Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson's Disease Cohorts

ACKNOWLEDGMENTS The authors would like to thank all of the patients and controls for participation in each of the studies. Equally, we thank all members of each of the study groups and other personnel for their contributions. Funding sources for the respective studies are as follows: The Norwegian ParkWest study has been funded by the Research Council of Norway (177966), the Western Norway Regional Health Authority (911218), the Norwegian Parkinson’s Research Foundation, and Rebergs Legacy. PINE study was supported by Parkinson’s UK (G0502, G0914, G1302), Scottish Government Chief Scientist Office, BMA Doris Hillier Award, the BUPA Foundation, NHS Grampian Endowments, and RS MacDonald Trust. The NYPUM study has been funded by the Swedish Medical Research Council, the Swedish Parkinson’s disease Association, the Swedish Parkinson’s Foundation, Parkinson Research Foundation, Erling Persson Foundation, Kempe Foundation, the Swedish Brain Foundation (Hjarnfonden), and the Vasterbotten County Council. AAS, JMG and GA are supported by the Research Council of Norway (287842). BLF acknowledges support through donations to the UCLA Clinical Neurogenomics Research Center. CK is supported by the NIH grant F32AG063442. The PEG study was supported by NIH/NIEHS grants R01-ES010544 and U54-ES012078. Publication of this manuscript was supported under the The Michael J. Fox Foundation: 2021 RFA: Accelerating Publication of Parkinson’s Disease Replication Data.Peer reviewedPublisher PD

July 2017 ENCALS statement on edaravone

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Reliability of Three Disability Scales for Detection of Independence Loss in Parkinson’s Disease

Background. Loss of independence is considered an important outcome measure in Parkinson’s disease (PD), but tools to assess dependency have not been tested in PD. Methods. In this study of 158 PD patients, we examined the two most widely used scales and cut-offs for dependency evaluation in PD, the Hoehn and Yahr (HY) stage > 3 and the Schwab and England (SE) scale score < 80%, against a standardized clinical interview assessing dependency in activities of daily living (ADL). We also examined the performance of the generic Barthel ADL index. In addition, we determined whether alternative cut-offs improved the utility of these tools. Results. Compared to clinical interview as gold standard, HY stage > 3 had 21% sensitivity and 98% specificity in detecting dependency in ADL. Corresponding figures for SE score < 80% were 55% and 92%, respectively. Using alternative cut-off values improved the overall diagnostic accuracy only slightly. Barthel ADL index had 67% sensitivity and 78% specificity in detecting dependency at its optimal cut-off value. Conclusion. Both the disease-specific HY staging and SE scale and the generic Barthel ADL index are suboptimal tools for assessing independence loss in PD. Clinical interview should be the assessment of choice in studies of dependency

Targeting NAD⁺ in translational research to relieve diseases and conditions of metabolic stress and ageing

Nicotinamide adenine dinucleotide (NAD+) plays a fundamental role in life and health through the regulation of energy biogenesis, redox homeostasis, cell metabolism, and the arbitration of cell survival via linkages to apoptosis and autophagic pathways. The importance of NAD+ in ageing and healthy longevity has been revealed from laboratory animal studies and early-stage clinical testing. While basic researchers and clinicians have investigated the molecular mechanisms and translation potential of NAD+, there are still major gaps in applying laboratory science to design the most effective trials. This mini-review was based on the programme and discussions of the 3rd NO-Age Symposium held at the Akershus University Hospital, Norway on the 28th October 2019. This symposium brought together leading basic researchers on NAD+ and clinicians who are leading or are going to perform NAD+ augmentation-related clinical studies. This meeting covered talks about NAD+ synthetic pathways, subcellular homeostasis of NAD+, the benefits of NAD+ augmentation from maternal milk to offspring, current clinical trials of the NAD+ precursor nicotinamide riboside (NR) on Ataxia-Telangiectasia (A-T), Parkinson’s disease (PD), post-sepsis fatigue, as well as other potential NR-based clinical trials. Importantly, a consensus is emerging with respect to the design of clinical trials in order to measure meaningful parameters and ensure safety