Background Human genetics research lacks diversity; over 80% of genome‐wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. Objective This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. Methods We searched PubMed and EMBASE until October 2021 using search strings for “PD,” “genetics,” the main “URP,” and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non‐European populations. Two levels of independent reviewers identified and extracted information. Results We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome‐wide approach published up to 2021, including URPs. Conclusion This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 International Parkinson and Movement Disorder Society.

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Human genetics research lacks diversity; over 80% of genome-wide association studies (GWAS) have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in under-represented populations (URP), and sets a baseline to measure the future impact of current efforts in those populations. We searched PubMed and EMBASE until October 2021 using search strings for "PD", "genetics", the main "URP", and "lower-to-upper-middle-income countries". Inclusion criteria were original studies, written in English, reporting genetic results on PD patients from non-European populations. Two levels of independent reviewers identified and extracted relevant information. We observed considerable imbalances in PD genetic studies among URP. Asian participants from China were described in the majority of the articles published (61%), but other populations were less well studied, for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just seven studies using a genome-wide approach published up to 2021 including URP. This review provides insight into the significant lack of population diversity in PD research highlighting the urgent need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URP, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future.

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Background Performing motor evaluations using videoconferencing for patients with Parkinson's disease (PD) is safe and feasible. However, the feasibility of these evaluations is not adequately studied in resource-limited settings. Objective To evaluate the feasibility of performing motor evaluations for patients with PD in a resource-limited setting. Methods The examiners rated motor aspects of parkinsonism of 34 patients with PD from the Brazilian public healthcare system through telemedicine with the patient's own means by using the Movement Disorder Society-Sponsored Revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) rating scale. Quality measures of the video meeting were also obtained. The feasibility of rating the motor aspects was the primary outcome whereas the rating of individual motor aspects, video meeting quality and predictors of a complete evaluation served as secondary outcomes. Results The least assessable parameters were freezing of gait (52.9%), gait (70.6%), leg agility, and rest tremor (both 76.5%). Complete MDS-UPDRS part III was possible in 41.2% of patients and 62 out of 374 motor aspects evaluated (16.6%) were missed. Available physical space for a video evaluation was the worst quality measure. Incomplete evaluations were directly associated with disability (p = 0.048, r = 0.34) and inversely with available physical space (p = 0.003, r = 0.55). Conclusion A significant portion of the MDS-UPDRS part III is unable to be performed during telemedicine-based evaluations in a real-life scenario of a resource-limited setting.

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BackgroundThe anticholinergic burden (ACB) quantifies the cumulative anticholinergic drug exposure. Although a high ACB is associated with a greater risk of functional/cognitive decline, its usage is frequent in clinical practice. We aim to quantify the ACB and polypharmacy in referrals to a dementia tertiary outpatient clinic.MethodA retrospective analysis was performed including medical records of referrals from primary care to the tertiary outpatient dementia clinic of the Hospital de Clínicas de Porto Alegre from 2014 to 2021. All medications were evaluated and ACB was measured with the Brazilian Anticholinergic Activity Drug (BAAD) score. It classified drugs according to its central anticholinergic activity from 1 to 3, with higher values indicating greater anticholinergic activity. BAAD score is the sum of anticholinergic activity of each drug, with scores above 3 meaning high ACB. Polypharmacy was defined as the use of > 3 drugs. A logist regression was performed using age, sex, dementia etiology, and Mini Mental State Examination (MMSE) as covariates.ResultAmong 398 referrals, 238 had a diagnosis of dementia: Alzheimer’s disease (AD) (34.4%), mixed type dementia (10.9%), vascular dementia (VD) (9.6%) and others (Frontotemporal, Lewy bodies, alcohol and others 26.9%). A total of 43 (18%) individuals had severe dementia, named unspecified dementia. Polypharmacy was frequent (277, 74.5%) and VD presented an increased number of medications when compared with other groups (7.2+‐3.1, p<0.002 for all). A third of patients with dementia were classified as high ACB (119, 32%), though dementia etiologies were not associated with BAAD (p = 0.13). In the regression analysis BAAD were associated with VD (OR 3.6, IC 95%: 1.34‐9.9) and other types of dementia (OR 2.4, IC 95%: 1.19‐5). BAAD had a significant correlation with Geriatric Depression Scale (GDS) (r = 0.23, p = 0.0002), but not MMSE (p = 0.07).ConclusionMost patients presented polypharmacy at arrival to a tertiary memory clinic, and a third presented a high ACB. VD was a predictor of ACB score, and they may be at a greater risk of cognitive and functional worsening.

Background: The anticholinergic burden is associated with a greater risk of functional/ cognitive decline and morbidity/mortality. Objectives: Our aim was to quantify the anticholinergic burden in the first visit in our dementia tertiary outpatient clinic. Methods: We performed a retrospective analysis of all first visit medical records of patients referred from primary health care to the outpatient dementia clinic of a tertiary hospital in Porto Alegre with a final diagnosis of dementia or Mild Cognitive Impairment (MCI) between 2014-2019. We evaluated all medications in use and we calculated a final score using Brazilian Anticholinergic Activity Drug (BAAD) score. This scale classified drugs according to its central anticholinergic activity from 1 to 3, with higher values indicating greater activity. The final score is the sum of the score for each drug. We divided the sample in two groups (score=0 and ⩾ 1) and performed a logist regression using age, sex, dementia diagnosis and MMSE as covariates. Results: We identified 199 final diagnoses of dementia (mostly Alzheimer’s Disease (AD) [45.2%]) and 39 of MCI. Most patients with dementia (76.4%) and MCI (74.3%) had at least a BAAD score = 1. Median (IQI) BAAD score was higher in VD, 4 (1.0-6.5). In the regression analysis, BAAD score was associated with MMSE, controlling for covariates. Conclusions: In our sample, the anticholinergic burden was high and correlated with dementia severity.