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1. Performance evaluation of automated white matter hyperintensity segmentation algorithms in a multicenter cohort on cognitive impairment and dementia

Author

Malo Gaubert, Andrea Dell’Orco, Catharina Lange, Antoine Garnier-Crussard, Isabella Zimmermann, Martin Dyrba, Marco Duering, Gabriel Ziegler, Oliver Peters, Lukas Preis, Josef Priller, Eike Jakob Spruth, Anja Schneider, Klaus Fliessbach, Jens Wiltfang, Björn H. Schott, Franziska Maier, Wenzel Glanz, Katharina Buerger, Daniel Janowitz, Robert Perneczky, Boris-Stephan Rauchmann, Stefan Teipel, Ingo Kilimann, Christoph Laske, Matthias H. Munk, Annika Spottke, Nina Roy, Laura Dobisch, Michael Ewers, Peter Dechent, John Dylan Haynes, Klaus Scheffler, Emrah Düzel, Frank Jessen, Miranka Wirth, for the DELCODE study group, Amthauer Holger, Cetindag Arda Can, Cosma Nicoleta Carmen, Diesing Dominik, Ehrlich Marie, Fenski Frederike, Freiesleben Silka Dawn, Fuentes Manuel, Hauser Dietmar, Hujer Nicole, Incesoy Enise Irem, Kainz Christian, Lange Catharina, Lindner Katja, Megges Herlind, Peters Oliver, Preis Lukas, Altenstein Slawek, Lohse Andrea, Franke Christiana, Priller Josef, Spruth Eike, Villar Munoz Irene, Barkhoff Miriam, Boecker Henning, Brosseron Frederic, Daamen Marcel, Engels Tanja, Faber Jennifer, Fließbach Klaus, Frommann Ingo, Grobe-Einsler Marcus, Hennes Guido, Herrmann Gabi, Jost Lorraine, Kalbhen Pascal, Kimmich Okka, Kobeleva Xenia, Kofler Barbara, McCormick Cornelia, Miebach Lisa, Miklitz Carolin, Müller Anna, Oender Demet, Polcher Alexandra, Purrer Veronika, Röske Sandra, Schneider Christine, Schneider Anja, Spottke Annika, Vogt Ina, Wagner Michael, wolfsgruber Steffen, Yilmaz Sagik, Bartels Claudia, Dechent Peter, Hansen Niels, Hassoun Lina, Hirschel Sina, Nuhn Sabine, Pfahlert Ilona, Rausch Lena, Schott Björn, Timäus Charles, Werner Christine, Wiltfang Jens, Zabel Lioba, Zech Heike, Bader Abdelmajid, Baldermann Juan Carlos, Dölle Britta, Drzezga Alexander, Escher Claus, Ghiasi Nasim Roshan, Hardenacke Katja, Jessen Frank, Lützerath Hannah, Maier Franziska, Marquardt Benjamin, Martikke Anja, Meiberth Dix, Petzler Snjezana, Rostamzadeh Ayda, Sannemann Lena, Schild Ann-Katrin, Sorgalla Susanne, Stockter Simone, Thelen Manuela, Tscheuschler Maike, Uhle Franziska, Zeyen Philip, Bittner Daniel, Cardenas-Blanco Arturo, Dobisch Laura, Düzel Emrah, Grieger-Klose Doreen, Hartmann Deike, Metzger Coraline, Nestor Peter, Ruß Christin, Schulze Franziska, Speck Oliver, Yakupov Renat, Ziegler Gabriel, Brauneis Christine, Bürger Katharina, Catak Cihan, Coloma Andrews Lisa, Dichgans Martin, Dörr Angelika, Ertl-Wagner Birgit, Frimmer Daniela, Huber Brigitte, Janowitz Daniel, Kreuzer Max, Markov Eva, Müller Claudia, Rominger Axel, Schmid (ehemals Spreider) Jennifer, Seegerer Anna, Stephan Julia, Zollver Adelgunde, Burow Lena, de Jonge Sylvia, Falkai Peter, Garcia Angarita Natalie, Görlitz Thomas, Gürsel Selim Üstün, Horvath Ildiko, Kurz Carolin, Meisenzahl-Lechner Eva, Perneczky Robert, Utecht Julia, Dyrba Martin, Janecek-Meyer Heike, Kilimann Ingo, Lappe Chris, Lau Esther, Pfaff Henrike, Raum Heike, Sabik Petr, Schmidt Monika, Schulz Heike, Schwarzenboeck Sarah, Teipel Stefan, Weber Marc-Andre, Buchmann Martina, Heger Tanja, Hinderer Petra, Kuder-Buletta Elke, Laske Christoph, Munk Matthias, Mychajliw Christian, Soekadar Surjo, sulzer Patricia, and Trunk Theresia

Subjects
white matter hyperintensities segmentation, evaluation, FLAIR, deep learning, aging, Alzheimer’s disease, Psychiatry, RC435-571
Abstract

BackgroundWhite matter hyperintensities (WMH), a biomarker of small vessel disease, are often found in Alzheimer’s disease (AD) and their advanced detection and quantification can be beneficial for research and clinical applications. To investigate WMH in large-scale multicenter studies on cognitive impairment and AD, appropriate automated WMH segmentation algorithms are required. This study aimed to compare the performance of segmentation tools and provide information on their application in multicenter research.MethodsWe used a pseudo-randomly selected dataset (n = 50) from the DZNE-multicenter observational Longitudinal Cognitive Impairment and Dementia Study (DELCODE) that included 3D fluid-attenuated inversion recovery (FLAIR) images from participants across the cognitive continuum. Performances of top-rated algorithms for automated WMH segmentation [Brain Intensity Abnormality Classification Algorithm (BIANCA), lesion segmentation toolbox (LST), lesion growth algorithm (LGA), LST lesion prediction algorithm (LPA), pgs, and sysu_media] were compared to manual reference segmentation (RS).ResultsAcross tools, segmentation performance was moderate for global WMH volume and number of detected lesions. After retraining on a DELCODE subset, the deep learning algorithm sysu_media showed the highest performances with an average Dice’s coefficient of 0.702 (±0.109 SD) for volume and a mean F1-score of 0.642 (±0.109 SD) for the number of lesions. The intra-class correlation was excellent for all algorithms (>0.9) but BIANCA (0.835). Performance improved with high WMH burden and varied across brain regions.ConclusionTo conclude, the deep learning algorithm, when retrained, performed well in the multicenter context. Nevertheless, the performance was close to traditional methods. We provide methodological recommendations for future studies using automated WMH segmentation to quantify and assess WMH along the continuum of cognitive impairment and AD dementia.

Published
2023
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2. SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.

Author

Uebachs, Mischa, Wegner, Philipp, Schaaf, Sebastian, Kugai, Simon, Jacobi, Heike, Kuo, Sheng-Han, Ashizawa, Tetsuo, Fluck, Juliane, Klockgether, Thomas, and Faber, Jennifer

Subjects
Observational studies, Spinocerebellar ataxia (SCA), Visualization, Humans, Spinocerebellar Ataxias, Cohort Studies, Software
Abstract

With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a graphical handling and filtering to select and define subgroups and their comparison. Several plot types to visualize all data points resulting from the selected attributes are provided. The underlying synthetic cohort is based on clinical data from five different European and US longitudinal multicenter cohorts in spinocerebellar ataxia type 1, 2, 3, and 6 (SCA1, 2, 3, and 6) comprising > 1400 patients with overall > 5500 visits. First, we developed a common data model to integrate the clinical, demographic, and characterizing data of each source cohort. Second, the available datasets from each cohort were mapped onto the data model. Third, we created a synthetic cohort based on the cleaned dataset. With SCAview, we demonstrate the feasibility of mapping cohort data from different sources onto a common data model. The resulting browser-based visualization tool with a thoroughly graphical handling of the data offers researchers the unique possibility to visualize relationships and distributions of clinical data, to define subgroups and to further investigate them without any technical effort. Access to SCAview can be requested via the Ataxia Global Initiative and is free of charge.

Published
2024

3. 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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8. A Generic Framework for Hidden Markov Models on Biomedical Data

Author

Fechner, Richard, Dörpinghaus, Jens, Rockenfeller, Robert, and Faber, Jennifer

Subjects
Computer Science - Databases, Quantitative Biology - Quantitative Methods
Abstract

Background: Biomedical data are usually collections of longitudinal data assessed at certain points in time. Clinical observations assess the presences and severity of symptoms, which are the basis for description and modeling of disease progression. Deciphering potential underlying unknowns solely from the distinct observation would substantially improve the understanding of pathological cascades. Hidden Markov Models (HMMs) have been successfully applied to the processing of possibly noisy continuous signals. The aim was to improve the application HMMs to multivariate time-series of categorically distributed data. Here, we used HHMs to study prediction of the loss of free walking ability as one major clinical deterioration in the most common autosomal dominantly inherited ataxia disorder worldwide. We used HHMs to investigate the prediction of loss of the ability to walk freely, representing a major clinical deterioration in the most common autosomal-dominant inherited ataxia disorder worldwide. Results: We present a prediction pipeline which processes data paired with a configuration file, enabling to construct, validate and query a fully parameterized HMM-based model. In particular, we provide a theoretical and practical framework for multivariate time-series inference based on HMMs that includes constructing multiple HMMs, each to predict a particular observable variable. Our analysis is done on random data, but also on biomedical data based on Spinocerebellar ataxia type 3 disease. Conclusions: HHMs are a promising approach to study biomedical data that naturally are represented as multivariate time-series. Our implementation of a HHMs framework is publicly available and can easily be adapted for further applications.

Published
2023

9. 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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11. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.

Author

Tezenas du Montcel, Sophie, Petit, Emilien, Olubajo, Titilayo, Faber, Jennifer, Lallemant-Dudek, Pauline, Bushara, Khalaf, Perlman, Susan, Subramony, Sub, Morgan, David, Jackman, Brianna, Paulson, Henry, Öz, Gülin, Klockgether, Thomas, Durr, Alexandra, and Ashizawa, Tetsuo

Subjects
Humans, Prospective Studies, Spinocerebellar Ataxias, Cerebellar Ataxia, Cerebellum, Biomarkers, Machado-Joseph Disease
Abstract

BACKGROUND AND OBJECTIVES: In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations, or biomarker modifications. READISCA is a prospective, longitudinal observational study of patients with spinocerebellar ataxia type 1 (SCA1) and 3 (SCA3) to provide essential markers for therapeutic interventions. We looked for clinical, imaging, or biological markers that are present at an early stage of the disease. METHODS: We enrolled carriers of a pathologic ATXN1 or ATXN3 expansion and controls from 18 US and 2 European ataxia referral centers. Clinical, cognitive, quantitative motor, neuropsychological measures and plasma neurofilament light chain (NfL) measurements were compared between expansion carriers with and without ataxia and controls. RESULTS: We enrolled 200 participants: 45 carriers of a pathologic ATXN1 expansion (31 patients with ataxia [median Scale for the Assessment and Rating of Ataxia: 9; 7-10] and 14 expansion carriers without ataxia [1; 0-2]) and 116 carriers of a pathologic ATXN3 expansion (80 patients with ataxia [7; 6-9] and 36 expansion carriers without ataxia [1; 0-2]). In addition, we enrolled 39 controls who did not carry a pathologic expansion in ATXN1 or ATXN3. Plasma NfL levels were significantly higher in expansion carriers without ataxia than controls, despite similar mean age (controls: 5.7 pg/mL, SCA1: 18.0 pg/mL [p < 0.0001], SCA3: 19.8 pg/mL [p < 0.0001]). Expansion carriers without ataxia differed from controls by significantly more upper motor signs (SCA1 p = 0.0003, SCA3 p = 0.003) and by the presence of sensor impairment and diplopia in SCA3 (p = 0.0448 and 0.0445, respectively). Functional scales, fatigue and depression scores, swallowing difficulties, and cognitive impairment were worse in expansion carriers with ataxia than those without ataxia. Ataxic SCA3 participants showed extrapyramidal signs, urinary dysfunction, and lower motor neuron signs significantly more often than expansion carriers without ataxia. DISCUSSION: READISCA showed the feasibility of harmonized data acquisition in a multinational network. NfL alterations, early sensory ataxia, and corticospinal signs were quantifiable between preataxic participants and controls. Patients with ataxia differed in many parameters from controls and expansion carriers without ataxia, with a graded increase of abnormal measures from control to preataxic to ataxic cohorts. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov NCT03487367.

Published
2023

12. Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3.

Author

Chandrasekaran, Jayashree, Petit, Emilien, Park, Young, du Montcel, Sophie, Joers, James, Deelchand, Dinesh, Považan, Michal, Banan, Guita, Valabregue, Romain, Ehses, Philipp, Faber, Jennifer, Coupé, Pierrick, Onyike, Chiadi, Barker, Peter, Schmahmann, Jeremy, Ratai, Eva-Maria, Subramony, S, Mareci, Thomas, Bushara, Khalaf, Paulson, Henry, Durr, Alexandra, Klockgether, Thomas, Ashizawa, Tetsuo, Lenglet, Christophe, and Öz, Gülin

Subjects
Humans, Activities of Daily Living, Spinocerebellar Ataxias, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Ataxia, Cerebellar Ataxia
Abstract

OBJECTIVE: This study was undertaken to identify magnetic resonance (MR) metrics that are most sensitive to early changes in the brain in spinocerebellar ataxia type 1 (SCA1) and type 3 (SCA3) using an advanced multimodal MR imaging (MRI) protocol in the multisite trial setting. METHODS: SCA1 or SCA3 mutation carriers and controls (n = 107) underwent MR scanning in the US-European READISCA study to obtain structural, diffusion MRI, and MR spectroscopy data using an advanced protocol at 3T. Morphometric, microstructural, and neurochemical metrics were analyzed blinded to diagnosis and compared between preataxic SCA (n = 11 SCA1, n = 28 SCA3), ataxic SCA (n = 14 SCA1, n = 37 SCA3), and control (n = 17) groups using nonparametric testing accounting for multiple comparisons. MR metrics that were most sensitive to preataxic abnormalities were identified using receiver operating characteristic (ROC) analyses. RESULTS: Atrophy and microstructural damage in the brainstem and cerebellar peduncles and neurochemical abnormalities in the pons were prominent in both preataxic groups, when patients did not differ from controls clinically. MR metrics were strongly associated with ataxia symptoms, activities of daily living, and estimated ataxia duration. A neurochemical measure was the most sensitive metric to preataxic changes in SCA1 (ROC area under the curve [AUC] = 0.95), and a microstructural metric was the most sensitive metric to preataxic changes in SCA3 (AUC = 0.92). INTERPRETATION: Changes in cerebellar afferent and efferent pathways underlie the earliest symptoms of both SCAs. MR metrics collected with a harmonized advanced protocol in the multisite trial setting allow detection of disease effects in individuals before ataxia onset with potential clinical trial utility for subject stratification. ANN NEUROL 2023;93:686-701.

Published
2023

13. Interactive cohort exploration for spinocerebellar ataxias using synthetic cohort data for visualization

Author

Wegner, Philipp, Schaaf, Sebastian, Uebachs, Mischa, Grobe-Einsler, Marcus, Klockgether, Thomas, Fluck, Juliane, and Faber, Jennifer

Subjects
Quantitative Biology - Quantitative Methods
Abstract

Motivation: Visualization of data is a crucial step to understanding and deriving hypotheses from clinical data. However, for clinicians, visualization often comes with great effort due to the lack of technical knowledge about data handling and visualization. The application offers an easy-to-use solution with an intuitive design that enables various kinds of plotting functions. The aim was to provide an intuitive solution with a low entrance barrier for clinical users. Little to no onboarding is required before creating plots, while the complexity of questions can grow up to specific corner cases. To allow for an easy start and testing with SCAview, we incorporated a synthetic cohort dataset based on real data of rare neurological movement disorders: the most common autosomal-dominantly inherited spinocerebellar ataxias (SCAs) type 1, 2, 3, and 6 (SCA1, 2, 3 and 6). Methods: We created a Django-based backend application that serves the data to a React-based frontend that uses Plotly for plotting. A synthetic cohort was created to deploy a version of SCAview without violating any data protection guidelines. Here, we added normal distributed noise to the data and therefore prevent re-identification while keeping distributions and general correlations. Results: This work presents SCAview, an user-friendly, interactive web-based service that enables data visualization in a clickable interface allowing intuitive graphical handling that aims to enable data visualization in a clickable interface. The service is deployed and can be tested with a synthetic cohort created based on a large, longitudinal dataset from observational studies in the most common SCAs.

Published
2022

15. 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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16. 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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17. 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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19. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Author

Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, and Durr, Alexandra

Published
2023
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22. CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation

Author

Giunti, Paola, Garcia-Moreno, Hector, Jacobi, Heike, Jende, Johann, de Vries, Jeroen, Povazan, Michal, Barker, Peter B., Steiner, Katherina Marie, Krahe, Janna, Faber, Jennifer, Kügler, David, Bahrami, Emad, Heinz, Lea-Sophie, Timmann, Dagmar, Ernst, Thomas M., Deike-Hofmann, Katerina, Klockgether, Thomas, van de Warrenburg, Bart, van Gaalen, Judith, Reetz, Kathrin, Romanzetti, Sandro, Oz, Gulin, Joers, James M., Diedrichsen, Jorn, and Reuter, Martin

Published
2022
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24. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

Author

Pellerin, David, primary, Wilke, Carlo, additional, Traschütz, Andreas, additional, Nagy, Sara, additional, Currò, Riccardo, additional, Dicaire, Marie-Josée, additional, Garcia-Moreno, Hector, additional, Anheim, Mathieu, additional, Wirth, Thomas, additional, Faber, Jennifer, additional, Timmann, Dagmar, additional, Depienne, Christel, additional, Rujescu, Dan, additional, Gazulla, Jose, additional, Reilly, Mary M., additional, Giunti, Paola, additional, Brais, Bernard, additional, Houlden, Henry, additional, Schöls, Ludger, additional, Strupp, Michael, additional, Cortese, Andrea, additional, and Synofzik, Matthis, additional

Published
2023
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25. Cerebellar volumetry in ataxias: Relation to ataxia severity and duration

Author

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

Published
2023
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26. 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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27. Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.

Author

Faber, Jennifer, Berger, Moritz, Wilke, Carlo, Hubener‐Schmid, Jeannette, Schaprian, Tamara, Santana, Magda M., Grobe‐Einsler, Marcus, Onder, Demet, Koyak, Berkan, Giunti, Paola, Garcia‐Moreno, Hector, Gonzalez‐Robles, Cristina, Lima, Manuela, Raposo, Mafalda, Melo, Ana Rosa Vieira, de Almeida, Luís Pereira, Silva, Patrick, Pinto, Maria M., van de Warrenburg, Bart P., and van Gaalen, Judith

Subjects
*CEREBELLUM degeneration, *SPINOCEREBELLAR ataxia, *BIOMARKERS, *WHITE matter (Nerve tissue), *DISEASE vectors, *ATAXIA, *CYTOPLASMIC filaments
Abstract

Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross‐sectional data of 292 spinocerebellar ataxia type 3/Machado–Joseph disease mutation carriers. Blood concentrations of mutant ATXN3 were high before and after ataxia onset, whereas neurofilament light deviated from normal 13.3 years before onset. Pons and cerebellar white matter volumes decreased and deviated from normal 2.2 years and 0.6 years before ataxia onset. We propose a staging model of spinocerebellar ataxia type 3/Machado–Joseph disease that includes a biomarker stage characterized by objective indicators of neurodegeneration before ataxia onset. ANN NEUROL 2024;95:400–406 [ABSTRACT FROM AUTHOR]

Published
2024
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28. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.

Author

Pellerin, David, Wilke, Carlo, Traschütz, Andreas, Nagy, Sara, Currò, Riccardo, Dicaire, Marie-Josée, Garcia-Moreno, Hector, Anheim, Mathieu, Wirth, Thomas, Faber, Jennifer, Timmann, Dagmar, Depienne, Christel, Rujescu, Dan, Gazulla, José, Reilly, Mary M., Giunti, Paola, Brais, Bernard, Houlden, Henry, Schöls, Ludger, and Strupp, Michael

Subjects
SPINOCEREBELLAR ataxia, ATAXIA, NEUROPATHY, FRIEDREICH'S ataxia
Published
2024
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31. The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Author

Hengel, Holger, Martus, Peter, Silva, Patrick, Cunha, Maria Ines, de Almeida, Luís Pereira, Timmann, Dagmar, Infante, Jon, de Vries, Jeroen, Lima, Manuela, Pires, Paula, Bushara, Khalaf, Jacobi, Heike, Faber, Jennifer, Onyike, Chiadi, Schmahmann, Jeremy D, Hübener-Schmid, Jeannette, Synofzik, Matthis, Initiative, European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease, Schöls, Ludger, Giunit, Paola, Garcia-Moreno, Hector, Solanky, Nita, Klockgether, Thomas, Reetz, Kathrin, van de Warrenburg, Bart P, and Santana, Magda M

Subjects
Physical activity, Patient Acuity, Medizin, Non-motor symptoms, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Lifestyle, Cross-Sectional Studies, All institutes and research themes of the Radboud University Medical Center, SCA3, Neurology, Activities of Daily Living, Humans, Prospective Studies, ddc:610, Neurology (clinical), Life Style, epidemiology [Restless Legs Syndrome]
Abstract

Journal of neurology (2022). doi:10.1007/s00415-022-11441-z, Published by Springer, Berlin

Published
2022

32. IntronicFGF14GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

Author

Pellerin, David, primary, Wilke, Carlo, additional, Traschütz, Andreas, additional, Nagy, Sara, additional, Currò, Riccardo, additional, Dicaire, Marie-Josée, additional, Garcia-Moreno, Hector, additional, Anheim, Mathieu, additional, Wirth, Thomas, additional, Faber, Jennifer, additional, Timmann, Dagmar, additional, Depienne, Christel, additional, Rujescu, Dan, additional, Gazulla, José, additional, Reilly, Mary M, additional, Giunti, Paola, additional, Brais, Bernard, additional, Houlden, Henry, additional, Schöls, Ludger, additional, Strupp, Michael, additional, Cortese, Andrea, additional, and Synofzik, Matthis, additional

Published
2023
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34. Intronic FGF14GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

Author

Pellerin, David, Wilke, Carlo, Traschu¨tz, Andreas, Nagy, Sara, Currò, Riccardo, Dicaire, Marie-Josée, Garcia-Moreno, Hector, Anheim, Mathieu, Wirth, Thomas, Faber, Jennifer, Timmann, Dagmar, Depienne, Christel, Rujescu, Dan, Gazulla, José, Reilly, Mary M, Giunti, Paola, Brais, Bernard, Houlden, Henry, Scho¨ls, Ludger, Strupp, Michael, Cortese, Andrea, and Synofzik, Matthis

Abstract

BackgroundIntronic GAA repeat expansions in the fibroblast growth factor 14 gene (FGF14) have recently been identified as a common cause of ataxia with potential phenotypic overlap with RFC1-related cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Our objective was to report on the frequency of intronic FGF14GAA repeat expansions in patients with an unexplained CANVAS-like phenotype.MethodsWe recruited 45 patients negative for biallelic RFC1repeat expansions with a combination of cerebellar ataxia plus peripheral neuropathy and/or bilateral vestibulopathy (BVP), and genotyped the FGF14repeat locus. Phenotypic features of GAA-FGF14-positive versus GAA-FGF14-negative patients were compared.ResultsFrequency of FGF14GAA repeat expansions was 38% (17/45) in the entire cohort, 38% (5/13) in the subgroup with cerebellar ataxia plus polyneuropathy, 43% (9/21) in the subgroup with cerebellar ataxia plus BVP and 27% (3/11) in patients with all three features. BVP was observed in 75% (12/16) of GAA-FGF14-positive patients. Polyneuropathy was at most mild and of mixed sensorimotor type in six of eight GAA-FGF14-positive patients. Family history of ataxia (59% vs 15%; p=0.007) was significantly more frequent and permanent cerebellar dysarthria (12% vs 54%; p=0.009) significantly less frequent in GAA-FGF14-positive than in GAA-FGF14-negative patients. Age at onset was inversely correlated to the size of the repeat expansion (Pearson’s r, −0.67; R2=0.45; p=0.0031).ConclusionsGAA-FGF14-related disease is a common cause of cerebellar ataxia with polyneuropathy and/or BVP, and should be included in the differential diagnosis of RFC1CANVAS and disease spectrum.

Published
2024
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36. Validation of a German version of the Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale: preliminary version and study protocol

Author

Thieme, Andreas, Roeske, Sandra, Faber, Jennifer, Sulzer, Patricia, Minnerop, Martina, Elben, Saskia, Jacobi, Heike, Reetz, Kathrin, Dogan, Imis, Barkhoff, Miriam, Konczak, Juergen, Wondzinski, Elke, Siebler, Mario, Mueller, Oliver, Sure, Ulrich, Schmahmann, Jeremy D., Klockgether, Thomas, Synofzik, Matthis, and Timmann, Dagmar

Published
2020
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37. Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.

Author

Raposo, Mafalda, Hübener-Schmid, Jeannette, Ferreira, Ana F, Melo, Ana Rosa Vieira, Vasconcelos, João, Pires, Paula, Kay, Teresa, Garcia-Moreno, Hector, Giunti, Paola, Santana, Magda M, Almeida, Luis Pereira de, Infante, Jon, Warrenburg, Bart P van de, Vries, Jeroen J de, Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob, Schöls, Ludger, and group, European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study

Subjects
CEREBELLUM degeneration, SPINOCEREBELLAR ataxia, DISEASE progression, BIOMARKERS, TRANSCRIPTOMES, RNA sequencing, INDEPENDENT sets
Abstract

Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), an autosomal dominant ataxia caused by a polyglutamine expansion in the ataxin-3 protein. As ataxin-3 is ubiquitously expressed, transcriptional alterations in blood may reflect early changes that start before clinical onset and might serve as peripheral biomarkers in clinical and research settings. Our goal was to describe enriched pathways and report dysregulated genes, which can track disease onset, severity or progression in carriers of the ATXN3 mutation (pre-ataxic subjects and patients). Global dysregulation patterns were identified by RNA sequencing of blood samples from 40 carriers of ATXN3 mutation and 20 controls and further compared with transcriptomic data from post-mortem cerebellum samples of MJD patients and controls. Ten genes— ABCA1 , CEP72 , PTGDS , SAFB2 , SFSWAP , CCDC88C , SH2B1 , LTBP4 , MEG3 and TSPOAP1 —whose expression in blood was altered in the pre-ataxic stage and simultaneously, correlated with ataxia severity in the overt disease stage, were analysed by quantitative real-time PCR in blood samples from an independent set of 170 SCA3/MJD subjects and 57 controls. Pathway enrichment analysis indicated the Gαi signalling and the oestrogen receptor signalling to be similarly affected in blood and cerebellum. SAFB2 , SFSWAP and LTBP4 were consistently dysregulated in pre-ataxic subjects compared to controls, displaying a combined discriminatory ability of 79%. In patients, ataxia severity was associated with higher levels of MEG3 and TSPOAP1. We propose expression levels of SAFB2 , SFSWAP and LTBP4 as well as MEG3 and TSPOAP1 as stratification markers of SCA3/MJD progression, deserving further validation in longitudinal studies and in independent cohorts. [ABSTRACT FROM AUTHOR]

Published
2023
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41. Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia

Author

Oender, Demet, primary, Faber, Jennifer, additional, Wilke, Carlo, additional, Schaprian, Tamara, additional, Lakghomi, Asadeh, additional, Mengel, David, additional, Schöls, Ludger, additional, Traschütz, Andreas, additional, Fleszar, Zofia, additional, Dufke, Claudia, additional, Vielhaber, Stefan, additional, Machts, Judith, additional, Giordano, Ilaria, additional, Grobe‐Einsler, Marcus, additional, Klopstock, Thomas, additional, Stendel, Claudia, additional, Boesch, Sylvia, additional, Nachbauer, Wolfgang, additional, Timmann‐Braun, Dagmar, additional, Thieme, Andreas Gustafsson, additional, Kamm, Christoph, additional, Dudesek, Ales, additional, Tallaksen, Chantal, additional, Wedding, Iselin, additional, Filla, Alessandro, additional, Schmid, Matthias, additional, Synofzik, Matthis, additional, and Klockgether, Thomas, additional

Published
2023
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42. High-resolution whole-brain multi-parameter mapping at 7 Tesla with interleaved fly-back 3D-EPI and universal pTX pulses

Author

Stirnberg, Rüdiger, Völzke, Yannik, Löwen, Daniel, Pracht, Eberhard D., Gras, Vincent, Boulant, Nicolas, Sherif, Siya, Difei Wang, Ferreira, Mónica, Faber, Jennifer, and Stöcker, Tony

Abstract

We present a versatile high-resolution whole-brain multiparametric/susceptibility mapping protocol at 7T, introducing interleaved fly-back skipped-CAIPI 3D-EPI. To overcome the impeding limitations of B1 + inhomogeneity, universal pTX pulses for excitation and magnetization transfer saturation are employed. Within 17 minutes scan time, 0.6mm isotropic whole-brain MT-/PD-/T1-weighted magnitude and phase images at four echo times and corresponding quantitative parameter maps are obtained. Supplementary output, like SWI and MPRAGElike images can be generated as well. Scan efficiency is high and geometric distortions are negligible. Optionally, the interleaved fly-back acquisition allows a separate analysis of two monopolar readout images.

Published
2023
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43. SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias

Author

Uebachs, Mischa, Wegner, Philipp, group, RISCA study, group, CRC-SCA study, group, SCA Registry study, Klockgether, Thomas, Faber, Jennifer, Schaaf, Sebastian, Kugai, Simon, Jacobi, Heike, Kuo, Sheng-Han, Ashizawa, Tetsuo, Fluck, Juliane, group, EUROSCA study, group, ESMI study, Schulz, Jörg B, Riess, Olaf, Reetz, Kathrin, Figueroa, Karla P, Perlman, Susan L, Gomez, Christopher M, Wilmot, George R, Schmahmann, Jeremy D, Ying, Sarah H, Zesiewicz, Theresa A, Paulson, Henry L, Shakkottai, Vikram G, Bushara, Khalaf, Geschwind, Michael D, Xia, Guangbin, Pulst, Stefan M, Subramony, Sub H, Grobe-Einsler, Marcus, Önder, Demet, Koyak, Berkan, du Montcel, Sophie Tezenas, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P, Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Kang, Jun-Suk, Pandolfo, Massimo, Molho, Sonia, Diallo, Alhassane, Raposo, Mafalda, Vasconcelos, João, Lima, Manuela, de Almeida, Luís Pereira, Silva, Patrick, Cunha, Inês, Garcia-Moreno, Hector, Manso, Katarina, Synofzik, Matthis, Traschuetz, Andreas, van de Warrenburg, Bart, van Gaalen, Judith, Perbolt, Tessa, Hutter, Diane, Manrique, Leire, Thieme, Andreas, Erdlenbruch, Friedrich, Onyike, Chiadi, Fishman, Ann, Dogan, Imis, Ratai, Eva, Schmahmann, Jeremy, Santana, Magda, Hübener-Schmid, Jeannette, Romanzetti, Sandro, Harmuth, Florian, Makowicz, Grzegorz, Roca, Alessandro, Casalo, Carlo, Masciullo, Marcella, Nachbauer, Wolfgang, and Bürk-Gergs, Katrin

Subjects
Spinocerebellar ataxia (SCA), ddc:610, Observational studies, Visualization
Abstract

With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a graphical handling and filtering to select and define subgroups and their comparison. Several plot types to visualize all data points resulting from the selected attributes are provided. The underlying synthetic cohort is based on clinical data from five different European and US longitudinal multicenter cohorts in spinocerebellar ataxia type 1, 2, 3, and 6 (SCA1, 2, 3, and 6) comprising > 1400 patients with overall > 5500 visits. First, we developed a common data model to integrate the clinical, demographic, and characterizing data of each source cohort. Second, the available datasets from each cohort were mapped onto the data model. Third, we created a synthetic cohort based on the cleaned dataset. With SCAview, we demonstrate the feasibility of mapping cohort data from different sources onto a common data model. The resulting browser-based visualization tool with a thoroughly graphical handling of the data offers researchers the unique possibility to visualize relationships and distributions of clinical data, to define subgroups and to further investigate them without any technical effort. Access to SCAview can be requested via the Ataxia Global Initiative and is free of charge.

Published
2023

44. MR Imaging in Ataxias : Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers

Author

Öz, Gülin, Cocozza, Sirio, Henry, Pierre-Gilles, Lenglet, Christophe, Deistung, Andreas, Faber, Jennifer, Schwarz, Adam J., Timmann-Braun, Dagmar, Van Dijk, Koene R. A., and Harding, Ian H.

Subjects
Medizin
Abstract

With many viable strategies in the therapeutic pipeline, upcoming clinical trials in hereditary and sporadic degenerative ataxias will benefit from non-invasive MRI biomarkers for patient stratification and the evaluation of therapies. The MRI Biomarkers Working Group of the Ataxia Global Initiative therefore devised guidelines to facilitate harmonized MRI data acquisition in clinical research and trials in ataxias. Recommendations are provided for a basic structural MRI protocol that can be used for clinical care and for an advanced multi-modal MRI protocol relevant for research and trial settings. The advanced protocol consists of modalities with demonstrated utility for tracking brain changes in degenerative ataxias and includes structural MRI, magnetic resonance spectroscopy, diffusion MRI, quantitative susceptibility mapping, and resting-state functional MRI. Acceptable ranges of acquisition parameters are provided to accommodate diverse scanner hardware in research and clinical contexts while maintaining a minimum standard of data quality. Important technical considerations in setting up an advanced multi-modal protocol are outlined, including the order of pulse sequences, and example software packages commonly used for data analysis are provided. Outcome measures most relevant for ataxias are highlighted with use cases from recent ataxia literature. Finally, to facilitate access to the recommendations by the ataxia clinical and research community, examples of datasets collected with the recommended parameters are provided and platform-specific protocols are shared via the Open Science Framework. in press

Published
2023

45. A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia

Author

Santana, Magda M., Gaspar, Laetitia S., Pinto, Maria M., Silva, Patrick, Adão, Diana, Pereira, Dina, Ribeiro, Joana Afonso, Cunha, Inês, Huebener-Schmid, Jeannette, Raposo, Mafalda, Ferreira, Ana F., Faber, Jennifer, Kuhs, Sandra, Garcia-Moreno, Hector, Reetz, Kathrin, Thieme, Andreas, Infante, Jon, Warrenburg, Bart P. C. van de, Giunti, Paola, Riess, Olaf, Schöls, Ludger, Lima, Manuela, Klockgether, Thomas, Januário, Cristina, Almeida, Luís Pereira de, Krahe, Janna, Gaalen, Judith van, Gonzalez-Robles, Cristina, Fleszar, Zofia, Pelayo-Negro, Ana Lara, Manrique, Leire, Timmann-Braun, Dagmar, Steiner, Katharina M., Melo, Ana Rosa Vieira, van de Warrenburg, Bart P. C., de Almeida, Luís Pereira, van Gaalen, Judith, Krahe, Janna, van Gaalen, Judith, Gonzalez-Robles, Cristina, Fleszar, Zofia, Pelayo-Negro, Ana Lara, Manrique, Leire, Timmann, Dagmar, Steiner, Katharina M, and Melo, Ana Rosa Vieira

Subjects
Histology, research, Cerebellar Ataxia, ataxia, Medizin, biomarkers, standardisation, Machado-Joseph Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], cerebrospinal fluid, Pathology and Forensic Medicine, All institutes and research themes of the Radboud University Medical Center, Neurology, blood, Physiology (medical), Humans, Spinocerebellar Ataxias, neurodegenerative diseases, Neurology (clinical), ddc:610, protocol, Spinocerebellar Degenerations
Abstract

Contains fulltext : 292317.pdf (Publisher’s version ) (Open Access) The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardisation was done previously to study visit initiation. Here, we describe the ESMI consensus biosampling protocol, developed within the scope of ESMI, that ultimately might be translated to other neurodegenerative disorders, particularly ataxias, being the first step to protocol harmonisation in the field. 01 april 2023

Published
2023

46. 6 .Diagnostische Methoden

Author

Hausner, Lucrezia, primary, Frölich, Lutz, additional, Wagner, Michael, additional, Frommann, Ingo, additional, Dick, Sandra, additional, Rapp, Michael A., additional, Kilimann, Ingo, additional, Grothe, Michel, additional, Teipel, Stefan, additional, Drzezga, Alexander, additional, Vogelgsang, Jonathan, additional, Neychev, Evgeni, additional, Wiltfang, Jens, additional, Jessen, Frank, additional, Fließbach, Klaus, additional, Faber, Jennifer, additional, Düzel, Emrah, additional, and Riepe, Matthias, additional

Published
2018
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47. CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation

Author

Faber, Jennifer, primary, Kügler, David, additional, Bahrami, Emad, additional, Heinz, Lea-Sophie, additional, Timmann, Dagmar, additional, Ernst, Thomas M., additional, Deike-Hofmann, Katerina, additional, Klockgether, Thomas, additional, van de Warrenburg, Bart, additional, van Gaalen, Judith, additional, Reetz, Kathrin, additional, Romanzetti, Sandro, additional, Oz, Gulin, additional, Joers, James M., additional, Diedrichsen, Jorn, additional, Reuter, Martin, additional, Giunti, Paola, additional, Garcia-Moreno, Hector, additional, Jacobi, Heike, additional, Jende, Johann, additional, de Vries, Jeroen, additional, Povazan, Michal, additional, Barker, Peter B., additional, Steiner, Katherina Marie, additional, and Krahe, Janna, additional

Published
2022
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48. CerebNet

Author

Faber, Jennifer, Kügler, David, Reetz, Kathrin, Romanzetti, Sandro, Oz, Gulin, Joers, James M, Diedrichsen, Jorn, Group, ESMI MRI Study, Reuter, Martin, Giunti, Paola, Garcia-Moreno, Hector, Jacobi, Heike, Bahrami, Emad, Jende, Johann, de Vries, Jeroen, Povazan, Michal, Barker, Peter B, Steiner, Katherina Marie, Krahe, Janna, Heinz, Lea-Sophie, Timmann, Dagmar, Ernst, Thomas M, Deike-Hofmann, Katerina, Klockgether, Thomas, van de Warrenburg, Bart, van Gaalen, Judith, Giunti, Paola, Garcia-Moreno, Hector, Jacobi, Heike, Jende, Johann, de Vries, Jeroen, Povazan, Michal, Barker, Peter B., Steiner, Katherina Marie, and Krahe, Janna

Subjects
CerebNet, Computational neuroimaging, Cognitive Neuroscience, Medizin, Reproducibility of Results, Deep learning, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], diagnostic imaging [Cerebellum], Magnetic Resonance Imaging, Deep Learning, methods [Magnetic Resonance Imaging], Neurology, methods [Image Processing, Computer-Assisted], Cerebellum, Image Processing, Computer-Assisted, Humans, ddc:610
Abstract

NeuroImage 264, 119703 (2022). doi:10.1016/j.neuroimage.2022.119703, Published by Academic Press, Orlando, Fla.

Published
2022

49. Sensory and corticospinal signs before ataxia onset in SCA1 and SCA3: the READISCA study

Author

Montcel, Sophie Tezenas Du, Petit, Emilien, Olubajo, Titi, Faber, Jennifer, Lallemant-Dudek, Pauline, Bushara, Khalaf, Perlman, Susan, Subramony, S. H., Morgan, David, Jackman, Brianna, Paulson, Henry, Öz, Gülin, Klockgether, Thomas, Durr, Alexandra, Ashizawa, Tetsuo, Algorithms, models and methods for images and signals of the human brain (ARAMIS), Sorbonne Université (SU)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-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)-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)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau = Paris Brain Institute (ICM), 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), Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS), Methodist Hospital Research Institute, University Hospital Bonn, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Minnesota System, University of California (UC), The University of Florida College of Medicine, Michigan State University System, University of Michigan [Ann Arbor], University of Michigan System, University of Minnesota Medical School, Universität Bonn = University of Bonn, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), and Texas A&M University [College Station]

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience

Published
2022

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