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1. Clinicians’ view on the management of oral health in Parkinson’s disease patients: a qualitative study

Author

Merel C. Verhoeff, Magdalini Thymi, Arnoud N. Brandwijk, Mark S. Heres, Michail Koutris, Henk W. Berendse, Karin D. van Dijk, and Frank Lobbezoo

Subjects
Dentistry, RK1-715
Abstract

Abstract Background due to numerous motor and non-motor symptoms, dental treatment in patients with Parkinson’s Disease (PD) can be challenging. Knowledge regarding optimal management of oral health in PD patients is lacking. Aim to gain a deeper understanding of the experiences of dentists regarding oral health care for PD patients in the Netherlands. Material and method semi-structured interviews were conducted with (specialized) dentists working with PD patients. A thematic analysis was performed using a framework-based approach. Results ten dentists were interviewed. They reported that dental care in PD patients requires 1) adaptation of timing and length of treatments and consultations, and 2) intensifying preventive measures. Dentists experienced the organization as bureaucratic and difficult. Moreover, differences between being institutionalized or living at home were present. Education and research are needed to improve PD patients’ oral health. The experience level and affinity for treating PD patients positively influences confidence levels of the practitioner. Finally, points of improvement were suggested. Conclusion managing oral health in PD patients is challenging, and interdisciplinary collaboration is needed to overcome difficulties. Reducing the bureaucratic burden and improving knowledge could help and stimulate oral health care providers to treat PD patients more effectively and, consequently, improve their oral health.

Published
2023
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2. Inflammatory Blood Biomarkers Are Associated with Long-Term Clinical Disease Severity in Parkinson’s Disease

Author

Dagmar H. Hepp, Thecla A. van Wageningen, Kirsten L. Kuiper, Karin D. van Dijk, Linda P. Oosterveld, Henk W. Berendse, and Wilma D. J. van de Berg

Subjects
immune response, blood biomarkers, Parkinson’s disease, disease severity, CCL23, TGF-alpha, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

An altered immune response has been identified as a pathophysiological factor in Parkinson’s disease (PD). We aimed to identify blood immunity-associated proteins that discriminate PD from controls and that are associated with long-term disease severity in PD patients. Immune response-derived proteins in blood plasma were measured using Proximity Extension Technology by OLINK in a cohort of PD patients (N = 66) and age-matched healthy controls (N = 52). In a selection of 30 PD patients, we evaluated changes in protein levels 7–10 years after the baseline and assessed correlations with motor and cognitive assessments. Data from the Parkinson’s Disease Biomarkers Program (PDBP) cohort and the Parkinson’s Progression Markers Initiative (PPMI) cohort were used for independent validation. PD patients showed an altered immune response compared to controls based on a panel of four proteins (IL-12B, OPG, CXCL11, and CSF-1). The expression levels of five inflammation-associated proteins (CCL23, CCL25, TNFRSF9, TGF-alpha, and VEGFA) increased over time in PD and were partially associated with more severe motor and cognitive symptoms at follow-up. Increased CCL23 levels were associated with cognitive decline and the APOE4 genotype. Our findings provide further evidence for an altered immune response in PD that is associated with disease severity in PD over a long period of time.

Published
2023
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3. CSF Biomarkers Reflecting Protein Pathology and Axonal Degeneration Are Associated with Memory, Attentional, and Executive Functioning in Early-Stage Parkinson′s Disease

Author

Linda P. Oosterveld, Tessa I. Kuiper, Nour K. Majbour, Inge M. W. Verberk, Karin D. van Dijk, Jos W. R. Twisk, Omar M. El-Agnaf, Charlotte E. Teunissen, Henry C. Weinstein, Martin Klein, Henk W. Berendse, and Wilma D. J. van de Berg

Subjects
CSF biomarkers, cognitive impairment, neuropsychological testing, Parkinson′s disease, Biology (General), QH301-705.5, Chemistry, QD1-999
Abstract

In early-stage Parkinson′s disease (PD), cognitive impairment is common, and a variety of cognitive domains including memory, attention, and executive functioning may be affected. Cerebrospinal fluid (CSF) biomarkers are potential markers of cognitive functioning. We aimed to explore whether CSF α-synuclein species, neurofilament light chain, amyloid-β42, and tau are associated with cognitive performance in early-stage PD patients. CSF levels of total-α-synuclein and phosphorylated-α-synuclein, neurofilament light chain, amyloid-β42, and total-tau and phosphorylated-tau were measured in 26 PD patients (disease duration ≤5 years and Hoehn and Yahr stage 1–2.5). Multivariable linear regression models, adjusted for age, gender, and educational level, were used to assess the relationship between CSF biomarker levels and memory, attention, executive and visuospatial function, and language performance scores. In 26 early-stage PD patients, attention and memory were the most commonly affected domains. A higher CSF phosphorylated-α-synuclein/total-α-synuclein ratio was associated with better executive functioning (sβ = 0.40). Higher CSF neurofilament light was associated with worse memory (sβ = −0.59), attentional (sβ = −0.32), and executive functioning (sβ = −0.35). Reduced CSF amyloid-β42 levels were associated with poorer attentional functioning (sβ = 0.35). Higher CSF phosphorylated-tau was associated with worse language functioning (sβ = −0.33). Thus, CSF biomarker levels, in particular neurofilament light, were related to the most commonly affected cognitive domains in early-stage PD. This indicates that CSF biomarker levels may identify early-stage PD patients who are at an increased risk of developing cognitive impairment.

Published
2020
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4. Diagnostic cerebrospinal fluid biomarkers for Parkinson's disease: A pathogenetically based approach

Author

Karin D. van Dijk, Charlotte E. Teunissen, Benjamin Drukarch, Connie R. Jimenez, Henk J. Groenewegen, Henk W. Berendse, and Wilma D.J. van de Berg

Subjects
Pathogenesis, Biochemical marker, Proteins, Early diagnosis, Neurodegenerative disorders, Proteomics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

The inaccuracy of the early diagnosis of Parkinson's disease (PD) has been a major incentive for studies aimed at the identification of biomarkers. Brain-derived cerebrospinal fluid (CSF) proteins are potential biomarkers considering the major role that proteins play in PD pathogenesis. In this review, we discuss the current hypotheses about the pathogenesis of PD and identify the most promising candidate biomarkers among the CSF proteins studied so far. The list of potential markers includes proteins involved in various pathogenetic processes, such as oxidative stress and protein aggregation. This list will undoubtedly grow in the near future by application of CSF proteomics and subsequent validation of identified proteins. Probably a single biomarker will not suffice to reach high sensitivity and specificity, because PD is pathogenetically heterogeneous and shares etiological factors with other neurodegenerative diseases. Furthermore, identified candidate biomarkers will have to be thoroughly validated before they can be implemented as diagnostic aids.

Published
2010
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5. Parkinson's disease, temporomandibular disorder pain and bruxism and its clinical consequences

Author

Merel Charlotte Verhoeff, Michail Koutris, Henk W Berendse, Karin D van Dijk, F Lobbezoo, Neurology, Amsterdam Neuroscience - Neurodegeneration, and Oral Kinesiology

Subjects
Parkinson's disease, Pain, oral medicine, Parkinson Disease, General Medicine, Temporomandibular Joint Disorders, stomatognathic diseases, motor neurone disease, Outpatients, Quality of Life, Humans, epidemiology, Tooth Wear, Sleep Bruxism
Abstract

IntroductionA recent questionnaire-based study suggested that bruxism and painful temporomandibular disorders (TMD pain) may be more prevalent in patients with Parkinson’s disease (PD) compared with controls. The presence of both bruxism and TMD pain may negatively influence patients’ quality of life. The present study is designed to clinically and more objectively investigate the presence of bruxism and TMD pain in patients with PD. The secondary aim of the study is to identify factors associated with bruxism and TMD pain in patients with PD, such as disease severity and dopaminergic medication usage. Furthermore, the presence of tooth wear in patients with PD will be studied as this can be a major consequence of bruxism. Finally, deviations in saliva composition that may contribute to tooth wear will be studied.Methods and analysisThis is a single-centre observational outpatient study at the Amsterdam University Medical Centres, location VUmc. All patients with a clinical diagnosis of PD will be eligible for inclusion. Participants will fill in a set of questionnaires. Subsequently, patients will be examined clinically for, among others, TMD pain, presence and severity of tooth wear, and deviations in saliva composition. Sleep-time registrations will take place for 5 nights with the GrindCare GC4 (ie, a portable, single-channel electromyographic recorder) to assess sleep bruxism and simultaneously by the use of the BruxApp for 5 days to assess awake bruxism. We will partly use data collected during standard clinical care to minimise patient burden.Ethics and disseminationThe scientific and ethical aspects of this study protocol have been approved by the Medical Ethics Review Committee of the Amsterdam UMC, location VUmc; NL. 2019.143. Informed consent will be obtained from all participants. The results will be published in a peer-reviewed journal, if relevant presented at conferences, and published as part of a PhD thesis.Trial registration numberNL8307.

Published
2022

6. Orofacial pain and dysfunction in patients with Parkinson's disease:A scoping review

Author

Merel C. Verhoeff, Michail Koutris, Sharine Tambach, Denise Eikenboom, Ralph de Vries, Henk W. Berendse, Karin D. van Dijk, and Frank Lobbezoo

Subjects
Anesthesiology and Pain Medicine, SDG 3 - Good Health and Well-being, Facial Pain, Quality of Life, Humans, Mastication, Parkinson Disease, Temporomandibular Joint Disorders
Abstract

Background: Parkinson's disease (PD) is commonly known as a disorder that affects the smooth performance of body movements. In addition to the motor impairments, patients with PD often experience pain. Both motor impairments and pain can occur throughout the body, hence including the orofacial region. However, currently, there is a lack of knowledge on the orofacial manifestations. Since orofacial pain and dysfunction can, amongst others, reduce the quality of life of patients with PD, it is important to explore the prevalence of these symptoms in the PD population. Objective: To provide a broad overview of the relevant literature on orofacial pain and dysfunction in patients with PD. Furthermore, we aim to generate hypotheses for future research on this topic. Databases and data treatment: A literature search (in PubMed, Embase.com, Web of Science [Core collection], and Cochrane Library) was performed on 20 January 2022, in collaboration with a medical librarian. In total, 7180 articles were found, of which 50 were finally included in this scoping review. Results: In the included studies, pain (e.g. orofacial pain (N = 2) and temporomandibular disorder pain (N = 2)), orofacial motor dysfunction (e.g. limited jaw movements (N = 10), reduced maximum muscle output (N = 3), chewing difficulties (N = 9), unspecified TMD (N = 3), sensory disturbances (N = 1)), and bruxism (N = 3) were observed more often in patients with PD than in healthy controls. Conclusion: Patients with PD experience more pain in the orofacial area and more dysfunction of the masticatory system than their healthy peers. Significance: This scoping review can increase health care providers' awareness of the problems that can be encountered in the orofacial area of PD patients, especially pain syndromes also occur in the orofacial region and not only in the extremities. Besides, dysfunction of the orofacial area is elaborated in this scoping review, which helps to understand that this limits PD patients' quality of life. Further, the outcomes of this scoping review can assist in encouraging collaboration between medicine and dentistry. Finally, this scoping review suggests new research areas, based on the gaps identified in the current literature on this topic. Ultimately, this will improve individualized strategies for reducing orofacial pain and/or dysfunction in PD patients.

Published
2022

7. Salivation in Parkinson's disease:A scoping review

Author

Merel C. Verhoeff, Michail Koutris, Ralph de Vries, Henk W. Berendse, Karin D. van Dijk, and Frank Lobbezoo

Subjects
saliva, review, dental health, Geriatrics and Gerontology, General Dentistry, elderly, Xerostomia
Abstract

Objectives: We aimed to provide an overview of the available literature that includes both objective assessments (namely hypersalivation and hyposalivation) and the subjective experience (namely xerostomia and drooling) of salivary problems in patients with Parkinson's disease. Background: In patients with Parkinson's disease, there may be complaints of salivary problems such as xerostomia or drooling. This can have consequences for their oral health and quality of life. To date, systematic reviews have focused on drooling only. Materials and methods: A literature search in 4 databases was performed up to 12 February 2021. Two researchers independently assessed studies for eligibility. Results: In total, 63 studies were included. The prevalence of self-reported xerostomia ranged from 49% to 77%, and that of self-reported drooling ranged from 5% to 80%. Ten articles reported a significantly lower mean salivary flow in patients with Parkinson's disease than in controls. None of the articles with both a control group and a patient group reported a significantly higher salivary flow in patients with Parkinson's disease. When questioned about subjective salivary problems, a significantly higher prevalence of both xerostomia (7 studies) and drooling (14 studies) was found in patients with Parkinson's disease than in controls. Patients with Parkinson's disease have a lower salivary flow rate and higher prevalence of both xerostomia and drooling than controls. Conclusion: The complexity of salivary problems present in patients with Parkinson's disease necessitates a multidisciplinary approach in order to avoid mutually counteracting treatments from different healthcare professionals.

Published
2022

8. 1598. Clinical implications of azole-resistant vs. azole-susceptible invasive aspergillosis in hematological malignancy (CLARITY) – a multicenter study

Author

Alen Ostojić, Marie-Pierre Brenier-Pinchart, Anne Bergeron, Ola Blennow, Jacques F. Meis, Philipp Koehler, Agustin Resendiz Sharpe, Willem J. G. Melchers, Barbora Weinbergerova, Yohann Le Govic, Sung-Yeon Cho, Oliver A. Cornely, Nikolay Klimko, Nael Alakel, Patricia Muñoz, Marouan Zarrouk, Carolina Garcia-Vidal, Cornelia Lass-Flörl, Nick de Jong, Karin D. van Dijk, Maricela Valerio, Guillaume Desoubeaux, Katrien Lagrou, Paul E. Verweij, Enrico Schalk, Jon Salmanton-García, Maria J G T Vehreschild, Zdenek Racil, Jörg Steinmann, Danila Seidel, Stefanie K Gräfe, Martin Christner, Jörg J. Vehreschild, Blandine Rammaert, Susann Rössler, Johan Maertens, and Iker Falces-Romero

Subjects
chemistry.chemical_classification, medicine.medical_specialty, business.industry, Aspergillosis, medicine.disease, Dermatology, Infectious Diseases, AcademicSubjects/MED00290, Oncology, chemistry, Multicenter study, Hematological malignancy, Poster Abstracts, Medicine, Azole, business, health care economics and organizations
Abstract

Background Advances in the survival of patients with invasive aspergillosis (IA) are jeopardized by the emergence of azole resistance in Aspergillus fumigatus, which has been associated with high probability of azole treatment failure. The clinical implications of azole-resistant IA compared to azole-susceptible IA remain unclear. Thus, we seek to describe the epidemiology and to determine the efficacy of antifungal therapy in patients with documented azole-resistant IA compared to azole-susceptible IA in patients with hematological malignancy. Methods For proven and probable IA (EORTC/MSG 2019) caused by A. fumigatus in patients with hematological malignancies retrospective data were documented, comprising demographics, diagnosis, treatment, response, and outcome. Sites provided susceptibility results or respective isolates for analysis in a central laboratory. Results Sites in 16 countries worldwide enrolled 187 cases diagnosed with IA between 2010 and 2019; 31 (16.6%) were resistant to at least one of the clinical azoles. Fungal isolates were available from 42 cases. A mixed fungal infection was reported for 32 patients (17.1%), most were related to non-fumigatus Aspergillus and non-Aspergillus molds (n=22, 69%). Most patients were male (66.8%) and overall the majority of patients were in the age groups between 50 and 89 years (71%). Amphotericin B was used for treatment in 24 (77%) patients with azole-resistant IA, compared to 76 (49%) in the azole-susceptible group (lipid-based formulation in 98%); only five (16%) patients with azole-resistant IA were treated with an azole alone vs. 57 (36%) of those with azole-susceptible IA. Overall, all-cause mortality rate was higher for patients with azole-resistant compared to azole-susceptible IA (74.2% vs. 53.8%, log rank P=0.004), the 8 patients with an azole-resistant IA treated in the intensive care unit died within 1 month (Figure 1). Details on underlying disease and survival are given in Table 1. Table 1. Underlying hematological malignancy and clinical outcome of patients with azole-resistant and azole-susceptible invasive aspergillosis Figure 1. Intensive care unit 1-year survival probability for patients with azole-resistant and azole-susceptible invasive aspergillosis Conclusion Azole-resistance in IA is associated with worse outcome, especially in critically ill patients. Susceptibility testing should be considered in patients with a suspected azole-resistant IA to support treatment decisions. Disclosures Danila Seidel, PhD, Basilea (Other Financial or Material Support, travel grant) Oliver Cornely, Prof., Actelion (Grant/Research Support)Actelion (Other Financial or Material Support, Personal fees)Al Jazeera Pharmaceuticals (Consultant)Allecra Therapeutics (Other Financial or Material Support, Personal fees)Amplyx (Other Financial or Material Support, Personal fees)Amplyx (Grant/Research Support)Astellas (Grant/Research Support)Astellas (Other Financial or Material Support, Personal fees)Basilea (Other Financial or Material Support, Personal fees)Basilea (Grant/Research Support)Biosys UK Limited (Other Financial or Material Support, Personal fees)Cidara (Other Financial or Material Support, Personal fees)Cidara (Grant/Research Support)Da Volterra (Grant/Research Support)Da Volterra (Other Financial or Material Support, Personal fees)Entasis (Other Financial or Material Support, Personal fees)F2G (Other Financial or Material Support)F2G (Grant/Research Support)Gilead (Grant/Research Support)Gilead (Other Financial or Material Support, Personal fees)Grupo Biotoscana (Other Financial or Material Support, Personal fees)Janssen Pharmaceuticals (Grant/Research Support)Matinas (Other Financial or Material Support, Personal fees)Medicines Company (Grant/Research Support)MedPace (Grant/Research Support)MedPace (Other Financial or Material Support, Personal fees)Melinta Therapeutics (Grant/Research Support)Menarini Ricerche (Other Financial or Material Support, Personal fees)Merck/MSD (Other Financial or Material Support, Personal fees)Merck/MSD (Grant/Research Support)Mylan Pharmaceuticals (Consultant)Nabriva Therapeutics (Other Financial or Material Support, Personal fees)Octapharma (Other Financial or Material Support, Personal fees)Paratek Pharmaceuticals (Other Financial or Material Support, Personal fees)Pfizer (Other Financial or Material Support, Personal fees)Pfizer (Grant/Research Support)PSI (Other Financial or Material Support, Personal fees)Rempex (Other Financial or Material Support, Personal fees)Roche Diagnostics (Other Financial or Material Support, Personal fees)Scynexis (Other Financial or Material Support, Personal fees)Scynexis (Grant/Research Support)Seres Therapeutics (Other Financial or Material Support, Personal fees)Tetraphase (Other Financial or Material Support, Personal fees) Philipp Koehler, MD, Akademie für Infektionsmedizin e.V., (Other Financial or Material Support, Personal fees)Astellas Pharma GmbH (Other Financial or Material Support, Personal fees)Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany (Other Financial or Material Support, Other)Gilead Sciences GmbH (Other Financial or Material Support, Personal fees)GPR Academy Ruesselsheim (Speaker’s Bureau)Miltenyi Biotec GmbH (Other Financial or Material Support, Non-financial support)MSD Sharp & Dohme GmbH (Other Financial or Material Support, Personal fees)Noxxon N.V. (Speaker’s Bureau)University Hospital, LMU Munich (Other Financial or Material Support, Personal fees) Katrien Lagrou, n/a, FUJIFILM WAKO (Speaker’s Bureau)Gilead (Consultant, Speaker’s Bureau)MSD (Consultant, Speaker’s Bureau, Other Financial or Material Support, travel grant)Pfizer (Speaker’s Bureau, travel grant)SMB Laboratoires Brussels (Consultant) Zdenek Racil, n/a, Astellas (Grant/Research Support, Speaker’s Bureau, travel grant) Blandine Rammaert, n/a, Gilead (Speaker’s Bureau, Other Financial or Material Support, travel grant)Merck/MSD (Speaker’s Bureau)Pfizer (Other Financial or Material Support, travel grant) Nikolay Klimko, n/a, Astellas (Speaker’s Bureau)Gilead (Speaker’s Bureau)Merck/MSD (Speaker’s Bureau)Pfizer (Speaker’s Bureau) Sung-Yeon Cho, MD, Gilead (Grant/Research Support, Speaker’s Bureau)Merck Sharp & Dohme (Grant/Research Support, Speaker’s Bureau)Pfizer (Grant/Research Support, Speaker’s Bureau)

Published
2020

9. The first two cases of candida auris in the Netherlands

Author

Rosa van Mansfeld, Karin D. van Dijk, Jacques F. Meis, Annemarie J.L. Weersink, Nancy A. Chow, Erik H Vogelzang, Medical Microbiology and Infection Prevention, AII - Infectious diseases, and AII - Inflammatory diseases

Subjects
Microbiology (medical), medicine.medical_specialty, Case Report, Plant Science, 03 medical and health sciences, 0302 clinical medicine, Intensive care, emergence, Medicine, Infection control, 030212 general & internal medicine, Admission screening, lcsh:QH301-705.5, Ecology, Evolution, Behavior and Systematics, 0303 health sciences, 030306 microbiology, Transmission (medicine), business.industry, molecular typing, infection prevention, Outbreak, Candida auris, candida auris, Contact precautions, lcsh:Biology (General), Pathogenic yeast, Emergency medicine, business
Abstract

Candida auris is a rapidly emerging multidrug-resistant pathogenic yeast. In recent years, an increasing number of C. auris invasive infections and colonized patients have been reported, and C. auris has been associated with hospital outbreaks worldwide, mainly in intensive care units (ICUs). Here, we describe the first two cases of C. auris in The Netherlands. Both cases were treated in a healthcare facility in India prior to admission. The patients were routinely placed in contact precautions in a single room after admission, which is common practice in The Netherlands for patients with hospitalization outside The Netherlands. No transmission of C. auris was noticed in both hospitals. Routine admission screening both for multidrug-resistant (MDR) bacteria and MDR yeasts should be considered for patients admitted from foreign hospitals or countries with reported C. auris transmission.

Published
2019

10. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Author

Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, Aude Nicolas, Florence Cormier-Dequaire, Sidi Mohamed Hassoun, Claire Pujol, Sorana Ciura, Zoi Erpapazoglou, Tatiana Usenko, Claude-Alain Maurage, Mourad Sahbatou, Stefan Liebau, Jinhui Ding, Basar Bilgic, Murat Emre, Nihan Erginel-Unaltuna, Gamze Guven, François Tison, Christine Tranchant, Marie Vidailhet, Jean-Christophe Corvol, Paul Krack, Anne-Louise Leutenegger, Michael A. Nalls, Dena G. Hernandez, Peter Heutink, J. Raphael Gibbs, John Hardy, Nicholas W. Wood, Thomas Gasser, Alexandra Durr, Jean-François Deleuze, Meriem Tazir, Alain Destée, Ebba Lohmann, Edor Kabashi, Andrew Singleton, Olga Corti, Alexis Brice, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, Alexandra Dürr, Franck Durif, Stephan Klebe, Maria Martinez, Pierre Pollak, Olivier Rascol, Marc Vérin, François Viallet, Jean Christophe Corvol, Sampath Arepalli, Roger A. Barker, Yoav Ben-Shlomo, Daniela Berg, Francesco Bettella, Kailash Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bastiaan R. Bloem, Zoltan Bochdanovits, Michael Bonin, Jose M. Bras, Kathrin Brockmann, Janet Brooks, David J. Burn, Gavin Charlesworth, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E. Clarke, Mark R. Cookson, Carl Counsell, Jean-François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, Jing Dong, Frank Durif, Sarah Edkins, Valentina Escott-Price, Jonathan R. Evans, Thomas Foltynie, Jianjun Gao, Michelle Gardner, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert Hollenbeck, Peter Holmans, Janice Holton, Michèle Hu, Xuemei Huang, Heiko Huber, Gavin Hudson, Sarah E. Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Laura L. Kilarski, Iris E. Jansen, Jean-Charles Lambert, Cordelia Langford, Andrew Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Steven Lubbe, Codrin Lungu, María Martinez, Walter Mätzler, Alisdair McNeill, Catriona Moorby, Matthew Moore, Karen E. Morrison, Ese Mudanohwo, Sean S. O’Sullivan, Michael J. Owen, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Vincent Plagnol, Bart Post, Simon Potter, Bernard Ravina, Tamas Revesz, Olaf Riess, Fernando Rivadeneira, Patrizia Rizzu, Mina Ryten, Mohamad Saad, Javier Simón-Sánchez, Stephen Sawcer, Anthony Schapira, Hans Scheffer, Claudia Schulte, Manu Sharma, Karen Shaw, Una-Marie Sheerin, Ira Shoulson, Joshua Shulman, Ellen Sidransky, Chris C.A. Spencer, Hreinn Stefánsson, Kári Stefánsson, Joanna D. Stockton, Amy Strange, Kevin Talbot, Carlie M. Tanner, Avazeh Tashakkori-Ghanbaria, Daniah Trabzuni, Bryan J. Traynor, André G. Uitterlinden, Daan Velseboer, Robert Walker, Bart van de Warrenburg, Mirdhu Wickremaratchi, Caroline H. Williams-Gray, Sophie Winder-Rhodes, Isabel Wurster, Nigel Williams, Huw R. Morris, Andrew B. Singleton, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Complex Trait Genetics, Neurology, Graduate School, ANS - Cellular & Molecular Mechanisms, Krack, Paul, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Neurodegenerative Diseases, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Laboratory of Neurogenetics, National Institute of Aging, Département d'histologie et de pathologie, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), CHU Pitié-Salpêtrière [AP-HP], Fondation Jean Dausset CEPH, Institute of Neuroanatomy, Department of Neurology, Behavioural Neurology and Movement Disorders Unit, Istanbul Faculty of Medicine, Istanbul University, Department of Genetics, Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Pôle Tête-Cou-CETD, Les Hôpitaux Universitaires de Strasbourg (HUS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7), Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, Department of Molecular Neuroscience, University College of London [London] (UCL)-Institute of Neurology, Service de génétique, cytogénétique, embryologie [Pitié-Salpétrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Commissariat à l'Energie Atomique Saclay, Service de Neurologie, CHU Mustapha, Movement Disorders Unit, HAL-UPMC, Gestionnaire, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-P 1421), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de génétique, cytogénétique, embryologie [CHU Pitié-Salpétrière], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

Subjects
0301 basic medicine, Male, Turkey, parkin protein, Mitochondrion, Compound heterozygosity, Parkin, Proteins/*genetics/metabolism, Consanguinity, 0302 clinical medicine, diagnosis [Parkinsonian Disorders], Mitophagy, Genetics(clinical), metabolism [Protein Kinases], Cognitive decline, Genetics (clinical), Exome sequencing, genetics [Ubiquitin-Protein Ligases], Genetics, Parkinsonism, genetics [Protein Kinases], Homozygote, metabolism [Proteins], Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Phenotype, genetics [Parkinsonian Disorders], COS Cells, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Parkinsonian Disorders/diagnosis/*genetics, Protein Kinases/*genetics/metabolism, PTEN-induced putative kinase, Adult, Heterozygote, Mitochondrial Degradation/*genetics, Ubiquitin-Protein Ligases, PINK1, Biology, VPS13C protein, human, 03 medical and health sciences, Genetic Heterogeneity, metabolism [Ubiquitin-Protein Ligases], Parkinsonian Disorders, ddc:570, medicine, Animals, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Gene Silencing, Aged, Proteins, Reproducibility of Results, medicine.disease, genetics [Proteins], ddc:616.8, Ubiquitin-Protein Ligases/*genetics/metabolism, 030104 developmental biology, HEK293 Cells, Case-Control Studies, Protein Kinases, 030217 neurology & neurosurgery, genetics [Mitophagy]
Abstract

Contains fulltext : 167923.pdf (Publisher’s version ) (Open Access) Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.

Published
2016

11. Parkinson’s disease, temporomandibular disorder pain and bruxism and its clinical consequences: a protocol of a single-centre observational outpatient study

Author

Henk W Berendse, Karin D van Dijk, Merel Charlotte Verhoeff, Michail Koutris, and F Lobbezoo

Subjects
Medicine
Abstract

Introduction A recent questionnaire-based study suggested that bruxism and painful temporomandibular disorders (TMD pain) may be more prevalent in patients with Parkinson’s disease (PD) compared with controls. The presence of both bruxism and TMD pain may negatively influence patients’ quality of life. The present study is designed to clinically and more objectively investigate the presence of bruxism and TMD pain in patients with PD. The secondary aim of the study is to identify factors associated with bruxism and TMD pain in patients with PD, such as disease severity and dopaminergic medication usage. Furthermore, the presence of tooth wear in patients with PD will be studied as this can be a major consequence of bruxism. Finally, deviations in saliva composition that may contribute to tooth wear will be studied.Methods and analysis This is a single-centre observational outpatient study at the Amsterdam University Medical Centres, location VUmc. All patients with a clinical diagnosis of PD will be eligible for inclusion. Participants will fill in a set of questionnaires. Subsequently, patients will be examined clinically for, among others, TMD pain, presence and severity of tooth wear, and deviations in saliva composition. Sleep-time registrations will take place for 5 nights with the GrindCare GC4 (ie, a portable, single-channel electromyographic recorder) to assess sleep bruxism and simultaneously by the use of the BruxApp for 5 days to assess awake bruxism. We will partly use data collected during standard clinical care to minimise patient burden.Ethics and dissemination The scientific and ethical aspects of this study protocol have been approved by the Medical Ethics Review Committee of the Amsterdam UMC, location VUmc; NL. 2019.143. Informed consent will be obtained from all participants. The results will be published in a peer-reviewed journal, if relevant presented at conferences, and published as part of a PhD thesis.Trial registration number NL8307.

Published
2022
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