 2023 8AM)

From the article: " Scientists have developed an artificial intelligence (AI) tool capable of diagnosing and predicting the risk of developing multiple health conditions — from ocular diseases to heart failure to Parkinson’s disease — all on the basis of people’s retinal images. AI tools have been trained to detect disease using retinal images before, but what makes the new tool — called RETFound — special is that it was developed using a method known as self-supervised learning. That means that the researchers did not have to analyse each of the 1.6 million retinal images used for training and label them as ‘normal’ or ‘not normal’, for instance. "

Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis.
Ann-Kathrin Schalkamp et al. Nat Med 2023 7 (Posted: Jul 05, 2023 7AM)

Using UK Biobank, we investigated the predictive value of accelerometry in identifying prodromal Parkinson’s disease in the general population and compared this digital biomarker with models based on genetics, lifestyle, blood biochemistry or prodromal symptoms data. Machine learning models trained using accelerometry data achieved better test performance in distinguishing both clinically diagnosed Parkinson’s disease (n?=?153) (area under precision recall curve (AUPRC) 0.14?±?0.04) and prodromal Parkinson’s disease (n?=?113) up to 7?years pre-diagnosis (AUPRC 0.07?±?0.03) from the general population (n?=?33,009) compared with all other modalities tested.

Providing Genetic Testing and Genetic Counseling for Parkinson’s Disease to the Community
L Cook et al, Genetics in Medicine, June 8, 2023 (Posted: Jun 09, 2023 8AM)

A multicenter, exploratory pilot study at seven academic hospital sites in the United States tracked enrollment and randomized participants to receive results and genetic counseling at local sites or by genetic counselors, remotely. Follow-up surveys measured participant/provider satisfaction, knowledge, and psychological impact.

Massive health-record review links viral illnesses to brain disease
M Koslov, Nature, January 23, 2023 (Posted: Jan 24, 2023 8AM)

An analysis of about 450,000 electronic health records has found a link between infections from influenza and other common viruses and an elevated risk of having a neurodegenerative condition such as Alzheimer’s or Parkinson’s disease later in life. But researchers caution that the data show only a possible connection, and that it’s still unclear how or whether the infections trigger disease onset.

From ‘wearables’ to ‘invisibles’
K O'Leary, Nature Medicine, December 22, 2022 (Posted: Dec 25, 2022 8AM)

A team of researchers has developed a non-invasive, artificial intelligence–enabled approach to the detection and monitoring of Parkinson’s disease (PD) — using a stationary, touch-free radio device to analyze signals bounced off a person’s body. In one study, this approach was used to monitor nocturnal breathing, which enabled detection and assessment of PD. This addresses a major unmet need, as current diagnostic methods are suboptimal — which often results in late-stage diagnoses.

Artificial intelligence-enabled detection and assessment of Parkinson's disease using nocturnal breathing signals.
Yang Yuzhe et al. Nature medicine 2022 8 (Posted: Aug 23, 2022 8AM)

We developed an artificial intelligence (AI) model to detect PD and track its progression from nocturnal breathing signals. The model was evaluated on a large dataset comprising 7,671 individuals, using data from several hospitals in the United States, as well as multiple public datasets. The AI model can detect PD with an area-under-the-curve of 0.90 and 0.85 on held-out and external test sets, respectively. The AI model can also estimate PD severity and progression.

GPNMB confers risk for Parkinson's disease through interaction with α-synuclein.
Diaz-Ortiz Maria E et al. Science (New York, N.Y.) 2022 8 (6608) eabk0637 (Posted: Aug 19, 2022 11AM)

Genome-wide association studies (GWAS) have uncovered nearly 100 loci that contribute to risk for Parkinson’s disease (PD), which affects an estimated 6 million people worldwide. However, target genes and biological mechanisms associated with these loci remain largely unexplored. Diaz-Ortiz et al. examined a PD GWAS risk locus on chromosome 7, linking it to the transmembrane protein Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB). GPNMB was found to interact with alpha-synuclein (aSyn),

The microbiome-gut-brain axis in Parkinson disease - from basic research to the clinic.
Tan Ai Huey et al. Nature reviews. Neurology 2022 6 (Posted: Jul 10, 2022 2PM)

Here, we provide a critical review of the literature on the microbiome–gut–brain axis in PD and present perspectives that will be useful for clinical practice. We begin with an overview of the gut–brain axis in PD, including the potential roles and interrelationships of the vagus nerve, a-synuclein in the enteric nervous system, altered intestinal permeability and inflammation, and gut microbes and their metabolic activities. The sections that follow synthesize the proposed roles of gut-related factors in the development and progression of, in responses to PD treatment, and as therapeutic targets.

Watching Parkinson’s disease with wrist-based sensors
JA Diao et al, NPJ Digital Medicine, June 13, 2022 (Posted: Jun 13, 2022 7AM)

Parkinson’s disease (PD) lacks sensitive, objective, and reliable measures for disease progression and response. This presents a challenge for clinical trials given the multifaceted and fluctuating nature of PD symptoms. Innovations in digital health and wearable sensors promise to more precisely measure aspects of patient function and well-being. Beyond research trials, digital biomarkers and clinical outcome assessments may someday support clinician-initiated or closed-loop treatment adjustments.

Co-evolution of machine learning and digital technologies to improve monitoring of Parkinson’s disease motor symptoms
AS Chahndrabahtla et al, NPJ DIgital Medicine, March 18, 2022 (Posted: Mar 18, 2022 7AM)

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.
Storm Catherine S et al. Nature communications 2021 12 (1) 7342 (Posted: Jan 02, 2022 4PM)

We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson’s disease. We use expression and protein quantitative trait loci to mimic exposure to medications, and we examine the causal effect on Parkinson’s disease risk (in two large cohorts), age at onset and progression. We propose 23 drug-targeting mechanisms for Parkinson’s disease, including four possible drug repurposing opportunities and two drugs which may increase Parkinson’s disease risk. Of these, we put forward six drug targets with the strongest Mendelian randomization evidence. There is remarkably little overlap between our drug targets to reduce Parkinson’s disease risk versus progression, suggesting different molecular mechanisms.

Contribution of rare variant associations to neurodegenerative disease presentation
AA Dilliott et al, NPJ Genomic Medicine, September 28, 2021 (Posted: Sep 29, 2021 6AM)

Facial expressions can detect Parkinson’s disease: preliminary evidence from videos collected online
MR ALi et al, NPJ Digital Medicine, September 3, 2021 (Posted: Sep 04, 2021 10AM)

We analyzed the facial action units (AU) from 1812 videos of 604 individuals (61 with PD and 543 without PD, with a mean age 63.9?y/o, sd. 7.8) collected online through a web-based tool (www.parktest.net). In these videos, participants were asked to make three facial expressions followed by a neutral face. Using machine learning, we objectively measured the variance of the facial muscle movements and used it to distinguish between individuals with and without PD. The prediction accuracy using the facial micro-expressions was comparable to methodologies that utilize motor symptoms.

Progress towards therapies for disease modification in Parkinson's disease
N Vijaratnam et al, Lancet Neruology, July 2021 (Posted: Jun 26, 2021 7AM)

Better understanding of Parkinson's disease pathogenesis associated with advances in laboratory models, the use of objective biomarkers of disease progression and target engagement, and a focus on agents known to be safe for human use, alongside the use of precision medicine approaches, should together greatly increase the likelihood for successful identification of disease-modifying treatments for Parkinson's disease.

Predicting optimal deep brain stimulation parameters for Parkinson’s disease using functional MRI and machine learning
A Boutet et al, Nat Comms, ay 24, 2021 (Posted: May 25, 2021 7AM)

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease
G Liu et al, Nature Genetics, May 6, 2021 (Posted: May 07, 2021 10AM)

We performed a longitudinal genome-wide survival study of 11.2 million variants in 3,821 patients with PD over 31,053 visits. We discover RIMS2 as a progression locus and confirm this in a replicate population (hazard ratio (HR)?=?4.77, P?=?2.78?×?10-11), identify suggestive evidence for TMEM108 (HR?=?2.86, P?=?2.09?×?10-8) and WWOX (HR?=?2.12, P?=?2.37?×?10-8) as progression loci, and confirm associations for GBA (HR?=?1.93, P?=?0.0002) and APOE (HR?=?1.48, P?=?0.001). Polygenic progression scores exhibit a substantial aggregate association with dementia risk.

The Role of Genetic Testing for Parkinson's Disease.
Cook Lola et al. Current neurology and neuroscience reports 2021 21(4) 17 (Posted: Mar 12, 2021 9AM)

Despite growing knowledge, genetic testing for PD is not typically offered by neurologists including movement disorder specialists. Neurologists express concerns about the financial and practical issues of genetic testing as well as the potential impact on their patients. Researchers and specialists in the field are questioning this hesitation as clinical utility and consumer demand increase.

Smartwatch inertial sensors continuously monitor real-world motor fluctuations in Parkinson's disease.
Powers Rob et al. Science translational medicine 2021 Feb (579) (Posted: Feb 06, 2021 7AM)

The authors developed a smartwatch-based ambulatory monitoring system to track dyskinesia and resting tremor in patients with Parkinson’s disease. Smartwatch-detected tremor and dyskinesia matched clinician-reported evaluations seen during in-clinic visits. The smartwatch-based system could identify changes in symptoms resulting from better adherence to medication or deep brain stimulation treatment.

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
DA Kia et al, JAMA Neurology. February 1, 2021 (Posted: Feb 01, 2021 11AM)

This genetic association study integrated Parkinson disease genome-wide association study data and brain-derived gene regulation data using various complementary bioinformatic tools and identified 11 candidate genes with evidence of disease-associated regulatory changes. Coexpression and protein level analyses of these genes demonstrated a significant functional association with known mendelian Parkinson disease genes.

Genetic evidence for protective effects of smoking and drinking behavior on Parkinson's disease: A Mendelian Randomization study
CD Baleon et al, MEDRXIV, April 24, 2020 (Posted: Apr 24, 2020 8AM)

We use a two-sample Mendelian randomization (MR) experimental design to infer causal relationships between smoking (initiation, age of initiation, heaviness, and cessation) and alcohol (drinks per week) consumption as exposure variables and PD as the health outcome.

What part does the gut play in Parkinson’s disease?
Nature Medicine, March 3, 2020 (Posted: Mar 05, 2020 8AM)

Some say Parkinson’s disease (PD) could start in the gut. Most agree that this organ could potentially offer avenues for the diagnosis, prevention and management of PD

Parkinsons disease determinants, prediction and gene-environment interactions in the UK Biobank
BM Jacobs, BIORXIV, February 15, 2020 (Posted: Feb 16, 2020 9AM)

The study used UK Biobank data to reproduce several well-known associations with PD, to demonstrate the validity and predictive power of a polygenic risk score, and to demonstrate a novel gene-environment interaction, whereby the effect of diabetes on PD risk appears to depend on prior genetic risk for PD.

mHealth and wearable technology should replace motor diaries to track motor fluctuations in Parkinson’s disease
MK Erb et al, NPJ Digital Medicine, January 2020 (Posted: Jan 18, 2020 9AM)

Our results highlight the significant opportunity for objective, high-resolution, continuous monitoring afforded by wearable technology to improve upon the monitoring of Parkinson's disease symptoms.

Characterization of Parkinson's disease using blood-based biomarkers: A multicohort proteomic analysis.
Posavi Marijan et al. PLoS medicine 2019 Oct (10) e1002931 (Posted: Oct 16, 2019 6AM)

Feasibility and utility of a clinician dashboard from wearable and mobile application Parkinson’s disease data
JJ Elm et al, NPJ Digital Medicine, September 25, 2019 (Posted: Sep 26, 2019 8AM)

Penetrance of Parkinson’s disease in LRRK2 p.G2019S carriers is modified by a polygenic risk score
H Iwaki et al, BioRXIV, August 20, 2019 (Posted: Aug 22, 2019 7AM)

While the LRRK2 p.G2019S mutation has been demonstrated to be a strong risk factor for Parkinson’s Disease (PD), factors that contribute to penetrance among carriers, other than aging, have not been well identified.

Gut microbes metabolize Parkinson's disease drug
C O'Neill, Science, June 14, 2019 (Posted: Jun 16, 2019 8AM)

A specific amino acid motif of HLA-DRB1 mediates risk and interacts with smoking history in Parkinson’s disease
JA Hollenbach et al, PNAS, March 25, 2019 (Posted: Mar 26, 2019 8AM)

Expanding Parkinson's disease genetics: novel risk loci, genomic context, causal insights and heritable risk.
MA Nalls, et al, BioRXIV, February 11, 2019 (Posted: Feb 13, 2019 9AM)

Protein affected by rare Parkinson’s mutation may lurk behind many cases of the disease
NIH News, July 25, 2018 Brand (Posted: Jul 26, 2018 7AM)

Sleep disorders and Parkinson disease; lessons from genetics.
Gan-Or Ziv et al. Sleep medicine reviews 2018 Jan (Posted: Apr 09, 2018 9AM)

Genetic risk factors in Parkinson's disease.
Billingsley K J et al. Cell and tissue research 2018 Mar (Posted: Apr 09, 2018 9AM)

Genetics of Parkinson's Disease: Genotype-Phenotype Correlations.
Koros Christos et al. International review of neurobiology 2017 197-231 (Posted: Sep 12, 2017 1PM)

Treatable inherited rare movement disorders.
Jinnah H A et al. Movement disorders : official journal of the Movement Disorder Society 2017 Sep (Posted: Sep 12, 2017 1PM)

Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy.
Obeso J A et al. Movement disorders : official journal of the Movement Disorder Society 2017 Sep (9) 1264-1310 (Posted: Sep 12, 2017 1PM)

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.
Chang Diana et al. Nature genetics 2017 Sep (Posted: Sep 12, 2017 0PM)

Genetic Forms of Parkinson's Disease.
Kim Christine Y et al. Seminars in neurology 2017 Apr (2) 135-146 (Posted: Aug 24, 2017 1PM)

Genetics of movement disorders in the next-generation sequencing era.
Olgiati Simone et al. Movement disorders : official journal of the Movement Disorder Society 2016 Apr (4) 458-70 (Posted: Jun 08, 2016 7AM)

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.
Hernandez Dena G et al. Journal of neurochemistry 2016 Apr (Posted: Jun 08, 2016 7AM)

Identification of TMEM230 mutations in familial Parkinson's disease
HX Deng et al, Nature Genetics, June 6, 2016 (Posted: Jun 08, 2016 7AM)

Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations.
Pont-Sunyer Claustre et al. Movement disorders : official journal of the Movement Disorder Society 2015 Jun 30(7) 904-8 (Posted: Apr 06, 2016 9AM)

Genetic variability in ABCB1, occupational pesticide exposure, and Parkinson's disease.
Narayan Shilpa et al. Environmental research 2015 Nov (Pt A) 98-106 (Posted: Nov 24, 2015 9AM)

Study Details Process Involved in Parkinson’s Disease
NIH Research Matters, August 24, 2015 Brand (Posted: Aug 24, 2015 2PM)

The emergence of Parkinson disease among patients with Gaucher disease.
Elstein Deborah et al. Best Pract. Res. Clin. Endocrinol. Metab. 2015 Mar (2) 249-59 (Posted: Aug 19, 2015 3PM)

Biomarkers of Parkinson's disease: present and future.
Miller Diane B et al. Metab. Clin. Exp. 2015 Mar (3 Suppl 1) S40-6 (Posted: Aug 19, 2015 3PM)

Epigenetic mechanisms in Parkinson's disease.
Feng Ya et al. J. Neurol. Sci. 2015 Feb 15. (1-2) 3-9 (Posted: Aug 19, 2015 3PM)

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.
Verstraeten Aline et al. Trends Genet. 2015 Mar (3) 140-9 (Posted: Aug 19, 2015 3PM)

The Parkinson Disease Mitochondrial Hypothesis: Where Are We at?
Franco-Iborra Sandra et al. Neuroscientist 2015 Mar 11. (Posted: Aug 19, 2015 3PM)

The genetics of Parkinson's disease.
Mullin Stephen et al. Br. Med. Bull. 2015 Jun (1) 39-52 (Posted: Aug 19, 2015 3PM)

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.
Nalls Mike A et al. Lancet Neurol 2015 Aug 10. (Posted: Aug 19, 2015 0PM)

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Lill Christina M et al. Alzheimers Dement 2015 Apr 29. (Posted: May 12, 2015 7AM)

Restless Legs Syndrome
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

What Is Restless legs syndrome (RLS) is a disorder that causes a strong urge to move your legs. This urge to move often occurs with strange and unpleasant feelings in your legs. Moving your legs relieves the urge and the unpleasant feelings. People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, itching, tingling, burning, aching, or electric shocks. Sometimes, these feelings also occur in the arms. The urge to move and unpleasant feelings happen when you're resting and inactive. Thus, they tend to be worse in the evening and at night. Overview RLS can make it hard to fall asleep and stay asleep. It may make you feel tired and sleepy during the day. This can make it hard to learn, work, and do other daily activities. Not getting enough sleep also can cause depression, mood swings, or other health problems. RLS can range from mild to severe based on: ?The strength of your symptoms and how often they occur ?How easily moving around relieves your symptoms ?How much your symptoms disturb your sleep One type of RLS usually starts early in life (before 45 years of age) and tends to run in families. It may even start in childhood. Once this type of RLS starts, it usually lasts for the rest of your life. Over time, symptoms slowly get worse and occur more often. If you have a mild case, you may have long periods with no symptoms. Another type of RLS usually starts later in life (after 45 years of age). It generally doesn't run in families. This type of RLS tends to have a more abrupt onset. The symptoms usually don't get worse over time. Some diseases, conditions, and medicines may trigger RLS. For example, the disorder has been linked to kidney failure, Parkinson's disease, diabetes, rheumatoid arthritis, pregnancy, and iron deficiency. When a disease, condition, or medicine causes RLS, the symptoms usually start suddenly. Medical conditions or medicines often cause or worsen the type of RLS that starts later in life. Outlook RLS symptoms often get worse over time. However, some people's symptoms go away for weeks to months. If a medical condition or medicine triggers RLS, the disorder may go away if the trigger is relieved or stopped. For example, RLS that occurs due to pregnancy tends to go away after giving birth. Kidney transplants (but not dialysis) relieve RLS linked to kidney failure. Treatments for RLS include lifestyle changes and medicines. Some simple lifestyle changes often help relieve mild cases of RLS. Medicines often can relieve or prevent the symptoms of more severe RLS. Research is ongoing to better understand the causes of RLS and to find better treatments.


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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