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1. 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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2. 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

3. Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Author

Traschütz, Andreas, primary, Adarmes‐Gomez, Astrid D., additional, Anheim, Mathieu, additional, Baets, Jonathan, additional, Falkenburger, Björn H., additional, Gburek‐Augustat, Janina, additional, Doss, Sarah, additional, Kamm, Christoph, additional, Klivenyi, Peter, additional, Grobe‐Einsler, Marcus, additional, Klopstock, Thomas, additional, Minnerop, Martina, additional, Münchau, Alexander, additional, Pane, Chiara, additional, Renaud, Mathilde, additional, Santorelli, Filippo M., additional, Schöls, Ludger, additional, Timmann, Dagmar, additional, Vielhaber, Stefan, additional, Haack, Tobias B., additional, van de Warrenburg, Bart P., additional, Zanni, Ginevra, additional, and Synofzik, Matthis, additional

Published
2023
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5. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

Author

Wortmann, Saskia B., primary, Oud, Machteld M., additional, Alders, Mariëlle, additional, Coene, Karlien L. M., additional, van der Crabben, Saskia N., additional, Feichtinger, René G., additional, Garanto, Alejandro, additional, Hoischen, Alex, additional, Langeveld, Mirjam, additional, Lefeber, Dirk, additional, Mayr, Johannes A., additional, Ockeloen, Charlotte W., additional, Prokisch, Holger, additional, Rodenburg, Richard, additional, Waterham, Hans R., additional, Wevers, Ron A., additional, van de Warrenburg, Bart P. C., additional, Willemsen, Michel A. A. P., additional, Wolf, Nicole I., additional, Vissers, Lisenka E. L. M., additional, and van Karnebeek, Clara D. M., additional

Published
2022
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6. Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study

Author

Domenighetti, Cloé, Sugier, Pierre-Emmanuel, Lichtner, Peter, Singleton, Andrew B, Hernandez, Dena Michelle Godwin, Edsall, Connor, Mellick, George D, Zimprich, Alexander, Pirker, Walter, Rogaeva, Ekaterina, Lang, Anthony E, Koks, Sulev, Ashok Kumar Sreelatha, Ashwin, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugénie, Brockmann, Kathrin, Deutschländer, Angela B, Hadjigeorgiou, Georges M, Dardiotis, Efthimos, Schulte, Claudia, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Duga, Stefano, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Grover, Sandeep, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Matsuo, Hirotaka, Kawamura, Yusuke, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Kolber, Pierre, Mohamed, Océane, van de Warrenburg, Bart P C, Bloem, Bastiaan R, Aasly, Jan, Toft, Mathias, Pihlstrøm, Lasse, Correia Guedes, Leonor, Ferreira, Joaquim J, Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Portugal, Berta, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy L, Ran, Caroline, Belin, Andrea C, Puschmann, Andreas, Hellberg, Clara, Clarke, Carl E, May, Patrick, Morrison, Karen E, Tan, Manuela, Krainc, Dimitri, Burbulla, Lena F, Farrer, Matt J, Krüger, Rejko, Gasser, Thomas, Sharma, Manu, Elbaz, Alexis, Genetics, and the Comprehensive Unbiased Risk Factor Assessment for, Bobbili, Dheeraj R, Disease, Environment in Parkinson's, Radivojkov-Blagojevic, Milena, and Repositório da Universidade de Lisboa

Subjects
Male, dairy intake, Parkinson's disease, Mendelian randomization, Parkinson Disease, Dairy intake, Mendelian Randomization Analysis, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Polymorphism, Single Nucleotide, Neurology, genetics [Parkinson Disease], Risk Factors, adverse effects [Dairy Products], genetics [Polymorphism, Single Nucleotide], Humans, Genetic Predisposition to Disease, Female, Dairy Products, Neurology (clinical), ddc:610, epidemiology [Parkinson Disease], genetics [Genetic Predisposition to Disease], Genome-Wide Association Study
Abstract

© 2022 International Parkinson and Movement Disorder Society, Background: Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association is causal or explained by reverse causation or confounding. Objective: The aim is to examine the association between genetically predicted dairy intake and PD using two-sample Mendelian randomization (MR). Methods: We genotyped a well-established instrumental variable for dairy intake located in the lactase gene (rs4988235) within the Courage-PD consortium (23 studies; 9823 patients and 8376 controls of European ancestry). Results: Based on a dominant model, there was an association between genetic predisposition toward higher dairy intake and PD (odds ratio [OR] per one serving per day = 1.70, 95% confidence interval = 1.12-2.60, P = 0.013) that was restricted to men (OR = 2.50 [1.37-4.56], P = 0.003; P-difference with women = 0.029). Conclusions: Using MR, our findings provide further support for a causal relationship between dairy intake and higher PD risk, not biased by confounding or reverse causation. Further studies are needed to elucidate the underlying mechanisms. © 2022 International Parkinson and Movement Disorder Society., This study used data from the Courage-PD consortium, conducted under a partnership agreement among 35 studies. The Courage-PD consortium is supported by the EU Joint Program for Neurodegenerative Disease research (JPND; https://www.neurodegenerationresearch.eu/initiatives/annual-calls-for-proposals/closed-calls/risk-factors-2012/risk-factor-call-results/courage-pd/). C.D. is the recipient of a doctoral grant from Université Paris-Saclay, France. P.M. was funded by the Fonds National de Recherche (FNR), Luxembourg, as part of the National Centre of Excellence in Research on Parkinson's Disease (NCER-PD, FNR11264123) and the DFG Research Units FOR2715 (INTER/DFG/17/11583046) and FOR2488 (INTER/DFG/19/14429377). A.B.S., D.G.H., and C.E. are funded by the Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services, project ZO1 AG000949. E.R. is funded by the Canadian Consortium on Neurodegeneration in Aging. S.K. is funded by MSWA. P.T. is the recipient of an Estonian Research Council Grant PRG957. E.M.V. is funded by the Italian Ministry of Health (Ricerca Corrente 2021). S.B. and J.C. are supported by grants from the National Research Foundation of South Africa (grant number: 106052); the South African Medical Research Council (Self-Initiated Research Grant); and Stellenbosch University, South Africa; they also acknowledge the support of the NRF-DST Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; and Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town. P.P. and M.D.-F. have received funding from the Spanish Ministry of Science and Innovation (SAF2013-47939-R). K.W. and N.L.P. are funded by the Swedish Research Council, grant numbers K2002-27X-14056-02B, 521-2010-2479, 521-2013-2488, and 2017-02175. N.L.P. is funded by the National Institutes of Health, grant numbers ES10758 and AG 08724. C.R. is funded by the Märta Lundkvist Foundation, Swedish Brain Foundation, and Karolinska Institutet Research Fund. A.C.B. is funded by the Swedish Brain Foundation, Swedish Research Council, and Karolinska Institutet Research Funds. M.T. (M. Tan) is funded by the Parkinson's UK. M.S. was supported by grants from the German Research Council (DFG/SH 599/6-1), MSA Coalition, and The Michael J. Fox Foundation (USA Genetic Diversity in PD Program: GAP-India Grant ID: 17473). PG GEN sample collection was funded by the MRC and UK Medical Research Council (C.E.C. and K.E.M.).

Published
2022

7. Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity

Author

Hengel, Holger, primary, Martus, Peter, additional, Faber, Jennifer, additional, Garcia‐Moreno, Hector, additional, Solanky, Nita, additional, Giunti, Paola, additional, Klockgether, Thomas, additional, Reetz, Kathrin, additional, van de Warrenburg, Bart P., additional, Pereira de Almeida, Luís, additional, Santana, Magda M., additional, Januário, Cristina, additional, Silva, Patrick, additional, Thieme, Andreas, additional, Infante, Jon, additional, de Vries, Jeroen, additional, Lima, Manuela, additional, Ferreira, Ana F., additional, Bushara, Khalaf, additional, Jacobi, Heike, additional, Onyike, Chiadi, additional, Schmahmann, Jeremy D., additional, Hübener‐Schmid, Jeannette, additional, Synofzik, Matthis, additional, and Schöls, Ludger, additional

Published
2021
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8. Natural History of Polymerase Gamma–Related Ataxia

Author

Bender, Friedemann, primary, Timmann, Dagmar, additional, van de Warrenburg, Bart P., additional, Adarmes‐Gómez, Astrid D., additional, Bender, Benjamin, additional, Thieme, Andreas, additional, Synofzik, Matthis, additional, and Schöls, Ludger, additional

Published
2021
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9. Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts

Author

Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton L, Kim, Jonggeol J, Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, van Nimwegen, Marlies, Hutten, Samantha J, Nguyen, Khanh-Dung H, Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten M, Wijeyekoon, Ruwani, Van Deerlin, Vivianna M, Hernandez, Dena G, Gibbs, J Raphael, International Parkinson's Disease Genomics Consortium, Chitrala, Kumaraswamy Naidu, Day-Williams, Aaron G, Brice, Alexis, Alves, Guido, Noyce, Alastair J, Tysnes, Ole-Bjørn, Evans, Jonathan R, Breen, David P, Estrada, Karol, Wegel, Claire E, Danjou, Fabrice, Simon, David K, Andreassen, Ole, Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan R, Weintraub, Daniel, Barker, Roger A, Williams-Gray, Caroline H, van de Warrenburg, Bart P, Van Hilten, Jacobus J, Scherzer, Clemens R, Singleton, Andrew B, Nalls, Mike A, Barker, Roger [0000-0001-8843-7730], Williams-Gray, Caroline [0000-0002-2648-9743], and Apollo - University of Cambridge Repository

Subjects
Adult, Aged, 80 and over, Male, Organic Cation Transport Proteins, Parkinson's disease, Parkinson Disease, Middle Aged, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Risk Assessment, Cohort Studies, Cross-Sectional Studies, Phenotype, Antigens, CD, Disease Progression, Glucosylceramidase, Humans, GBA, Cognitive Dysfunction, Female, Apolipoprotein E, Longitudinal Studies, genomewide association study, Biomarkers, Aged, Genome-Wide Association Study
Abstract

BACKGROUND: Several reports have identified different patterns of Parkinson's disease progression in individuals carrying missense variants in GBA or LRRK2 genes. The overall contribution of genetic factors to the severity and progression of Parkinson's disease, however, has not been well studied. OBJECTIVES: To test the association between genetic variants and the clinical features of Parkinson's disease on a genomewide scale. METHODS: We accumulated individual data from 12 longitudinal cohorts in a total of 4093 patients with 22,307 observations for a median of 3.81 years. Genomewide associations were evaluated for 25 cross-sectional and longitudinal phenotypes. Specific variants of interest, including 90 recently identified disease-risk variants, were also investigated post hoc for candidate associations with these phenotypes. RESULTS: Two variants were genomewide significant. Rs382940(T>A), within the intron of SLC44A1, was associated with reaching Hoehn and Yahr stage 3 or higher faster (hazard ratio 2.04 [1.58-2.62]; P value = 3.46E-8). Rs61863020(G>A), an intergenic variant and expression quantitative trait loci for α-2A adrenergic receptor, was associated with a lower prevalence of insomnia at baseline (odds ratio 0.63 [0.52-0.75]; P value = 4.74E-8). In the targeted analysis, we found 9 associations between known Parkinson's risk variants and more severe motor/cognitive symptoms. Also, we replicated previous reports of GBA coding variants (rs2230288: p.E365K; rs75548401: p.T408M) being associated with greater motor and cognitive decline over time, and an APOE E4 tagging variant (rs429358) being associated with greater cognitive deficits in patients. CONCLUSIONS: We identified novel genetic factors associated with heterogeneity of Parkinson's disease. The results can be used for validation or hypothesis tests regarding Parkinson's disease. © 2019 International Parkinson and Movement Disorder Society.

Published
2019

10. Differences in the Presentation and Progression of Parkinson's Disease by Sex

Author

Iwaki, Hirotaka, primary, Blauwendraat, Cornelis, additional, Leonard, Hampton L., additional, Makarious, Mary B., additional, Kim, Jonggeol J., additional, Liu, Ganqiang, additional, Maple‐Grødem, Jodi, additional, Corvol, Jean‐Christophe, additional, Pihlstrøm, Lasse, additional, van Nimwegen, Marlies, additional, Smolensky, Luba, additional, Amondikar, Ninad, additional, Hutten, Samantha J., additional, Frasier, Mark, additional, Nguyen, Khanh‐Dung H., additional, Rick, Jacqueline, additional, Eberly, Shirley, additional, Faghri, Faraz, additional, Auinger, Peggy, additional, Scott, Kirsten M., additional, Wijeyekoon, Ruwani, additional, Van Deerlin, Vivianna M., additional, Hernandez, Dena G., additional, Gibbs, Raphael J., additional, Day‐Williams, Aaron G., additional, Brice, Alexis, additional, Alves, Guido, additional, Noyce, Alastair J., additional, Tysnes, Ole‐Bjørn, additional, Evans, Jonathan R., additional, Breen, David P., additional, Estrada, Karol, additional, Wegel, Claire E., additional, Danjou, Fabrice, additional, Simon, David K., additional, Andreassen, Ole A., additional, Ravina, Bernard, additional, Toft, Mathias, additional, Heutink, Peter, additional, Bloem, Bastiaan R., additional, Weintraub, Daniel, additional, Barker, Roger A., additional, Williams‐Gray, Caroline H., additional, van de Warrenburg, Bart P., additional, Van Hilten, Jacobus J., additional, Scherzer, Clemens R., additional, Singleton, Andrew B., additional, and Nalls, Mike A., additional

Published
2020
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11. Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia

Author

Schon, Katherine, Van Os, Nienke JH, Oscroft, Nicholas, Baxendale, Helen, Scoffings, Daniel, Ray, Julian, Suri, Mohnish, Whitehouse, William P, Mehta, Puja R, Everett, Natasha, Bottolo, Leonardo, Van De Warrenburg, Bart P, Byrd, Philip J, Weemaes, Corry, Willemsen, Michel A, Tischkowitz, Marc, Taylor, A Malcolm, Hensiek, Anke E, Schon, Katherine [0000-0001-8054-8954], Bottolo, Leonardo [0000-0002-6381-2327], Tischkowitz, Marc [0000-0002-7880-0628], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Adolescent, Genotype, Mutation, Missense, Middle Aged, Severity of Illness Index, Cohort Studies, Ataxia Telangiectasia, Young Adult, Cross-Sectional Studies, Basal Ganglia Diseases, Humans, Female, Child, Retrospective Studies
Abstract

OBJECTIVE: Variant ataxia-telangiectasia is caused by mutations that allow some retained ataxia telangiectasia-mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia-telangiectasia and explore genotype-phenotype correlations. METHODS: Cross-sectional data were collected retrospectively. Patients were classified as variant ataxia-telangiectasia based on retained ATM kinase activity. RESULTS: The study includes 57 individuals. Mean age at assessment was 37.5 years. Most had their first symptoms by age 10 (81%). There was a diagnostic delay of more than 10 years in 68% and more than 20 years in one third of probands. Disease severity was mild in one third of patients, and 43% were still ambulant 20 years after disease onset. Only one third had predominant ataxia, and 18% had a pure extrapyramidal presentation. Individuals with extrapyramidal presentations had milder neurological disease severity. There were no significant respiratory or immunological complications, but 25% of individuals had a history of malignancy. Missense mutations were associated with milder neurological disease severity, but with a higher risk of malignancy, compared to leaky splice site mutations. INTERPRETATION: Individuals with variant ataxia-telangiectasia require malignancy surveillance and tailored management. However, our data suggest the condition may sometimes be mis- or underdiagnosed because of atypical features, including exclusive extrapyramidal symptoms, normal eye movements, and normal alpha-fetoprotein levels in some individuals. Missense mutations are associated with milder neurological presentations, but a particularly high malignancy risk, and it is important for clinicians to be aware of these phenotypes. ANN NEUROL 2019;85:170-180.

Published
2019
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12. Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia

Author

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

Published
2019
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13. Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

Author

Schon, Katherine, primary, van Os, Nienke J.H., additional, Oscroft, Nicholas, additional, Baxendale, Helen, additional, Scoffings, Daniel, additional, Ray, Julian, additional, Suri, Mohnish, additional, Whitehouse, William P., additional, Mehta, Puja R., additional, Everett, Natasha, additional, Bottolo, Leonardo, additional, van de Warrenburg, Bart P., additional, Byrd, Philip J., additional, Weemaes, Corry, additional, Willemsen, Michel A., additional, Tischkowitz, Marc, additional, Taylor, A. Malcolm, additional, and Hensiek, Anke E., additional

Published
2019
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14. Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Author

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

Published
2017
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15. Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force

Author

Marras, Connie, primary, Lang, Anthony, additional, van de Warrenburg, Bart P., additional, Sue, Carolyn M., additional, Tabrizi, Sarah J., additional, Bertram, Lars, additional, Mercimek-Mahmutoglu, Saadet, additional, Ebrahimi-Fakhari, Darius, additional, Warner, Thomas T., additional, Durr, Alexandra, additional, Assmann, Birgit, additional, Lohmann, Katja, additional, Kostic, Vladimir, additional, and Klein, Christine, additional

Published
2017
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16. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Author

Marras, Connie, primary, Lang, Anthony, additional, van de Warrenburg, Bart P., additional, Sue, Carolyn M., additional, Tabrizi, Sarah J., additional, Bertram, Lars, additional, Mercimek-Mahmutoglu, Saadet, additional, Ebrahimi-Fakhari, Darius, additional, Warner, Thomas T., additional, Durr, Alexandra, additional, Assmann, Birgit, additional, Lohmann, Katja, additional, Kostic, Vladimir, additional, and Klein, Christine, additional

Published
2016
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17. Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

Author

Paap, Brigitte K., primary, Roeske, Sandra, additional, Durr, Alexandra, additional, Schöls, Ludger, additional, Ashizawa, Tetsuo, additional, Boesch, Sylvia, additional, Bunn, Lisa M., additional, Delatycki, Martin B., additional, Giunti, Paola, additional, Lehéricy, Stéphane, additional, Mariotti, Caterina, additional, Melegh, Jörg, additional, Pandolfo, Massimo, additional, Tallaksen, Chantal M.E., additional, Timmann, Dagmar, additional, Tsuji, Shoji, additional, Schulz, Jörg Bela, additional, van de Warrenburg, Bart P., additional, and Klockgether, Thomas, additional

Published
2016
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23. Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

Author

Duarri, Anna, primary, Jezierska, Justyna, additional, Fokkens, Michiel, additional, Meijer, Michel, additional, Schelhaas, Helenius J., additional, den Dunnen, Wilfred F. A., additional, van Dijk, Freerk, additional, Verschuuren-Bemelmans, Corien, additional, Hageman, Gerard, additional, van de Vlies, Pieter, additional, Küsters, Benno, additional, van de Warrenburg, Bart P., additional, Kremer, Berry, additional, Wijmenga, Cisca, additional, Sinke, Richard J., additional, Swertz, Morris A., additional, Kampinga, Harm H., additional, Boddeke, Erik, additional, and Verbeek, Dineke S., additional

Published
2012
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28. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Author

van Es, Michael A., primary, Schelhaas, Helenius J., additional, van Vught, Paul W. J., additional, Ticozzi, Nicola, additional, Andersen, Peter M., additional, Groen, Ewout J. N., additional, Schulte, Claudia, additional, Blauw, Hylke M., additional, Koppers, Max, additional, Diekstra, Frank P., additional, Fumoto, Katsumi, additional, LeClerc, Ashley Lyn, additional, Keagle, Pamela, additional, Bloem, Bastiaan R., additional, Scheffer, Hans, additional, van Nuenen, Bart F. L., additional, van Blitterswijk, Marka, additional, van Rheenen, Wouter, additional, Wills, Anne‐Marie, additional, Lowe, Patrick P., additional, Hu, Guo‐fu, additional, Yu, Wenhao, additional, Kishikawa, Hiroko, additional, Wu, David, additional, Folkerth, Rebecca D., additional, Mariani, Claudio, additional, Goldwurm, Stefano, additional, Pezzoli, Gianni, additional, Van Damme, Philip, additional, Lemmens, Robin, additional, Dahlberg, Caroline, additional, Birve, Anna, additional, Fernández‐Santiago, Rubén, additional, Waibel, Stefan, additional, Klein, Christine, additional, Weber, Markus, additional, van der Kooi, Anneke J., additional, de Visser, Marianne, additional, Verbaan, Dagmar, additional, van Hilten, Jacobus J., additional, Heutink, Peter, additional, Hennekam, Eric A. M., additional, Cuppen, Edwin, additional, Berg, Daniela, additional, Brown, Robert H., additional, Silani, Vincenzo, additional, Gasser, Thomas, additional, Ludolph, Albert C., additional, Robberecht, Wim, additional, Ophoff, Roel A., additional, Veldink, Jan H., additional, Pasterkamp, R. Jeroen, additional, de Bakker, Paul I. W., additional, Landers, John E., additional, van de Warrenburg, Bart P., additional, and van den Berg, Leonard H., additional

Published
2011
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30. DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation

Author

Groen, Justus L., primary, Ritz, Katja, additional, Contarino, Maria Fiorella, additional, van de Warrenburg, Bart P., additional, Aramideh, Majid, additional, Foncke, Elisabeth M., additional, van Hilten, Jacobus J., additional, Schuurman, P. Richard, additional, Speelman, Johannes D., additional, Koelman, Johannes H., additional, de Bie, Rob M.A., additional, Baas, Frank, additional, and Tijssen, Marina A., additional

Published
2010
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33. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6

Author

Globas, Christoph, primary, du Montcel, Sophie Tezenas, additional, Baliko, Laslo, additional, Boesch, Syliva, additional, Depondt, Chantal, additional, DiDonato, Stefano, additional, Durr, Alexandra, additional, Filla, Alessandro, additional, Klockgether, Thomas, additional, Mariotti, Caterina, additional, Melegh, Bela, additional, Rakowicz, Maryla, additional, Ribai, Pascale, additional, Rola, Rafal, additional, Schmitz‐Hubsch, Tanja, additional, Szymanski, Sandra, additional, Timmann, Dagmar, additional, Van de Warrenburg, Bart P., additional, Bauer, Peter, additional, and Schols, Ludger, additional

Published
2008
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38. Differences in the Presentation and Progression of Parkinson's Disease by Sex

Author

Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton L, Makarious, Mary B, Kim, Jonggeol J, Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, Van Nimwegen, Marlies, Smolensky, Luba, Amondikar, Ninad, Hutten, Samantha J, Frasier, Mark, Nguyen, Khanh-Dung H, Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten M, Wijeyekoon, Ruwani, Van Deerlin, Vivianna M, Hernandez, Dena G, Gibbs, Raphael J, Day-Williams, Aaron G, Brice, Alexis, Alves, Guido, Noyce, Alastair J, Tysnes, Ole-Bjørn, Evans, Jonathan R, Breen, David P, Estrada, Karol, Wegel, Claire E, Danjou, Fabrice, Simon, David K, Andreassen, Ole A, Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan R, Weintraub, Daniel, Barker, Roger A, Williams-Gray, Caroline H, Van De Warrenburg, Bart P, Van Hilten, Jacobus J, Scherzer, Clemens R, Singleton, Andrew B, and Nalls, Mike A

Subjects
Cohort Studies, Male, Parkinson's disease, gender, sex, dyskinesias, cognitive impairment, activities of daily livings, Activities of Daily Living, Disease Progression, Humans, Cognitive Dysfunction, Female, Parkinson Disease, 3. Good health
Abstract

BACKGROUND: Previous studies reported various symptoms of Parkinson's disease (PD) associated with sex. Some were conflicting or confirmed in only one study. OBJECTIVES: We examined sex associations to PD phenotypes cross-sectionally and longitudinally in large-scale data. METHODS: We tested 40 clinical phenotypes, using longitudinal, clinic-based patient cohorts, consisting of 5946 patients, with a median follow-up of 3.1 years. For continuous outcomes, we used linear regressions at baseline to test sex-associated differences in presentation, and linear mixed-effects models to test sex-associated differences in progression. For binomial outcomes, we used logistic regression models at baseline and Cox regression models for survival analyses. We adjusted for age, disease duration, and medication use. In the secondary analyses, data from 17 719 PD patients and 7588 non-PD participants from an online-only, self-assessment PD cohort were cross-sectionally evaluated to determine whether the sex-associated differences identified in the primary analyses were consistent and unique to PD. RESULTS: Female PD patients had a higher risk of developing dyskinesia early during the follow-up period, with a slower progression in activities of daily living difficulties, and a lower risk of developing cognitive impairments compared with male patients. The findings in the longitudinal, clinic-based cohorts were mostly consistent with the results of the online-only cohort. CONCLUSIONS: We observed sex-associated contributions to PD heterogeneity. These results highlight the necessity of future research to determine the underlying mechanisms and importance of personalized clinical management. © 2020 International Parkinson and Movement Disorder Society.

39. The Symptomatic Treatment of Acquired Dystonia: A Systematic Review.

Author

van den Heuvel CNAM, Tijssen MAJ, van de Warrenburg BPC, and Delnooz CCS

Abstract

Background: Acquired dystonia is caused by an acquired or exogenous event. Although the therapeutic armamentarium used in clinical practice is more or less similar to that used for inherited or idiopathic dystonia, formal proof of the efficacy of these interventions in acquired dystonia is lacking., Methods: The authors attempt to provide a comprehensive and systematic review of the current evidence for medical and allied health care treatment strategies in acquired dystonias. The PubMed, Cochrane Library, MEDLINE, Web of Science, PiCarta, and PsycINFO databases were searched up to December 2015, including randomized controlled trials, patient-control studies, and case series or single case reports containing a report on clinical outcome., Results: There are level 3 practice recommendations for botulinum toxin injections and globus pallidus pars interna deep brain stimulation for tardive dystonia and dystonic cerebral palsy as well as intrathecal baclofen for dystonic cerebral palsy. There are insufficient and conflicting data on the effect (vs. the hazard) of other pharmacological interventions, and limited work has been done on other forms of neurostimulation and allied health care. Because no class A1 or A2 studies were identified, level 1 or 2 practice recommendations could not be deducted for a specific treatment intervention., Conclusions: To improve the current medical and allied health care treatment options for patients with acquired dystonia, high-quality trials that examine the efficacy of therapies need to be performed.

Published
2016
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40. Writer's cramp: increased dorsal premotor activity during intended writing.

Author

Delnooz CC, Helmich RC, Medendorp WP, Van de Warrenburg BP, and Toni I

Subjects
Adult, Biomechanical Phenomena, Brain Mapping, Case-Control Studies, Electromyography, Female, Functional Laterality, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged, Motor Cortex blood supply, Movement, Muscle Strength physiology, Oxygen blood, Time Factors, Dystonic Disorders pathology, Dystonic Disorders rehabilitation, Motor Cortex physiopathology, Psychomotor Performance physiology, Writing
Abstract

Simple writer's cramp (WC) is a task-specific form of dystonia, characterized by abnormal movements and postures of the hand during writing. It is extremely task-specific, since dystonic symptoms can occur when a patient uses a pencil for writing, but not when it is used for sharpening. Maladaptive plasticity, loss of inhibition, and abnormal sensory processing are important pathophysiological elements of WC. However, it remains unclear how those elements can account for its task-specificity. We used fMRI to isolate cerebral alterations associated with the task-specificity of simple WC. Subjects (13 simple WC patients, 20 matched controls) imagined grasping a pencil to either write with it or sharpen it. On each trial, we manipulated the pencil's position and the number of imagined movements, while monitoring variations in motor output with electromyography. We show that simple WC is characterized by abnormally increased activity in the dorsal premotor cortex (PMd) when imagined actions are specifically related to writing. This cerebral effect was independent from the known deficits in dystonia in generating focal motor output and in processing somatosensory feedback. This abnormal activity of the PMd suggests that the task-specific element of simple WC is primarily due to alterations at the planning level, in the computations that transform a desired action outcome into the motor commands leading to that action. These findings open the way for testing the therapeutic value of interventions that take into account the computational substrate of task-specificity in simple WC, e.g. modulations of PMd activity during the planning phase of writing., (Copyright © 2011 Wiley Periodicals, Inc.)

Published
2013
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