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1. Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.

Author

Potashman, Michele, Rudell, Katja, Pavisic, Ivanna, Suminski, Naomi, Doma, Rinchen, Heinrich, Maggie, Abetz-Webb, Linda, Beiner, Melissa, Kuo, Sheng-Han, Rosenthal, Liana, Zesiwicz, Theresa, Fife, Terry, van de Warrenburg, Bart, Ristori, Giovanni, Synofzik, Matthis, Perlman, Susan, Schmahmann, Jeremy, and LItalien, Gilbert

Subjects
Clinical outcome assessment, Cognitive debriefing, Concept elicitation, Spinocerebellar ataxia, f-SARA, Humans, Spinocerebellar Ataxias, Male, Female, Middle Aged, Adult, Severity of Illness Index, Reproducibility of Results, Aged, Gait, Disease Progression
Abstract

The functional Scale for the Assessment and Rating of Ataxia (f-SARA) assesses Gait, Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure of spinocerebellar ataxia (SCA) progression for clinical trial use. Here, we evaluated content validity of the f-SARA. Qualitative interviews were conducted among individuals with SCA1 (n = 1) and SCA3 (n = 6) and healthcare professionals (HCPs) with SCA expertise (USA, n = 5; Europe, n = 3). Interviews evaluated symptoms and signs of SCA and relevance of f-SARA concepts for SCA. HCP cognitive debriefing was conducted. Interviews were recorded, transcribed, coded, and analyzed by ATLAS.TI software. Individuals with SCA1 and 3 reported 85 symptoms, signs, and impacts of SCA. All indicated difficulties with walking, stance, balance, speech, fatigue, emotions, and work. All individuals with SCA1 and 3 considered Gait, Stance, and Speech relevant f-SARA concepts; 3 considered Sitting relevant (42.9%). All HCPs considered Gait and Speech relevant; 5 (62.5%) indicated Stance was relevant. Sitting was considered a late-stage disease indicator. Most HCPs suggested inclusion of appendicular items would enhance clinical relevance. Cognitive debriefing supported clarity and comprehension of f-SARA. Maintaining current abilities on f-SARA items for 1 year was considered meaningful for most individuals with SCA1 and 3. All HCPs considered meaningful changes as stability in f-SARA score over 1-2 years, 1-2-point change in total f-SARA score, and deviation from natural history. These results support content validity of f-SARA for assessing SCA disease progression in clinical trials.

Published
2024

2. Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.

Author

Németh, Andrea, Antoniades, Chrystalina, Dukart, Juergen, Minnerop, Martina, Rentz, Clara, Schuman, Bart-Jan, van de Warrenburg, Bart, Willemse, Ilse, Bertini, Enrico, Gupta, Anoopum, de Mello Monteiro, Carlos, Almoajil, Hajar, Quinn, Lori, Horak, Fay, Ilg, Winfried, Traschütz, Andreas, Vogel, Adam, Dawes, Helen, and Perlman, Susan

Subjects
Ataxia, Digital motor performance outcome measures, Internal smartphone Sensors, Humans, Smartphone, Consensus, Delphi Technique, Ataxia, Biomarkers, Clinical Trials as Topic
Abstract

Smartphone sensors are used increasingly in the assessment of ataxias. To date, there is no specific consensus guidance regarding a priority set of smartphone sensor measurements, or standard assessment criteria that are appropriate for clinical trials. As part of the Ataxia Global Initiative Digital-Motor Biomarkers Working Group (AGI WG4), aimed at evaluating key ataxia clinical domains (gait/posture, upper limb, speech and oculomotor assessments), we provide consensus guidance for use of internal smartphone sensors to assess key domains. Guidance was developed by means of a literature review and a two stage Delphi study conducted by an Expert panel, which surveyed members of AGI WG4, representing clinical, research, industry and patient-led experts, and consensus meetings by the Expert panel to agree on standard criteria and map current literature to these criteria. Seven publications were identified that investigated ataxias using internal smartphone sensors. The Delphi 1 survey ascertained current practice, and systems in use or under development. Wide variations in smartphones sensor use for assessing ataxia were identified. The Delphi 2 survey identified seven measures that were strongly endorsed as priorities in assessing 3/4 domains, namely gait/posture, upper limb, and speech performance. The Expert panel recommended 15 standard criteria to be fulfilled in studies. Evaluation of current literature revealed that none of the studies met all criteria, with most being early-phase validation studies. Our guidance highlights the importance of consensus, identifies priority measures and standard criteria, and will encourage further research into the use of internal smartphone sensors to measure ataxia digital-motor biomarkers.

Published
2024

3. An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study

Author

Scaravilli, Alessandra, Gabusi, Ilaria, Mari, Gaia, Battocchio, Matteo, Bosticardo, Sara, Schiavi, Simona, Bender, Benjamin, Kessler, Christoph, Brais, Bernard, La Piana, Roberta, van de Warrenburg, Bart P., Cosottini, Mirco, Timmann, Dagmar, Daducci, Alessandro, Schüle, Rebecca, Synofzik, Matthis, Santorelli, Filippo Maria, and Cocozza, Sirio

Published
2024
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4. Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration

Author

Ferreira, Mónica, Schaprian, Tamara, Kügler, David, Reuter, Martin, Deike-Hoffmann, Katharina, Timmann, Dagmar, Ernst, Thomas M., Giunti, Paola, Garcia-Moreno, Hector, van de Warrenburg, Bart, van Gaalen, Judith, de Vries, Jeroen, Jacobi, Heike, Steiner, Katharina Marie, Öz, Gülin, Joers, James M., Onyike, Chiadi, Povazan, Michal, Reetz, Kathrin, Romanzetti, Sandro, Klockgether, Thomas, and Faber, Jennifer

Published
2024
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7. The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy

Author

Weber, Jonasz J., Czisch, Leah, Pereira Sena, Priscila, Fath, Florian, Huridou, Chrisovalantou, Schwarz, Natasa, Incebacak Eltemur, Rana D., Würth, Anna, Weishäupl, Daniel, Döcker, Miriam, Blumenstock, Gunnar, Martins, Sandra, Sequeiros, Jorge, Rouleau, Guy A., Jardim, Laura Bannach, Saraiva-Pereira, Maria-Luiza, França, Jr., Marcondes C., Gordon, Carlos R., Zaltzman, Roy, Cornejo-Olivas, Mario R., van de Warrenburg, Bart P. C., Durr, Alexandra, Brice, Alexis, Bauer, Peter, Klockgether, Thomas, Schöls, Ludger, Riess, Olaf, and Schmidt, Thorsten

Published
2024
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8. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Author

Nanetti, Lorenzo, Kearney, Mary, Boesch, Sylvia, Stovickova, Lucie, Ortigoza-Escobar, Juan Darío, Macaya, Alfons, Gomez-Andres, David, Roze, Emmanuel, Molnar, Maria-Judit, Wolf, Nicole I., Darling, Alejandra, Vasco, Gessica, Bertini, Enrico, Indelicato, Elisabetta, Neubauer, David, Haack, Tobias B., Sagi, Judit C., Danti, Federica R., Sival, Deborah, Zanni, Ginevra, Kolk, Anneli, Boespflug-Tanguy, Odile, Schols, Ludger, van de Warrenburg, Bart, Vidailhet, Marie, Willemsen, Michèl A., Buizer, Annemieke I., Orzes, Enrico, Ripp, Sophie, Reinhard, Carola, Moroni, Isabella, and Mariotti, Caterina

Published
2024
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10. Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration

Author

Ferreira, Mónica, Schaprian, Tamara, Kügler, David, Reuter, Martin, Deike-Hoffmann, Katharina, Timmann, Dagmar, Ernst, Thomas M., Giunti, Paola, Garcia-Moreno, Hector, van de Warrenburg, Bart, van Gaalen, Judith, de Vries, Jeroen, Jacobi, Heike, Steiner, Katharina Marie, Öz, Gülin, Joers, James M., Onyike, Chiadi, Povazan, Michal, Reetz, Kathrin, Romanzetti, Sandro, Klockgether, Thomas, and Faber, Jennifer

Published
2024
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12. Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease

Author

Raposo, Mafalda, Hübener-Schmid, Jeannette, Tagett, Rebecca, Ferreira, Ana F., Vieira Melo, Ana Rosa, Vasconcelos, João, Pires, Paula, Kay, Teresa, Garcia-Moreno, Hector, Giunti, Paola, Santana, Magda M., Pereira de Almeida, Luis, Infante, Jon, van de Warrenburg, Bart P., de Vries, Jeroen J., Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Costa, Maria do Carmo, and Lima, Manuela

Published
2024
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13. Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Author

Hengel, Holger, Martus, Peter, Faber, Jennifer, Giunti, Paola, Garcia-Moreno, Hector, Solanky, Nita, Klockgether, Thomas, Reetz, Kathrin, van de Warrenburg, Bart P., Santana, Magda M., Silva, Patrick, Cunha, Inês, de Almeida, Luís Pereira, Timmann, Dagmar, Infante, Jon, de Vries, Jeroen, Lima, Manuela, Pires, Paula, Bushara, Khalaf, Jacobi, Heike, Onyike, Chiadi, Schmahmann, Jeremy D., Hübener-Schmid, Jeannette, Synofzik, Matthis, and Schöls, Ludger

Published
2024
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14. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Author

Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, and Horvath, Rita

Subjects
Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.

Published
2021

15. The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Author

Hengel, Holger, Martus, Peter, Faber, Jennifer, Giunit, Paola, Garcia-Moreno, Hector, Solanky, Nita, Klockgether, Thomas, Reetz, Kathrin, van de Warrenburg, Bart P., Santana, Magda M., Silva, Patrick, Cunha, Inês, de Almeida, Luís Pereira, Timmann, Dagmar, Infante, Jon, de Vries, Jeroen, Lima, Manuela, Pires, Paula, Bushara, Khalaf, Jacobi, Heike, Onyike, Chiadi, Schmahmann, Jeremy D., Hübener-Schmid, Jeannette, Synofzik, Matthis, and Schöls, Ludger

Published
2023
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23. Multimodal, Longitudinal Profiling of SCA1 Identifies Predictors of Disease Severity and Progression.

Author

van Prooije, Teije H., Kapteijns, Kirsten C.J., van Asten, Jack J.A., IntHout, Joanna, Verbeek, Marcel M., Scheenen, Tom W.J., and van de Warrenburg, Bart P.

Subjects
GLIAL fibrillary acidic protein, WHITE matter (Nerve tissue), DISEASE duration, SPINOCEREBELLAR ataxia, DISEASE progression, CEREBROSPINAL fluid, CEREBELLUM degeneration
Abstract

Objectives: Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant neurodegenerative disease. Objective surrogate markers sensitive to detect changes in disease severity are needed to reduce sample sizes in interventional trials and identification of predictors of faster disease progression would facilitate patient selection, enrichment, or stratification in such trials. Methods: We performed a prospective 1‐year longitudinal, multimodal study in 34 ataxic SCA1 individuals and 21 healthy controls. We collected clinical, patient‐reported outcomes, biochemical and magnetic resonance (MR) biomarkers at baseline and after 1 year. We determined 1‐year progression and evaluated the potential predictive value of several baseline markers on 1‐year disease progression. Results: At baseline, multiple structural and spectroscopic MR markers in pons and cerebellum differentiated SCA1 from healthy controls and correlated with disease severity. Plasma and cerebrospinal fluid (CSF) neurofilament light (NfL) chain and CSF glial fibrillary acidic protein (GFAP) were elevated in SCA1. In longitudinal analysis, total brainstem and pontine volume change, inventory of non‐ataxia signs (INAS) count, and SCA functional index (SCAFI) showed larger responsiveness compared to the Scale for Assessment and Rating of Ataxia (SARA). Longer disease duration, longer non‐expanded CAG repeat length, and higher disease burden were associated with faster SARA increase after 1‐year in the SCA1 group. Similarly, lower baseline brainstem, pontine, and cerebellar volumes, as well as lower levels of N‐acetylaspartate and glutamate in the cerebellar white matter, were also associated with faster SARA increase. Interpretation: Our results guide the selection of the most sensitive measures of disease progression in SCA1 and have identified features associated with accelerated progression that could inform the design of clinical trials. ANN NEUROL 2024;96:774–787 [ABSTRACT FROM AUTHOR]

Published
2024
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24. Cognitive impairment in young adults following cerebellar stroke: Prevalence and longitudinal course.

Author

Reumers, Stacha F.I., Schellekens, Mijntje M.I., Lugtmeijer, Selma, Maas, Roderick P.P.W.M., Verhoeven, Jamie I., Boot, Esther M., Ekker, Merel S., Tuladhar, Anil M., van de Warrenburg, Bart P.C., Schutter, Dennis J.L.G., Kessels, Roy P.C., and de Leeuw, Frank-Erik

Subjects
COGNITION disorders, STROKE treatment, DISEASE prevalence, NEUROPSYCHOLOGICAL tests, EXECUTIVE function
Published
2024
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29. Genetic Interventions for Spinocerebellar Ataxia and Huntington’s Disease: A Qualitative Study of the Patient Perspective

Author

van Os, Nienke J.H., Oosterloo, Mayke, Essers, Brigitte A.B., Grutters, Janneke P.C., and van de Warrenburg, Bart P.C.

Abstract

Background: For various genetic disorders characterized by expanded cytosine-adenine-guanine (CAG) repeats, such as spinocerebellar ataxia (SCA) subtypes and Huntington’s disease (HD), genetic interventions are currently being tested in different clinical trial phases. The patient’s perspective on such interventions should be included in the further development and implementation of these new treatments.Objective: To obtain insight into the thoughts and perspectives of individuals with SCA and HD on genetic interventions.Methods: In this qualitative study, participants were interviewed using semi-structured interview techniques. Topics discussed were possible risks and benefits, and logistic factors such as timing, location and expertise. Data were analyzed using a generic thematic analysis. Responses were coded into superordinate themes.Results: Ten participants (five with SCA and five with HD) were interviewed. In general, participants seemed to be willing to undergo genetic interventions. Important motives were the lack of alternative disease-modifying treatment options, the hope for slowing down disease progression, and preservation of current quality of life. Before undergoing genetic interventions, participants wished to be further informed. Logistic factors such as mode and frequency of administration, expertise of the healthcare provider, and timing of treatment are of influence in the decision-making process.Conclusions: This study identified assumptions, motives, and topics that require further attention before these new therapies, if proven effective, can be implemented in clinical practice. The results may help in the design of care pathways for genetic interventions for these and other rare genetic movement disorders.

Published
2024
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31. MRI‐ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.

Author

Scaravilli, Alessandra, Negroni, Davide, Senatore, Claudio, Ugga, Lorenzo, Cosottini, Mirco, Ricca, Ivana, Bender, Benjamin, Traschütz, Andreas, Başak, Ayşe Nazli, Vural, Atay, van de Warrenburg, Bart P., Durr, Alexandra, La Piana, Roberta, Timmann, Dagmar, Akkaya, Nazan, Brais, Bernard, Aygün, Murat Serhat, De Michele, Giovanna, Donatelli, Graziella, and Dubec‐Fleury, Charlotte

Abstract

Background: Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) and hereditary spastic paraplegia type 7 (SPG7) represent the most common genotypes of spastic ataxia (SPAX). To date, their magnetic resonance imaging (MRI) features have only been described qualitatively, and a pure neuroradiological differential diagnosis between these two conditions is difficult to achieve. Objectives: To test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease). Methods: In this prospective multicenter study, 3D‐T1‐weighted images of 59 ARSACS (35.4 ± 10.3 years, M/F = 33/26) and 78 SPG7 (54.8 ± 10.3 years, M/F = 51/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9 ± 16.9 years, M/F = 15/15). Different linear and surface measures were evaluated. A receiver operating characteristic analysis was performed, calculating area under the curve (AUC) and corresponding diagnostic accuracy parameters. Results: The pons area proved to be the only metric increased exclusively in ARSACS patients (P = 0.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with P ≤ 0.005). A cut‐off value equal to 1.67 of the pons‐to‐superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7. Conclusions: Evaluation of the pons‐to‐superior vermis area ratio can discriminate ARSACS from other SPAX patients, as exemplified here by SPG7. Hence, we hereby propose this ratio as the Magnetic Resonance Index for the Assessment and Recognition of patients harboring SACS mutations (MRI‐ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI. © 2024 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Bewegingsstoornissen

Author

van de Warrenburg, Bart P. C., Richard, Edo, editor, Odekerken, Vincent J.J., editor, and de Wit, Marie-Claire Y., editor

Published
2019
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33. Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study

Author

Rezende, Thiago Junqueira Ribeiro, primary, Adanyaguh, Isaac, additional, Barsottini, Orlando G P, additional, Bender, Benjamin, additional, Cendes, Fernando, additional, Coutinho, Leo, additional, Deistung, Andreas, additional, Dogan, Imis, additional, Durr, Alexandra, additional, Fernandez-Ruiz, Juan, additional, Göricke, Sophia L, additional, Grisoli, Marina, additional, Hernandez-Castillo, Carlos R, additional, Lenglet, Christophe, additional, Mariotti, Caterina, additional, Martinez, Alberto R M, additional, Massuyama, Breno K, additional, Mochel, Fanny, additional, Nanetti, Lorenzo, additional, Nigri, Anna, additional, Ono, Sergio E, additional, Öz, Gülin, additional, Pedroso, José Luiz, additional, Reetz, Kathrin, additional, Synofzik, Matthis, additional, Teive, Helio, additional, Thomopoulos, Sophia I, additional, Thompson, Paul M, additional, Timmann, Dagmar, additional, van de Warrenburg, Bart P C, additional, van Gaalen, Judith, additional, França, Marcondes C, additional, and Harding, Ian H, additional

Published
2024
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35. The wisdom of our mentors: clinical pearls in movement disorders

Author

Araújo, Rui, primary, Fearon, Conor, additional, Balint, Bettina, additional, Bressman, Susan, additional, Friedman, Jennifer, additional, Jinnah, H A, additional, Tijssen, Marina A J, additional, Lang, Anthony, additional, Lees, Andrew, additional, Lynch, Tim, additional, Quinn, Niall, additional, Thomson, Philip, additional, Vidailhet, Marie, additional, van de Warrenburg, Bart P, additional, Fung, Victor S C, additional, and Bloem, Bastiaan R, additional

Published
2023
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42. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Author

Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., and Kamsteeg, Erik-Jan

Published
2020
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45. Stage‐dependent biomarker changes in spinocerebellar ataxia type 3

Author

Faber, Jennifer, primary, Berger, Moritz, additional, Wilke, Carlo, additional, Hubener‐Schmid, Jeannette, additional, Schaprian, Tamara, additional, Santana, Magda M, additional, Grobe‐Einsler, Marcus, additional, Onder, Demet, additional, Koyak, Berkan, additional, Giunti, Paola, additional, Garcia‐Moreno, Hector, additional, Gonzalez‐Robles, Cristina, additional, Lima, Manuela, additional, Raposo, Mafalda, additional, Melo, Ana Rosa Vieira, additional, Pereira de Almeida, Luís, additional, Silva, Patrick, additional, Pinto, Maria M, additional, van de Warrenburg, Bart P., additional, van Gaalen, Judith, additional, de Vries, Jeroen, additional, Oz, Gulin, additional, Joers, James M., additional, Synofzik, Matthis, additional, Schols, Ludger, additional, Riess, Olaf, additional, Infante, Jon, additional, Manrique, Leire, additional, Timmann, Dagmar, additional, Thieme, Andreas, additional, Jacobi, Heike, additional, Reetz, Kathrin, additional, Dogan, Imis, additional, Onyike, Chiadikaobi, additional, Povazan, Michal, additional, Schmahmann, Jeremy, additional, Ratai, Eva‐Maria, additional, Schmid, Matthias, additional, and Klockgether, Thomas, additional

Published
2023
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46. Ataxias: A Clinical Synopsis

Author

Fonteyn, Ella M. R., van de Warrenburg, Bart P. C., Falup-Pecurariu, Cristian, editor, Ferreira, Joaquim, editor, Martinez-Martin, Pablo, editor, and Chaudhuri, Kallol Ray, editor

Published
2017
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47. Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

Author

Diallo, Alhassane, Jacobi, Heike, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P, Timmann, Dagmar, Boesch, Sylvia, Pandolfo, Massimo, Schulz, Jörg B, Bauer, Peter, Giunti, Paola, Kang, Jun-Suk, Klockgether, Thomas, and Tezenas du Montcel, Sophie

Published
2018
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50. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Author

Sugier, Pierre-Emmanuel, Lucotte, Elise A., Domenighetti, Cloé, Law, Matthew H., Iles, Mark M., Brown, Kevin, Amos, Christopher, McKay, James D., Hung, Rayjean J., Karimi, Mojgan, Bacq-Daian, Delphine, Boland-Augé, Anne, Olaso, Robert, Deleuze, Jean-François, Lesueur, Fabienne, Ostroumova, Evgenia, Kesminiene, Ausrele, de Vathaire, Florent, Guénel, Pascal, consortium, The Epithyr, Sreelatha, Ashwin Ashok Kumar, Schulte, Claudia, Grover, Sandeep, May, Patrick, Bobbili, Dheeraj Reddy, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Singleton, Andrew B., Hernandez, Dena G., Edsall, Connor, Mellick, George D., Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E., Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B., Hadjigeorgiou, Georges M., Dardiotis, Efthimios, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Nakayama, Akiyoshi, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, van de Warrenburg, Bart P. C., Bloem, Bastiaan R., Aasly, Jan, Toft, Mathias, Pihlstrøm, Lasse, Guedes, Leonor Correia, Ferreira, Joaquim J., Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy, Ran, Caroline, Belin, Andrea C., Puschmann, Andreas, Rödström, Emil Ygland, Clarke, Carl E., Morrison, Karen E., Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F., Farrer, Matt J., Krüger, Rejko, Gasser, Thomas, Sharma, Manu, Landoulsi, Zied, consortium, Courage-PD, Truong, Thérèse, Elbaz, Ales, JPND Courage-PD [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], and Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center]

Subjects
Male, Lung Neoplasms, Parkinson's disease, Neurology [D14] [Human health sciences], RESEARCH ARTICLES, RESEARCH ARTICLE, SDG 3 - Good Health and Well-being, genetics [Parkinson Disease], Risk Factors, pleiotropy, Humans, cancer, ddc:610, genetics [Genetic Predisposition to Disease], Ovarian Neoplasms, Neurologie [D14] [Sciences de la santé humaine], Prostatic Neoplasms, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], genetic correlation, parkinson's disease, polygenic risk score, epidemiology [Melanoma], Neurology, genetics [Melanoma], genetics [Polymorphism, Single Nucleotide], Female, epidemiology [Parkinson Disease], Genetics & genetic processes [F10] [Life sciences], Neurology (clinical), Génétique & processus génétiques [F10] [Sciences du vivant], Genome-Wide Association Study
Abstract

BackgroundEpidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties.ObjectiveWe used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors.MethodsWe used individual data for participants of European ancestry from the Courage-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta-Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross-phenotypes polygenic risk score (PRS) analyses.ResultsWe confirmed a previously reported positive genetic correlation of PD with melanoma (Gcorr = 0.16 [0.04; 0.28]) and reported an additional significant positive correlation of PD with prostate cancer (Gcorr = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10]) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly driven by rs183211 located in an intron of the NSF gene (17q21.31).ConclusionsWe show evidence in favor of a contribution of pleiotropic genes to the association between PD and specific cancers. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

Published
2023

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