Ausgabe 3/2024
Special Issue on Trial-readiness in Ataxias
Inhalt (45 Artikel)
Scale for the Assessment and Rating of Ataxia (SARA): Development of a Training Tool and Certification Program
Marcus Grobe-Einsler, Arian Taheri Amin, Jennifer Faber, Hartmut Völkel, Matthis Synofzik, Thomas Klockgether
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers
Filippo M. Santorelli, Hayley S. McLoughlin, Justin M. Wolter, Daniele Galatolo, Matthis Synofzik, David Mengel, Puneet Opal, Antonijevic Irina, Auburger Georg, Bataller Luis, Bertini Enrico, Boesch Sylvia, Boeshore Samantha, Buijsen Ronald, Chan Edwin, Coarelli Giulia, Dupré Nicolas, Durr Alexandra, Eigentler Andreas, Elert-Dobkowska Ewelina, Espinos Carmen, Faruq Mohammed, Fichera Mario, Fogel Brent, Garces Pilar, Graessner Holm, Heidari Morteza, Houlden Henry, Hübener-Schmid Jeannette, Jardim Laura, Onodera Osamu, Pereira Almeida de Luis, Primiano Guido, Puccio Hélène, Rosenthal Liana, Saccà Francesco, Saraiva-Pereira Maria Luiza, Schmidt Thorsten, Schöls Ludger, Silvestri Gabriella, Zach Neta
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
Mischa Uebachs, Philipp Wegner, Sebastian Schaaf, Simon Kugai, Heike Jacobi, Sheng-Han Kuo, Tetsuo Ashizawa, Juliane Fluck, Sophie Tezenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael H. Parkinson, Alexandra Durr, Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sulek, Anna Sobanska, Tanja Schmitz-Hübsch, Ludger Schöls, Holger Hengel, Laszlo Baliko, Bela Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P. van de Warrenburg, Dagmar Timmann, Sandra Szymanski, Sylvia Boesch, Jun-Suk Kang, Massimo Pandolfo, Jörg B. Schulz, Sonia Molho, Alhassane Diallo, Marcus Grobe-Einsler, Demet Önder, Mafalda Raposo, João Vasconcelos, Manuela Lima, Luís Pereira de Almeida, Patrick Silva, Inês Cunha, Paola Giunti, Hector Garcia-Moreno, Katarina Manso, Matthis Synofzik, Holger Hengel, Andreas Traschütz, Bart van de Warrenburg, Judith van Gaalen, Tessa Perbolt, Khalaf Bushara, Diane Hutter, Jon Infante, Leire Manrique, Andreas Thieme, Friedrich Erdlenbruch, Chiadi Onyike, Ann Fishman, Kathrin Reetz, Imis Dogan, Eva Ratai, Jeremy Schmahmann, Magda Santana, Jeannette Hübener-Schmid, Sophie Tezenas du Montcel, Sandro Romanzetti, Florian Harmuth, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Grzegorz Makowicz, Alexandra Durr, Alessandro Filla, Alessandro Roca, Ludger Schöls, Holger Hengel, Jon Infante, Jun-Suk Kang, Carlo Casalo, Marcella Masciullo, Laszlo Baliko, Bela Melegh, Wolfgang Nachbauer, Katrin Bürk-Gergs, Jörg B. Schulz, Olaf Riess, Kathrin Reetz, Karla P. Figueroa, Susan L. Perlman, Christopher M. Gomez, George R. Wilmot, Jeremy D. Schmahmann, Sarah H. Ying, Theresa A. Zesiewicz, Henry L. Paulson, Vikram G. Shakkottai, Khalaf Bushara, Michael D. Geschwind, Guangbin Xia, Stefan M. Pulst, Sub H. Subramony, Marcus Grobe-Einsler, Demet Önder, Berkan Koyak, Kathrin Reetz, Thomas Klockgether, Jennifer Faber
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers
Pilar Garces, Chrystalina A. Antoniades, Anna Sobanska, Norbert Kovacs, Sarah H. Ying, Anoopum S. Gupta, Susan Perlman, David J. Szmulewicz, Chiara Pane, Andrea H. Németh, Laura B. Jardim, Giulia Coarelli, Michaela Dankova, Andreas Traschütz, Alexander A. Tarnutzer
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
Andrea H. Németh, Chrystalina A. Antoniades, Juergen Dukart, Martina Minnerop, Clara Rentz, Bart-Jan Schuman, Bart van de Warrenburg, Ilse Willemse, Enrico Bertini, Anoopum S. Gupta, Carlos Bandeira de Mello Monteiro, Hajar Almoajil, Lori Quinn, Susan B. Perlman, Fay Horak, Winfried Ilg, Andreas Traschütz, Adam P. Vogel, Helen Dawes
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Thomas Klockgether, Matthis Synofzik, Saud Alhusaini, Mathieu Anheim, Irina Antonijevic, Tee Ashizawa, Luis Bataller, Mélanie Berard, Enrico Bertini, Sylvia Boesch, Pedro Braga-Neto, Emanuel Cassou, Edwin Chan, Rosalind Chuang, Abbie Collins, Joana Damásio, Karina Donis, Antoine Duquette, João Durães, Alexandra Durr, Rebecca Evans, Jennifer Faber, Jennifer Farmer, Vincenzo Gennarino, Holm Graessner, Marcus Grobe-Einsler, Hasmet Hanagasie, Morteza Heidari, Henry Houlden, Elisabetta Indelicato, Kinya Ishikawa, Heike Jacobi, Laura Jardim, Yaz Kisanuki, Svetlana Kopishinskaia, Gilbert L´Italien, Roderick Maas, Michelangelo Mancuso, Caterina Mariotti, Norlinah Mohamed Ibrahim, Wolfgang Nachbauer, Andrea Nemeth, Yi Shiau Ng, Katja Obieglo, Osamu Onodera, Puneet Opal, Luis Pereira de Almeida, Susan Perlman, Guido Primiano, Mathilde Renaud, Liana Rosenthal, Francesco Saccà, Zahid Sattar, Tanja Schmitz-Hübsch, Ludger Schöls, Rebecca Schüle, Lauren Seeberger, Gabriella Silvestri, Anna Sobanska, Bin-Weng Soong, Achal Kumar Srivastava, Colleen Stoyas, Sophie Tezenas du Montcel, Andreas Thieme, Dagmar Timmann, Adina Tocoian, Andreas Traschütz, Bart van de Warrenburg, Wolfram Ziegler
MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers
Gülin Öz, Sirio Cocozza, Pierre-Gilles Henry, Christophe Lenglet, Andreas Deistung, Jennifer Faber, Adam J. Schwarz, Dagmar Timmann, Koene R. A. Van Dijk, Ian H. Harding, Astrid Adarmes-Gomez, Andreas Thieme, Kathrin Reetz, Marcin Rylski, Thiago JR Rezende, Vincenzo A. Gennarino, Eva-Maria Ratai, Caterina Mariotti, Anna Nigri, Lorenzo Nanetti, Martina Minnerop, Sylvia Boesch, Elisabetta Indelicato, Chiara Pinardi, Kirsi M Kinnunen, Niccolo Fuin, Alexander Gussew, Cherie Marvel, James Joers
Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers
Gülin Öz, Sirio Cocozza, Pierre-Gilles Henry, Christophe Lenglet, Andreas Deistung, Jennifer Faber, Adam J. Schwarz, Dagmar Timmann, Koene R. A. Van Dijk, Ian H. Harding, Astrid Adarmes-Gómez, Andreas Thieme, Kathrin Reetz, Marcin Rylski, Thiago JR Rezende, Vincenzo A. Gennarino, Eva-Maria Ratai, Caterina Mariotti, Anna Nigri, Lorenzo Nanetti, Martina Minnerop, Sylvia Boesch, Elisabetta Indelicato, Chiara Pinardi, Kirsi M Kinnunen, Niccolo Fuin, Alexander Gussew, Cherie Marvel, James Joers
Reducing the Risks of Nuclear War: the Role of Health Professionals
Kamran Abbasi, Parveen Ali, Virginia Barbour, Kirsten Bibbins-Domingo, Marcel GM Olde Rikkert, Andy Haines, Ira Helfand, Richard Horton, Bob Mash, Arun Mitra, Carlos Monteiro, Elena N. Naumova, Eric J. Rubin, Tilman Ruff, Peush Sahni, James Tumwine, Paul Yonga, Chris Zielinski
Serum Neurofilament Light-Chain Concentrations in Essential Tremor: a Case–Control Study
Meagen Salinas, Victor H. Salinas, Maisie McGurn, Nora Hernandez, Elan D. Louis
Head Orientation Modulates Vestibular Cerebellar Evoked Potentials (VsCEPs) and Reflexes Produced by Impulsive Mastoid and Midline Skull Stimulation
Sendhil Govender, Daniel Hochstrasser, Neil PM Todd, James G Colebatch
Comparison of Two Therapeutic Approaches of Cerebellar Transcranial Direct Current Stimulation in a Sardinian Family Affected by Spinocerebellar Ataxia 38: a Clinical and Computerized 3D Gait Analysis Study
Angela Sanna, Massimiliano Pau, Giuseppina Pilia, Micaela Porta, Giulia Casu, Valentina Secci, Emanuele Cartella, Alessandro Demattia, Stefano Firinu, Chiara Pau, Antonio Milia, Eleonora Cocco, Paolo Tacconi
Extremely Preterm Infants with a Near-total Absence of Cerebellum: Usefulness of Quantitative Magnetic Resonance in Predicting the Motor Outcome
Rosalinda Calandrelli, Laura Tuzza, Domenico Marco Romeo, Chiara Arpaia, Cesare Colosimo, Fabio Pilato
A Functional Atlas of the Cerebellum Based on NeuroSynth Task Coordinates
Frank Van Overwalle, Qianying Ma, Naem Haihambo, Tom Bylemans, Beatriz Catoira, Mahyar Firouzi, Meijia Li, Min Pu, Elien Heleven, Chris Baeken, Kris Baetens, Natacha Deroost
The Effect of taVNS on the Cerebello-Thalamo-Cortical Pathway: a TMS Study
Vesna M. van Midden, Zvezdan Pirtošek, Maja Kojović
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
Maresa Buchholz, Niklas Weber, Anika Rädke, Jennifer Faber, Tanja Schmitz-Hübsch, Heike Jacobi, Feng Xie, Thomas Klockgether, Bernhard Michalowsky, Sophie Tezenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael H. Parkinson, Alexandra Durr, Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sulek, Anna Sobanska, Ludger Schöls, Holger Hengel, Laszlo Baliko, Bela Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P. van de Warrenburg, Dagmar Timmann, Sandra Szymanski, Sylvia Boesch, Jun-Suk Kang, Massimo Pandolfo, Jörg B. Schulz, Sonia Molho, Alhassane Diallo, Jeanette Hübener-Schmid, Magda Santana, Marcus Grobe-Einsler, Berkan Koyak, Mafalda Raposo, Manuela Lima, Hector Garcia-Moreno, Paola Giunti, Luís Pereira de Almeida, Bart van de Warrenburg, Judith van Gaalen, Dagmar Timmann, Andreas Thieme, Kathrin Reetz, Imis Dogan, Carlo Wilke, Ludger Schöls, Olaf Riess, Matthis Synofzik, Jeroen de Vries, Jon Infante, Oz Gulin, James Joers, Chiadikaobi Onyike, Michal Povazan, Eva-Maria Ratai, Jeremy Schmahmann
Digital Motor Biomarkers of Cerebellar Ataxia Using an RGB-Depth Camera-Based Motion Analysis System
Masahide Suzuki, Shigeki Hirano, Karen Otte, Tanja Schmitz-Hübsch, Michiko Izumi, Mitsuyoshi Tamura, Ryota Kuroiwa, Atsuhiko Sugiyama, Masahiro Mori, Hanna M. Röhling, Alexander U. Brandt, Atsushi Murata, Friedemann Paul, Satoshi Kuwabara
Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders
Stacha F.I. Reumers, Dennis J.L.G. Schutter, Roderick P.P.W.M. Maas, Frank-Erik de Leeuw, Roy P.C. Kessels, Bart P.C. van de Warrenburg
Decreased Synaptic Vesicle Glycoprotein 2A Binding in the Human Postmortem Essential Tremor Cerebellum: Evidence of Reduction in Synaptic Density
Yanghong Yang, Chao Zheng, Baosheng Chen, Nora C. Hernandez, Phyllis L. Faust, Zhengxin Cai, Elan D. Louis, David Matuskey
Reinforcement Motor Learning After Cerebellar Damage Is Related to State Estimation
Christopher M. White, Evan C. Snow, Amanda S. Therrien
Convolutional Neural Network for Fully Automated Cerebellar Volumetry in Children in Comparison to Manual Segmentation and Developmental Trajectory of Cerebellar Volumes
Daria Juliane Sobootian, Paul Bronzlik, Loukia M. Spineli, Lena Sophie Becker, Hinrich Boy Winther, Eva Bueltmann
Electrophysiological Activity from the Eye Muscles, Cerebellum and Cerebrum During Reflexive (Classical Pavlovian) Versus Voluntary (Ivanov-Smolensky) Eye-Blink Conditioning
Neil P. M. Todd, Sendhil Govender, Peter E. Keller, James G. Colebatch
COVID-19 Impacts the Mental Health and Speech Function in Spinocerebellar Ataxia Type 2: Evidences from a Follow-Up Study
Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, Yasmany Gonzalez-Garcés, Nalia Canales-Ochoa, Jacqueline Medrano-Montero, Yennis Domínguez-Barrios, Frank J. Carrillo-Rodes, María B. Ramírez-Bautista, Alberto Caballero-Laguna, Osiel Gámez-Rodríguez, María O. Hernández-Oliver, Yamilca Sosa-Cruz, Arianna Zayas-Hernández, Yaimeé Vázquez-Mojena, Ulf Ziemann, Georg Auburger
NR1 Splicing Variant NR1a in Cerebellar Granule Neurons Constitutes a Better Motor Learning in the Mouse
Ting Tan, Linyan Jiang, Zhengxiao He, Xuejiao Ding, Xiaoli Xiong, Mingxi Tang, Yuan Chen, Yaping Tang
A Novel Paired Somatosensory-Cerebellar Stimulation Induces Plasticity on Cerebellar-Brain Connectivity
Francesca Ginatempo, Nicoletta Manzo, Danny A. Spampinato, Nicola Loi, Francesca Burgio, John C. Rothwell, Franca Deriu
Quantitative Speech Assessment in Ataxia—Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers
Adam P. Vogel, Anna Sobanska, Anoopum Gupta, Gessica Vasco, Marcus Grobe-Einsler, Susanna Summa, Stephanie Borel
The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
Elena Capacci, Silvia Bagnoli, Giulia Giacomucci, Costanza Maria Rapillo, Alessandra Govoni, Valentina Bessi, Cristina Polito, Irene Giotti, Alice Brogi, Elisabetta Pelo, Sandro Sorbi, Benedetta Nacmias, Camilla Ferrari
Relationship of Morphometrics and Symptom Severity in Female Type I Chiari Malformation Patients with Biological Resilience
Mohamad Motaz Al Samman, Monica A. Garcia, Maitane García, James R. Houston, Dorothy Loth, Richard Labuda, Sarel Vorster, Petra M. Klinge, Francis Loth, Douglas L. Delahanty, Philip A. Allen
Patient-Reported Outcome Measure of Ataxia Correlates with Canonical Clinical Assessments in Chinese Spinocerebellar Ataxias
Huajing You, Qiong Cai, Ziyue Ouyang, Xunhua Li, Chao Wu
Epidemiology of Spinocerebellar Ataxias in Europe
Filippo De Mattei, Fabio Ferrandes, Salvatore Gallone, Antonio Canosa, Andrea Calvo, Adriano Chiò, Rosario Vasta
Therapeutic Biomarkers in Friedreich’s Ataxia: a Systematic Review and Meta-analysis
Maria Gavriilaki, Evangelia Chatzikyriakou, Maria Moschou, Marianthi Arnaoutoglou, Ioanna Sakellari, Vasilios K. Kimiskidis
“Hot Cross Bun” Sign in a Patient with Glutamic Acid Decarboxylase 65-KDa Isoform Associated Cerebellar Ataxia: Case Report and Review of the Literature
Ruo-Nan Duan, Jing-Zhen He, Li-Li Cao
CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1
Ya-Ru Shao, Jin-Yang Yu, Yin Ma, Yi Dong, Zhi-Ying Wu
Cerebellar Effects on Abnormal Psychomotor Function Are Mediated by Processing Speed in Psychosis Spectrum
Alexandra B. Moussa-Tooks, Jinyuan Liu, Kristan Armstrong, Baxter Rogers, Neil D. Woodward, Stephan Heckers
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11
Yin-Qian Lu, Jian-Min Chen, Ya-Li Huang, Zhang-Yu Zou
Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation
Elena Contaldi, Silvia Gallo, Lucia Corrado, Sandra D’Alfonso, Luca Magistrelli
IgG4 Disease-Related Ataxia
Marios Hadjivassiliou, Daniel Blackburn, Ronan O’Malley, Nigel Hoggard
A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?
Elif Everest, Bade Gulec, Ugur Uygunoglu
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein
Mahesh Kamate, Thanuja Basavanagowda
Opsoclonus-Myoclonus-Ataxia Syndrome Due to Covid-19
Michael Adamaszek, Soenke Langner, Jan Mehrholz, Alexander Heiinrich
A Case of Anti-Ma2 Encephalitis Presenting with Pendular Torsional Nystagmus
Gloria Vaghi, Elisa Vegezzi, Paola Bini, Matteo Gastaldi, Luca Diamanti, Enrico Marchioni, Silvia Colnaghi
Bilateral Cerebellar Repetitive Transcranial Magnetic Stimulation for Chronic Ataxia After Hemorrhagic Stroke: a Case Report
Evan Hy Einstein, Juliana Corlier, Cole Matthews, Doan Ngo, Michael K. Leuchter, Cole Citrenbaum, Nikita Vince-Cruz, Bhavna Ramesh, Aaron Slan, Scott A. Wilke, Nathaniel Ginder, Thomas Strouse, Andrew F. Leuchter
Monocular Torsional Oscillopsia in Dentato-olivary Disconnection
Evangelos Anagnostou, Stathis Gerakoulis, Georgios Armenis, Athena Zachou, Georgios Velonakis
One-Year Follow-Up on Essential Tremor Worsening After SARS-CoV-2 Infection: a Series of Two Cases
Davide Costa, Daniele Birreci, Massimiliano Passaretti, Luca Angelini, Donato Colella, Antonio Cannavacciuolo, Giulia Paparella, Alfredo Berardelli, Matteo Bologna