Search

Background: More efficient screening methods are needed to improve the ability to identify and follow genetic cohorts in Parkinson's disease (PD)., Objective: To explore the use of the electronic medical records (EMRs) to identify participants with PD., Methods: Using an algorithm previously developed in collaboration with Maccabi Healthcare Services (MHS), approximately 5,200 participants with PD were identified, more than 3,200 were screened, and 837 participants were enrolled and genotyped for leucine-rich repeat kinase 2 (LRRK2) and beta-glucocerebrosidase (GBA) variants. Questionnaires were completed to ascertain Ashkenazi Jewish (AJ) ancestry and family history of PD., Results: Among 837 participants with PD, 82% were 65 years and older and 72% had a family history of AJ ancestry. Among those with AJ ancestry, 15.6% reported having relatives with PD. The frequency of observed mutations for LRRK2 and GBA genes combined was approximately 15.4%. The frequency of observed LRRK2 mutation was 6.1% overall and 7.2% from those with AJ ancestry; and for GBA mutation was 9.3% overall and 11.2% from those with AJ ancestry., Conclusion: Although the frequency of observed mutations in this study was lower than anticipated, mutation carriers were enriched among those with a family history of AJ ancestry increasing nearly 2-3-fold, from 3% -7% (LRRK2) and 4% -11% (GBA). The identification (and selection) of PD patients through EMRs prior to genotyping is a viable approach, to establish a genetically defined cohort of patients with PD for clinical research.

Our research team previously developed an accelerometry-based device, which can be worn on the waist during daily life activities and detects the occurrence of dyskinesia in patients with Parkinson's disease. The goal of this study was to analyze the magnitude of correlation between the numeric output of the device algorithm and the results of the Unified Dyskinesia Rating Scale (UDysRS), administered by a physician. In this study, 13 Parkinson's patients, who were symptomatic with dyskinesias, were monitored with the device at home, for an average period of 30 minutes, while performing normal daily life activities. Each patient's activity was simultaneously video-recorded. A physician was in charge of reviewing the recorded videos and determining the severity of dyskinesia through the UDysRS for every patient. The sensor device yielded only one value for dyskinesia severity, which was calculated by averaging the recorded device readings. Correlation between the results of physician's assessment and the sensor output was analyzed with the Spearman's correlation coefficient. The correlation coefficient between the sensor output and UDysRS result was 0.70 (CI 95%: 0.33-0.88; p = 0.01). Since the sensor was located on the waist, the correlation between the sensor output and the results of the trunk and legs scale sub-items was calculated: 0.91 (CI 95% 0.76-0.97: p < 0.001). The conclusion is that the magnitude of dyskinesia, as measured by the tested device, presented good correlation with that observed by a physician.

The treatment of Parkinson's disease (PD) with levodopa is very effective. However, over time, motor complications (MCs) appear, restricting the patient from leading a normal life. One of the most disabling MCs is ON-OFF fluctuations. Gathering accurate information about the clinical status of the patient is essential for planning treatment and assessing its effect. Systems such as the REMPARK system, capable of accurately and reliably monitoring ON-OFF fluctuations, are of great interest., Objective: To analyze the ability of the REMPARK System to detect ON-OFF fluctuations., Methods: Forty-one patients with moderate to severe idiopathic PD were recruited according to the UK Parkinson's Disease Society Brain Bank criteria. Patients with motor fluctuations, freezing of gait and/or dyskinesia and who were able to walk unassisted in the OFF phase, were included in the study. Patients wore the REMPARK System for 3days and completed a diary of their motor state once every hour., Results: The record obtained by the REMPARK System, compared with patient-completed diaries, demonstrated 97% sensitivity in detecting OFF states and 88% specificity (i.e., accuracy in detecting ON states)., Conclusion: The REMPARK System detects an accurate evaluation of ON-OFF fluctuations in PD; this technology paves the way for an optimisation of the symptomatic control of PD motor symptoms as well as an accurate assessment of medication efficacy., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Among Parkinson's disease (PD) symptoms, freezing of gait (FoG) is one of the most debilitating. To assess FoG, current clinical practice mostly employs repeated evaluations over weeks and months based on questionnaires, which may not accurately map the severity of this symptom. The use of a non-invasive system to monitor the activities of daily living (ADL) and the PD symptoms experienced by patients throughout the day could provide a more accurate and objective evaluation of FoG in order to better understand the evolution of the disease and allow for a more informed decision-making process in making adjustments to the patient's treatment plan. This paper presents a new algorithm to detect FoG with a machine learning approach based on Support Vector Machines (SVM) and a single tri-axial accelerometer worn at the waist. The method is evaluated through the acceleration signals in an outpatient setting gathered from 21 PD patients at their home and evaluated under two different conditions: first, a generic model is tested by using a leave-one-out approach and, second, a personalised model that also uses part of the dataset from each patient. Results show a significant improvement in the accuracy of the personalised model compared to the generic model, showing enhancement in the specificity and sensitivity geometric mean (GM) of 7.2%. Furthermore, the SVM approach adopted has been compared to the most comprehensive FoG detection method currently in use (referred to as MBFA in this paper). Results of our novel generic method provide an enhancement of 11.2% in the GM compared to the MBFA generic model and, in the case of the personalised model, a 10% of improvement with respect to the MBFA personalised model. Thus, our results show that a machine learning approach can be used to monitor FoG during the daily life of PD patients and, furthermore, personalised models for FoG detection can be used to improve monitoring accuracy.

Freezing of gait (FOG) is a common motor symptom of Parkinson's disease (PD), which presents itself as an inability to initiate or continue gait. This paper presents a method to monitor FOG episodes based only on acceleration measurements obtained from a waist-worn device. Three approximations of this method are tested. Initially, FOG is directly detected by a support vector machine (SVM). Then, classifier's outputs are aggregated over time to determine a confidence value, which is used for the final classification of freezing (i.e., second and third approach). All variations are trained with signals of 15 patients and evaluated with signals from another 5 patients. Using a linear SVM kernel, the third approach provides 98.7% accuracy and a geometric mean of 96.1%. Moreover, it is investigated whether frequency features are enough to reliably detect FOG. Results show that these features allow the method to detect FOG with accuracies above 90% and that frequency features enable a reliable monitoring of FOG by using simply a waist sensor.