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11. Measuring saccades in patients with Niemann-Pick type C: A comparison between video-oculography and a novel eye tracking test based on continuous psychophysics

Author

Grillini, A., Koens, L. H., Lizaitienė, Gintautė, Lange, F., Cornelissen, F. W., Tijssen, M. A.J., Perceptual and Cognitive Neuroscience (PCN), and Movement Disorder (MD)

Subjects
Cellular and Molecular Neuroscience, VOG, Eye movement disorders, Niemann-Pick type C, SONDA, Vertical supranuclear gaze palsy, Neurology (clinical)
Abstract

Introduction: Vertical supranuclear gaze palsy is a key feature of Niemann-Pick type C (NP-C) and is commonly quantified using video-oculography (VOG). VOG requires sitting still for long times and performing specific tasks, thus it can be challenging or impossible for patients severely affected by movement disorders or cognitive impairment. To overcome this limitation, we measure saccades of NP-C patients using a fast eye tracking test based on continuous psychophysics and compare it to VOG. Methods: Saccades of six NP-C patients and six age-matched controls were assessed using VOG and Standardized Oculomotor and Neuro-ophthalmic Disorders Assessment (SONDA). In SONDA, participants continuously track a semi-randomly moving dot on a computer screen while their gaze is being tracked. For both assessments, saccades were quantified using four conventional measures: amplitude, gain, latency, and peak velocity. Furthermore, SONDA's continuous measures were quantified with several novel spatio-temporal properties. Results: In the NP-C patients, both methods revealed reduced amplitude, gain, peak velocity, and increased latency of vertical saccades compared to horizontal saccades and compared to healthy controls. Effect sizes obtained with SONDA were overall larger than those for VOG. SONDA's spatio-temporal properties showed similar trends. Conclusion: SONDA reveals a deterioration of vertical saccades in NP-C patients that is consistent with VOG. SONDA's measures based on continuous psychophysics are consistent with traditional saccadic parameters and can potentially provide complementary information. SONDA shows larger effect sizes than VOG, suggesting that it provides robust and clinically relevant outcomes with a more intuitive task and shorter testing time.

Published
2022

16. Functional or not functional; that’s the question

Author

Lagrand, T., Tuitert, I., Klamer, M., van der Meulen, A., van der Palen, J., Kramer, G., and Tijssen, M.

Subjects
FMD, prediction model, Cohort Studies, Movement Disorders, Phenotype, functional movement disorders, Humans, Pain, Original Article, All Neurologists, clinical characteristics, associated features, Retrospective Studies
Abstract

Background and purpose Functional movement disorders (FMDs) pose a diagnostic challenge for clinicians. Over the years several associated features have been shown to be suggestive for FMDs. Which features mentioned in the literature are discriminative between FMDs and non‐FMDs were examined in a large cohort. In addition, a preliminary prediction model distinguishing these disorders was developed based on differentiating features. Method Medical records of all consecutive patients who visited our hyperkinetic outpatient clinic from 2012 to 2019 were retrospectively reviewed and 12 associated features in FMDs versus non‐FMDs were compared. An independent t test for age of onset and Pearson chi‐squared analyses for all categorical variables were performed. Multivariate logistic regression analysis was performed to develop a preliminary predictive model for FMDs. Results A total of 874 patients were eligible for inclusion, of whom 320 had an FMD and 554 a non‐FMD. Differentiating features between these groups were age of onset, sex, psychiatric history, family history, more than one motor phenotype, pain, fatigue, abrupt onset, waxing and waning over long term, and fluctuations during the day. Based on these a preliminary predictive model was computed with a discriminative value of 91%. Discussion Ten associated features are shown to be not only suggestive but also discriminative between hyperkinetic FMDs and non‐FMDs. Clinicians can use these features to identify patients suspected for FMDs and can subsequently alert them to test for positive symptoms at examination. Although a first preliminary model has good predictive accuracy, further validation should be performed prospectively in a multi‐center study.

Published
2020

18. STOOL-BASED TESTING TO REDUCE THE NUMBER OF UNNECESSARY SURVEILLANCE COLONOSCOPIES: THE MOCCAS STUDY

Author

Carvalho, B., additional, de Klaver, W., additional, van Wifferen, F., additional, van Lanschot, M., additional, van de Wetering, A.J.P., additional, van der Zander, Q.E.W., additional, Lemmens, G.M., additional, Bolijn, A.S., additional, Tijssen, M., additional, Delis-van Diemen, P., additional, Buekers, N., additional, Daenen, K., additional, van der Meer, J., additional, van Mulligen, P.G., additional, Hijmans, B., additional, de Ridder, S., additional, van der Hulst, R.W.M., additional, Kuijvenhoven, J.P., additional, van Berkel, A.-M., additional, Depla, A.C.T.M., additional, van Leerdam, M.E., additional, Jansen, J.M., additional, Wientjes, C.A., additional, Straathof, J.W.A, additional, Keulen, E.T.P., additional, Ramsoekh, D., additional, Moons, L.M.G., additional, Berger, B.M., additional, Lidgard, G.P., additional, Zacherl, M., additional, Masclee, A.A.M., additional, Greuter, M.J.E., additional, Coupé, V.M.H., additional, van Engeland, M., additional, Dekker, E., additional, and Meijer, G.A., additional

Published
2022
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21. Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes

Author

Valadas, A., Contarino, M-F., Albanese, A., Bhatia, K. P., Falup-Pecurariu, C., Forsgren, L., Friedman, A., Giladi, N., Hutchinson, M., Kostic, V. S., Krauss, J. K., Lokkegaard, A., Marti, M. J., Milanov, I., Pirtosek, Z., Relja, M., Skorvanek, M., Stamelou, M., Stepens, A., Tamás, G., Taravari, A., Tzoulis, C., Vandenberghe, W., Vidailhet, M., Ferreira, J. J., and Tijssen, M. A.

Published
2016
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22. Molecular characterization of colorectal adenomas reveals POFUT1 as a candidate driver of tumor progression

Author

Komor, MA, Wit, M, Berg, J, de Kemp, SRM, Delis-van Diemen, PM, Bolijn, AS, Tijssen, M, Schelfhorst, T, Piersma, SR, Chiasserini, D, Sanders, J, Rausch, C, Hoogstrate, Youri, Stubbs, Andrew, Jong, M, Jenster, Guido, Carvalho, B, Meijer, GA, Jimenez, CR, Fijneman, RJA, Dits, Natasja, Böttcher, René, Hiemstra, AC, Ylstra, B, Sie, D, Broek, E, van Grieken, N, Meer, D, Pepers, F, Caldenhoven, E, Janssen, B, van Workum, W, van Lieshout, S, Bangma, C.H., van Leenders, Arno, van de Werken, Harmen, Urology, Pathology, Medical oncology laboratory, CCA - Cancer biology and immunology, and AGEM - Re-generation and cancer of the digestive system

Subjects
Adenoma, Cancer Research, Colorectal cancer, Notch signaling pathway, adenoma-to-carcinoma progression, colorectal adenoma, POFUT1, Biomarkers, Tumor, Carcinoma, Colorectal Neoplasms, Disease Progression, Fucosyltransferases, Humans, Oncogene Proteins, Reproducibility of Results, Tumor Microenvironment, Colorectal adenoma, Biology, Molecular Cancer Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, PI3K/AKT/mTOR pathway, Tumor microenvironment, Tumor, Tissue microarray, Wnt signaling pathway, medicine.disease, digestive system diseases, Oncology, Tumor progression, 030220 oncology & carcinogenesis, Cancer research, Biomarkers, adenoma‐to‐carcinoma progression
Abstract

Removal of colorectal adenomas is an effective strategy to reduce colorectal cancer (CRC) mortality rates. However, as only a minority of adenomas progress to cancer, such strategies may lead to overtreatment. The present study aimed to characterize adenomas by in‐depth molecular profiling, to obtain insights into altered biology associated with the colorectal adenoma‐to‐carcinoma progression. We obtained low‐coverage whole genome sequencing, RNA sequencing and tandem mass spectrometry data for 30 CRCs, 30 adenomas and 18 normal adjacent colon samples. These data were used for DNA copy number aberrations profiling, differential expression, gene set enrichment and gene‐dosage effect analysis. Protein expression was independently validated by immunohistochemistry on tissue microarrays and in patient‐derived colorectal adenoma organoids. Stroma percentage was determined by digital image analysis of tissue sections. Twenty‐four out of 30 adenomas could be unambiguously classified as high risk (n = 9) or low risk (n = 15) of progressing to cancer, based on DNA copy number profiles. Biological processes more prevalent in high‐risk than low‐risk adenomas were related to proliferation, tumor microenvironment and Notch, Wnt, PI3K/AKT/mTOR and Hedgehog signaling, while metabolic processes and protein secretion were enriched in low‐risk adenomas. DNA copy number driven gene‐dosage effect in high‐risk adenomas and cancers was observed for POFUT1, RPRD1B and EIF6. Increased POFUT1 expression in high‐risk adenomas was validated in tissue samples and organoids. High POFUT1 expression was also associated with Notch signaling enrichment and with decreased goblet cells differentiation. In‐depth molecular characterization of colorectal adenomas revealed POFUT1 and Notch signaling as potential drivers of tumor progression., What's new? Removal of colorectal adenomas is an effective strategy to reduce colorectal cancer (CRC) mortality rates. However, as only a minority of adenomas progress to cancer, such strategies may lead to overtreatment. While high‐risk adenomas, defined by specific DNA copy number aberrations, have an increased risk of progression, the mechanisms underlying colorectal adenoma‐to‐carcinoma progression remain unclear. This molecular characterization of colorectal adenomas, CRCs, and normal adjacent colon samples demonstrates that biological processes inherent to CRC are already more active in high‐risk adenomas compared to low‐risk adenomas. Moreover, the findings highlight POFUT1 and Notch signaling as potential drivers of colorectal tumor development.

Published
2020
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43. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Author

Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C., Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), 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)-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 National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, 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)-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), and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

Subjects
Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders
Abstract

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on average. However, we observe considerable variability in expansion length and structure, supporting the existence of multiple expansion configurations in blood cells and fibroblasts of the same individual. Moreover, the largest expansions are associated with micro-rearrangements occurring near the expansion in 20% of cells. This study provides further evidence that FAME is caused by intronic TTTTA/TTTCA expansions in distinct genes and reveals that expansions exhibit an unexpectedly high somatic instability that can ultimately result in genomic rearrangements., Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.

Published
2019
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44. Worldwide barriers to genetic testing for movement disorders

Author

Gatto, E. M., Walker, R. H., Gonzalez, C., Cesarini, M., Cossu, G., Stephen, C. D., Balint, B., Rodriguez-Violante, M., Jankovic, J., Morgante, F., Jinnah, H. A., Albanese, A., Amorin, I., Bhatia, K., Brandabur, M., Canals, F., Cardoso, F., Cardozo, A., Carvalho, V., Chade, A., Chana, P., Darling, A., Correia Guedes, L., De la Cerda, A., de Koning-Tijssen, M., Della Coletta, M. V., Duquette, A., Espay, A., Etcheverry, J., Ferreira, J., Friedman, J., Fung, V., Ganos, C., Ruiz, P. G., Gershanik, O., Gross, K. B. V., Han-Joon, K., Kaji, R., Kotschet, K., Rosa, A. L. D., Litvan, I., Lubarr, N., Marano, M., Josep Marti, M., Martinez Ramirez, D., Miyasaki, J., Munchau, A., Chesta, D. M., Pal, P., Peralta, M. C., Phielipp, N., Maria Riboldi, G., Oroz, M. C. R., Rodriguez-Porcel, F., Sarva, H., Schoels, L., Stamelou, M., and Uribe Roca, C.

Subjects
Asia, Movement disorders, Disease, Limited access, Middle East, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Testing, 030212 general & internal medicine, Public funding, Genetic testing, Dystonia, Movement Disorders, medicine.diagnostic_test, business.industry, Chorea, medicine.disease, Europe, Neurology, Neurology (clinical), medicine.symptom, business, chorea, dystonia, genetic and inherited disorders, genetic diagnosis, genetic testing, movement disorders, Parkinson's disease, whole exome sequencing, 030217 neurology & neurosurgery, Demography
Abstract

Author(s): Gatto, Emilia M; Walker, Ruth H; Gonzalez, Claudio; Cesarini, Martin; Cossu, Giovanni; Stephen, Christopher D; Balint, Bettina; Rodriguez-Violante, Mayela; Jankovic, Joseph; Morgante, Francesca; Jinnah, Hyder A; Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society | Abstract: Background and purposeDespite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.MethodsThe Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.ResultsSurvey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.ConclusionsThis survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.

Published
2021

48. Correction: Automatic detection of break-over phase onset in horses using hoof-mounted inertial measurement unit sensors

Author

Tijssen, M., Hernlund, E., Rhodin, M., Bosch, S., Voskamp, J. P., Nielen, M., Serra Braganςa, F. M., FAH Evidence based Veterinary Medicine, dFAH AVR, Afd Algemeen Paard, Hafd Onderwijsadvies en training, and Pervasive Systems

Subjects
Hoof and Claw, Inertia, Physiology, Velocity, Biosensing Techniques, Walking, 0403 veterinary science, Gait (human), Medical Bioscience, Medicine and Health Sciences, Musculoskeletal Diseases, Musculoskeletal System, Mammals, Multidisciplinary, Feet, Physics, Applied Mathematics, Simulation and Modeling, Classical Mechanics, Eukaryota, 04 agricultural and veterinary sciences, Biomechanical Phenomena, Signal Filtering, Warmblood, Physical Sciences, Vertebrates, Medicine, Legs, Engineering and Technology, Anatomy, Wireless Technology, Algorithms, Research Article, Materials science, 040301 veterinary sciences, Hoof, Science, Acoustics, Musculoskeletal Physiological Phenomena, Acceleration, Equines, Phase (waves), Angular velocity, Research and Analysis Methods, Motion, Inertial measurement unit, Animals, Force platform, Horses, Biological Locomotion, 0402 animal and dairy science, Organisms, Correction, Biology and Life Sciences, Toes, 040201 dairy & animal science, Body Limbs, Amniotes, Signal Processing, Horse Diseases, Mathematics
Abstract

A prolonged break-over phase might be an indication of a variety of musculoskeletal disorders and can be measured with optical motion capture (OMC) systems, inertial measurement units (IMUs) and force plates. The aim of this study was to present two algorithms for automatic detection of the break-over phase onset from the acceleration and angular velocity signals measured by hoof-mounted IMUs in walk and trot on a hard surface. The performance of these algorithms was evaluated by internal validation with an OMC system and a force plate separately. Seven Warmblood horses were equipped with two wireless IMUs which were attached to the lateral wall of the right front (RF) and hind (RH) hooves. Horses were walked and trotted over a force plate for internal validation while simultaneously the 3D position of three reflective markers, attached to lateral heel, lateral toe and lateral coronet of each hoof, were measured by six infrared cameras of an OMC system. The performance of the algorithms was evaluated by linear mixed model analysis. The acceleration algorithm was the most accurate with an accuracy between -9 and 23 ms and a precision around 24 ms (against OMC system), and an accuracy between -37 and 20 ms and a precision around 29 ms (against force plate), depending on gait and hoof. This algorithm seems promising for quantification of the break-over phase onset although the applicability for clinical purposes, such as lameness detection and evaluation of trimming and shoeing techniques, should be investigated more in-depth.

Published
2020

49. Correction: Automatic hoof-on and -off detection in horses using hoof-mounted inertial measurement unit sensors

Author

Tijssen, M., Hernlund, E.L., Rhodin, Marie, Bosch, Stephan, voskamp, john P., Nielen, M., Serra Braganca, F.M., Equine Musculoskeletal Biology, dES RMSC, FAH Evidence based Veterinary Medicine, dFAH AVR, Equine Musculoskeletal Biology, dES RMSC, FAH Evidence based Veterinary Medicine, dFAH AVR, and Pervasive Systems

Subjects
Male, Hoof and Claw, Inertial frame of reference, Inertia, Physiology, Computer science, Velocity, Walking, 01 natural sciences, Phase Determination, Running, 0403 veterinary science, 010104 statistics & probability, Gait (human), Medical Bioscience, Forelimb, Medicine and Health Sciences, Gait, media_common, Mammals, Multidisciplinary, Physics, Applied Mathematics, Simulation and Modeling, Classical Mechanics, Eukaryota, 04 agricultural and veterinary sciences, Biomechanical Phenomena, Hindlimb, Warmblood, Physical Sciences, Vertebrates, Crystallographic Techniques, Medicine, Female, Gait Analysis, Wireless Technology, Algorithms, Research Article, 040301 veterinary sciences, Hoof, media_common.quotation_subject, Acoustics, Science, Equines, Acceleration, Angular velocity, Research and Analysis Methods, Motion, Inertial measurement unit, Animals, Horses, 0101 mathematics, Biological Locomotion, Organisms, Biology and Life Sciences, Correction, Gait analysis, Amniotes, Remote Sensing Technology, Linear Models, Mathematics, Biomedical engineering
Abstract

For gait classification, hoof-on and hoof-off events are fundamental locomotion characteristics of interest. These events can be measured with inertial measurement units (IMUs) which measure the acceleration and angular velocity in three directions. The aim of this study was to present two algorithms for automatic detection of hoof-events from the acceleration and angular velocity signals measured by hoof-mounted IMUs in walk and trot on a hard surface. Seven Warmblood horses were equipped with two wireless IMUs, which were attached to the lateral wall of the right front (RF) and hind (RH) hooves. Horses were walked and trotted on a lead over a force plate for internal validation. The agreement between the algorithms for the acceleration and angular velocity signals with the force plate was evaluated by Bland Altman analysis and linear mixed model analysis. These analyses were performed for both hoof-on and hoof-off detection and for both algorithms separately. For the hoof-on detection, the angular velocity algorithm was the most accurate with an accuracy between 2.39 and 12.22 ms and a precision of around 13.80 ms, depending on gait and hoof. For hoof-off detection, the acceleration algorithm was the most accurate with an accuracy of 3.20 ms and precision of 6.39 ms, independent of gait and hoof. These algorithms look highly promising for gait classification purposes although the applicability of these algorithms should be investigated under different circumstances, such as different surfaces and different hoof trimming conditions.

Published
2020

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