Article
Clinical Neurology
V. Destrebecq, C. Comet, F. Deveylder, N. Alaerts, G. Naeije
Summary: This study aimed to assess the main determinant of cerebellar cognitive affective syndrome (CCAS) in individuals with Friedreich's ataxia (FRDA). The study found that CCAS is highly prevalent in adult individuals with FRDA, and the severity of ataxic motor symptoms is an important factor in predicting CCAS.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Thiago J. R. Rezende, Isaac M. Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A. Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary F. Egan, Sophia L. Goericke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Tobias Lindig, Alberto R. M. Martinez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Ludger Schoels, Joerg B. Schulz, Matthis Synofzik, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Ian H. Harding, Marcondes C. Franca
Summary: This study characterized cervical spinal cord structural damage in a large multisite cohort of Friedreich's ataxia (FRDA) patients. The results showed that FRDA patients had significantly reduced cross-sectional area (CSA) and increased eccentricity in the cervical spinal cord compared to control subjects. The CSA had significant correlations with disease severity, while eccentricity did not. Subgroup analyses revealed abnormal CSA and eccentricity at all disease stages, with CSA appearing to decrease progressively and eccentricity remaining stable over time.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Jennifer Faber, Tamara Schaprian, Koyak Berkan, Kathrin Reetz, Marcondes Cavalcante Franca, Thiago Junqueira Ribeiro Rezende, Jiang Hong, Weihua Liao, Bart Warrenburg, Judith Gaalen, Alexandra Durr, Fanny Mochel, Paola Giunti, Hector Garcia-Moreno, Ludger Schoels, Holger Hengel, Matthis Synofzik, Benjamin Bender, Gulin Oz, James Joers, Jereon J. Vries, Jun-Suk Kang, Dagmar Timmann-Braun, Heike Jacobi, Jon Infante, Richard Joules, Sandro Romanzetti, Jorn Diedrichsen, Matthias Schmid, Robin Wolz, Thomas Klockgether
Summary: The study aimed to quantify regional brain volumes and cervical spinal cord areas in spinocerebellar ataxia type 3 patients using MRI, revealing that tissue loss in the brain and spinal cord starts before ataxia onset in early-stage patients. Pontine volume is identified as a potential imaging biomarker candidate for intervention trials aiming to slow the progression of the disease.
MOVEMENT DISORDERS
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Akifumi Hagiwara, Kotaro Fujimoto, Koji Kamagata, Syo Murata, Ryusuke Irie, Hideyoshi Kaga, Yuki Someya, Christina Andica, Shohei Fujita, Shimpei Kato, Issei Fukunaga, Akihiko Wada, Masaaki Hori, Yoshifumi Tamura, Ryuzo Kawamori, Hirotaka Watada, Shigeki Aoki
Summary: This study used quantitative synthetic MRI to investigate changes in tissue characteristics and volumes of the brain according to age. The reference values obtained for different age groups can help differentiate brain disorders from healthy brains.
INVESTIGATIVE RADIOLOGY
(2021)
Article
Clinical Neurology
Ana Luisa C. C. Hernandez, Thiago J. R. Rezende, Alberto R. M. Martinez, Mariana R. de Brito, Marcondes C. Franca Jr
Summary: This study utilized DTI to evaluate microstructural integrity in spinal cord white matter tracts of FRDA patients, revealing CSA reduction, differences in FA, MD, and RD parameters between patients and healthy controls at various levels. The abnormalities in white matter microstructure were found to correlate with clinical features, suggesting that spinal cord white matter microstructure could serve as a potential neuroimaging biomarker for FRDA.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Gilbert Thomas-Black, Daniel R. Altmann, Harry Crook, Nita Solanky, Ferran Prados Carrasco, Marco Battiston, Francesco Grussu, Marios C. Yiannakas, Baris Kanber, Jasleen K. Jolly, Jon Brett, Susan M. Downes, Marni Moran, Ping K. Chan, Emmanuel Adewunmi, Claudia A. M. Gandini Wheeler-Kingshott, Andrea H. Nemeth, Richard Festenstein, Fion Bremner, Paola Giunti
Summary: This study comprehensively evaluated the degeneration of the retina in FRDA patients and found heterogeneity in different retinal sectors. The thickness of the retinal nerve fiber layer was associated with frataxin levels. These findings have implications for future clinical trial design.
MOVEMENT DISORDERS
(2023)
Article
Neurosciences
Dominik Jaeschke, Katharina M. Steiner, Dae-In Chang, Jens Claassen, Ellen Uslar, Andreas Thieme, Marcus Gerwig, Viktor Pfaffenrot, Thomas Hulst, Alexander Gussew, Stefan Maderwald, Sophia L. Goericke, Martina Minnerop, Mark E. Ladd, Jurgen R. Reichenbach, Dagmar Timmann, Andreas Deistung
Summary: This study used magnetic resonance imaging (MRI) to investigate the impact of aging on the cerebellar nuclei and cortex. The findings were compared with patients suffering from spinocerebellar ataxia type 6 (SCA6). Additional MRI scans were conducted on a subset of patients and controls after one year. The conversion of T2 *-weighted phase images to quantitative susceptibility maps (QSM) allowed for the detection of changes in iron content in the cerebellar nuclei.
Review
Clinical Neurology
Rong Tang, Jia Liang, Yuanfang Li, Tingting Wu, Yuhao Zhang, Yu Ma, Xu Liu
Summary: Ornidazole-induced encephalopathy (OIE) is rare in clinical practice, but symptoms can be alleviated or disappear after drug withdrawal. Research shows that lesions in the cerebellum, corpus callosum, and brainstem can be reversible.
FRONTIERS IN NEUROLOGY
(2021)
Review
Neurosciences
Beata Monfort, Kristian Want, Sylvain Gervason, Benoit D'Autreaux
Summary: Friedreich's ataxia (FRDA) is a prevalent autosomic recessive ataxia that is associated with severe cardiac hypertrophy and less commonly, diabetes. It is caused by mutations in the gene encoding frataxin, a mitochondrial protein involved in iron metabolism. Recent discoveries suggest that frataxin functions as an accelerator in the biosynthesis of Fe-S clusters, which may have implications for the development of therapeutic treatments for FRDA.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Neurosciences
Nikkita Khattar, Curtis Triebswetter, Matthew Kiely, Luigi Ferrucci, Susan M. Resnick, Richard G. Spencer, Mustapha Bouhrara
Summary: The study found that increased iron content in the brain is associated with decreased myelin content, with iron content significantly higher in most structures with advanced age, and a trend towards higher iron content in men compared to women. Brain myelination continues until middle age, followed by degeneration at older ages.
Article
Neurosciences
Fulvia Palesi, Matteo Ferrante, Marta Gaviraghi, Anastasia Misiti, Giovanni Savini, Alessandro Lascialfari, Egidio D'Angelo, Claudia A. M. Gandini Wheeler-Kingshott
Summary: This study identified the topography of human dentate nuclei using multimodal MRI approaches, defining motor and higher-order function regions. Results showed that over half of the dentate nuclei volume is involved in non-motor functions, with connectivity-based and microstructure-based atlases providing complementary information.
HUMAN BRAIN MAPPING
(2021)
Article
Cardiac & Cardiovascular Systems
Lise Legrand, Jonathan W. Weinsaft, Francoise Pousset, Claire Ewenczyk, Perrine Charles, Stephane Hatem, Anna Heinzmann, Marie Biet, Alexandra Durr, Alban Redheuil
Summary: This study characterized the cardiac phenotype associated with Friedreich's ataxia and assessed the evolution of the associated cardiopathy over one year. Patients with Friedreich's ataxia exhibited left ventricular hypertrophy, concentric left ventricular remodeling, and altered left ventricular diastolic filling. Additionally, they had higher levels of high-sensitivity troponin T. The neurological severity score increased slightly over one year.
ARCHIVES OF CARDIOVASCULAR DISEASES
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Chunmei Li, Yuhui Chen, Pu-Yeh Wu, Bing Wu, Tao Gong, Hua Wang, Min Chen
Summary: In frailty, brain volumetry and relaxometry signatures showed strong associations with the EFS and some EFS domain scores. These associations may reveal the possible underlying pathophysiology of the EFS and different domains of the EFS.
QUANTITATIVE IMAGING IN MEDICINE AND SURGERY
(2021)
Article
Neurosciences
Livia Leite Goes Gitai, Manoel Alves Sobreira-Neto, Paula Rejane Beserra Diniz, Alan Luiz Eckeli, Regina Maria Franca Fernandes, Wilson Marques Jr, Antonio Carlos Santos
Summary: This study used MRI techniques to investigate brain changes in SCA3/MJD patients, revealing structural changes in the cerebellum and brainstem, as well as microstructural changes in the medulla oblongata and pontine tegmentum. These findings are consistent with pathological studies.
Article
Clinical Neurology
Simon Blyau, Ismail Koubiyr, Manojkumar Saranathan, Pierrick Coupe, Mathilde Deloire, Julie Charre-Morin, Aurore Saubusse, Bei Zhang, Brian Rutt, Vincent Dousset, Bruno Brochet, Aurelie Ruet, Thomas Tourdias
Summary: This study investigated the differential vulnerability of thalamic nuclei in multiple sclerosis (MS). The results showed that the thalamic nuclei closest to the third ventricle were more affected and had implications for cognitive function.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Clinical Neurology
Tim W. Rattay, Maximilian Voelker, Maren Rautenberg, Christoph Kessler, Isabel Wurster, Natalie Winter, Tobias B. Haack, Tobias Lindig, Holger Hengel, Matthis Synofzik, Rebecca Schule, Peter Martus, Ludger Schoels
Summary: This study explores early changes in the most common subtype of hereditary spastic paraplegia, SPG4, and identifies subclinical markers of disease activity in the prodromal stage. The findings suggest that certain clinical signs, such as increased reflexes and muscle weakness, may be more frequent in individuals who carry the genetic mutation associated with SPG4.
Article
Neuroimaging
Hanna Styczen, Volker Maus, Lukas Goertz, Martin Koehrmann, Christoph Kleinschnitz, Sebastian Fischer, Markus Moehlenbruch, Iris Muehlen, Bernd Kallmuenzer, Franziska Dorn, Asadeh Lakghomi, Matthias Gawlitza, Daniel Kaiser, Joachim Klisch, Donald Lobsien, Stefan Rohde, Gisa Ellrichmann, Daniel Behme, Maximilian Thormann, Fabian Flottmann, Laurens Winkelmeier, Elke R. Gizewski, Lukas Mayer-Suess, Tobias Boeckh-Behrens, Isabelle Riederer, Randolf Klingebiel, Bjoern Berger, Martin Schlunz-Hendann, Dominik Grieb, Ali Khanafer, Richard du Mesnil de Rochemont, Christophe Arendt, Jens Altenbernd, Jan-Ulrich Schlump, Adrian Ringelstein, Vivian Jean Marcel Sanio, Christian Loehr, Agnes Maria Dahlke, Carolin Brockmann, Sebastian Reder, Ulrich Sure, Yan Li, Ruben Muehl-Benninghaus, Thomas Rodt, Kai Kallenberg, Alexandru Durutya, Mohamed Elsharkawy, Paul Stracke, Mathias Gerhard Schumann, Alexander Bock, Omid Nikoubashman, Martin Wiesmann, Hans Henkes, Pascal J. Mosimann, Rene Chapot, Michael Forsting, Cornelius Deuschl
Summary: There is limited data on the frequency and outcome of mechanical thrombectomy (MT) for large vessel occlusion (LVO) in COVID-19 patients. Our multicenter study found that most cases of LVO treated with MT in COVID-19 patients were due to cardioembolic events. While successful reperfusion was achieved in the majority of cases, there was a significant rate of procedure-related complications and poor clinical outcomes, with a high mortality rate.
JOURNAL OF NEUROINTERVENTIONAL SURGERY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Vincent Beliveau, Christoph Birkl, Ambra Stefani, Elke R. Gizewski, Christoph Scherfler
Summary: The purpose of this study was to accurately predict susceptibility from homodyne-filtered phase images using convolutional neural networks. The results showed that the U-Net model provided more accurate voxel-wise predictions of susceptibility, while the HFP-QSMGAN model had stronger correlations with TGV-QSM in terms of regional estimates of susceptibility.
MAGNETIC RESONANCE IN MEDICINE
(2022)
Article
Clinical Neurology
Andrea Quattrone, Maria G. Bianco, Angelo Antonini, David E. Vaillancourt, Klaus Seppi, Roberto Ceravolo, Antonio P. Strafella, Gioacchino Tedeschi, Alessandro Tessitore, Roberto Cilia, Maurizio Morelli, Salvatore Nigro, Basilio Vescio, Pier Paolo Arcuri, Rosa De Micco, Mario Cirillo, Luca Weis, Eleonora Fiorenzato, Roberta Biundo, Roxana G. Burciu, Florian Krismer, Nikolaus R. McFarland, Christoph Mueller, Elke R. Gizewski, Mirco Cosottini, Eleonora Del Prete, Sonia Mazzucchi, Aldo Quattrone
Summary: This study developed an automated Magnetic Resonance Parkinsonism Index 2.0 (MRPI 2.0) algorithm to differentiate progressive supranuclear palsy-parkinsonism (PSP-P) from Parkinson's disease (PD) and validated its diagnostic performance in two large independent cohorts. The automated MRPI 2.0 showed excellent performance in distinguishing PSP-P from PD and control subjects in both cohorts, suggesting its generalizability. The use of the automated MRPI 2.0 algorithm could standardize measures in patients with PSP-P across centers and have a positive impact on multicenter studies and clinical trials.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Stephanie Alice Treichl, Wing Mann Ho, Ruth Steiger, Astrid Ellen Grams, Andreas Rietzler, Markus Luger, Elke Ruth Gizewski, Claudius Thome, Ondra Petr
Summary: This pilot study evaluated the feasibility and diagnostic potential of early 31P-MRS in patients with aneurysmal subarachnoid hemorrhage (aSAH). The results showed that 31P-MRS can detect significant changes in cerebral energy metabolism in different cerebrovascular territories, providing valuable information for understanding early brain injury.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunit, Hector Garcia-Moreno, Nita Solanky, Thomas Klockgether, Kathrin Reetz, Bart P. van de Warrenburg, Magda M. Santana, Patrick Silva, Ines Cunha, Luis Pereira de Almeida, Dagmar Timmann, Jon Infante, Jeroen de Vries, Manuela Lima, Paula Pires, Khalaf Bushara, Heike Jacobi, Chiadi Onyike, Jeremy D. Schmahmann, Jeannette Hubener-Schmid, Matthis Synofzik, Ludger Schoels
Summary: This study reveals that non-motor symptoms such as sleep disturbance, restless legs syndrome, mild cognitive impairment, depression, bladder dysfunction, and pallhypesthesia are common among SCA3 patients and are significantly associated with disease severity and daily activities. Lifestyle factors like alcohol consumption, smoking, and physical activity may also be related to non-motor symptoms.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Thiago J. R. Rezende, Isaac M. Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A. Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary F. Egan, Sophia L. Goericke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Tobias Lindig, Alberto R. M. Martinez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Ludger Schoels, Joerg B. Schulz, Matthis Synofzik, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Ian H. Harding, Marcondes C. Franca
Summary: This study characterized cervical spinal cord structural damage in a large multisite cohort of Friedreich's ataxia (FRDA) patients. The results showed that FRDA patients had significantly reduced cross-sectional area (CSA) and increased eccentricity in the cervical spinal cord compared to control subjects. The CSA had significant correlations with disease severity, while eccentricity did not. Subgroup analyses revealed abnormal CSA and eccentricity at all disease stages, with CSA appearing to decrease progressively and eccentricity remaining stable over time.
MOVEMENT DISORDERS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Rafael Heiss, Marc-Andre Weber, Eva Balbach, Rainer Schmitt, Christoph Rehnitz, Azien Laqmani, Andreas Sternberg, Jutta J. Ellermann, Armin M. Nagel, Mark E. Ladd, Matthias Englbrecht, Andreas Arkudas, Raymund Horch, Ali Guermazi, Michael Uder, Frank W. Roemer
Summary: This study compared the subjective image quality of 3T and 7T ultrahigh-field-strength wrist MRI and found that 7T MRI had potential advantages in cartilage assessment, while 3T MRI was superior in evaluating the triangular fibrocartilage complex and wrist ligaments.
Article
Oncology
Valentin Karl Ladenhauf, Malik Galijasevic, Johannes Kerschbaumer, Christian Franz Freyschlag, Martha Nowosielski, Anna Maria Birkl-Toeglhofer, Johannes Haybaeck, Elke Ruth Gizewski, Stephanie Mangesius, Astrid Ellen Grams
Summary: MGMT-methylated glioblastomas have lower ADC values compared to glioblastomas without MGMT methylation in peritumoral white matter. There were no differences in enhancing tumor areas. These findings could improve predictions of MGMT status in glioblastomas.
Article
Oncology
Sarah Iglseder, Anna Iglseder, Vincent Beliveau, Johanna Heugenhauser, Elke R. Gizewski, Johannes Kerschbaumer, Guenther Stockhammer, Christian Uprimny, Irene Virgolini, Jozsef Dudas, Meinhard Nevinny-Stickel, Martha Nowosielski, Christoph Scherfler
Summary: This retrospective study aimed to analyze the correlation between somatostatin receptor subtypes (SSTR 1-5) and maximum standardized uptake value (SUVmax) in meningioma patients using Gallium-68 DOTA-D-Phe1-Tyr3-octreotide Positron Emission Tomography ([68Ga]Ga-DOTATOC PET). The study also developed a radiomic model based on apparent diffusion coefficient (ADC) maps derived from diffusion weighted magnetic resonance images (DWI MRI) to reproduce SUVmax. Results showed that SSTR subtypes 2A, 2B, and 5 correlated significantly with SUVmax in meningioma patients.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Medicine, General & Internal
Martin Bendszus, Jens Fiehler, Fabien Subtil, Susanne Bonekamp, Anne Hege Aamodt, Blanca Fuentes, Elke R. Gizewski, Michael D. Hill, Antonin Krajina, Laurent Pierot, Claus Z. Simonsen, Kamil Zelenak, Rolf A. Blauenfeldt, Bastian Cheng, Angelique Denis, Hannes Deutschmann, Franziska Dorn, Fabian Flottmann, Susanne Gellissen, Johannes C. Gerber, Mayank Goyal, Jozef Haring, Christian Herweh, Silke Hopf-Jensen, Vi Tuan Hua, Maerit Jensen, Andreas Kastrup, Christiane Fee Keil, Andrej Klepanec, Egon Kurca, Ronni Mikkelsen, Markus Moehlenbruch, Stefan Mueller-Huelsbeck, Nico Muennich, Paolo Pagano, Panagiotis Papanagiotou, Gabor C. Petzold, Mirko Pham, Volker Puetz, Jan Raupach, Gernot Reimann, Peter Arthur Ringleb, Maximilian Schell, Eckhard Schlemm, Silvia Schoenenberger, Bjorn Tennoe, Christian Ulfert, Katerina Valis, Eva Vitkova, Dominik F. Vollherbst, Wolfgang Wick, Goetz Thomalla
Summary: Endovascular thrombectomy is associated with improved functional outcome and lower mortality in patients with acute ischemic stroke from large vessel occlusion using non-contrast CT as the primary imaging modality for patient selection.
Article
Pediatrics
Maria Sappler, Nina Volleritsch, Marlene Hammerl, Yasmin Pellkofer, Elke Griesmaier, Elke Ruth Gizewski, Susanne Kaser, Ursula Kiechl-Kohlendorfer, Vera Neubauer
Summary: This study found that there was no impairment of brain development in GDM-exposed preterm infants compared to matched controls, but there were differences in white matter microstructure in specific regions indicating an enhanced maturation. However, neurodevelopmental outcome did not differ between the groups.
Review
Radiology, Nuclear Medicine & Medical Imaging
Mark E. Ladd, Harald H. Quick, Oliver Speck, Michael Bock, Arnd Doerfler, Michael Forsting, Juergen Hennig, Bernd Ittermann, Harald E. Moeller, Armin M. Nagel, Thoralf Niendorf, Stefan Remy, Tobias Schaeffter, Klaus Scheffler, Heinz-Peter Schlemmer, Sebastian Schmitter, Laura Schreiber, N. Jon Shah, Tony Stoecker, Michael Uder, Arno Villringer, Nikolaus Weiskopf, Moritz Zaiss, Maxim Zaitsev
Summary: Multiple sites in Germany operate human MRI systems at 7 Tesla or 9.4 Tesla. The German Ultrahigh Field Imaging (GUFI) network was established in 2013 to facilitate research cooperation and make this technology available to a larger community of researchers and clinicians worldwide. This paper summarizes the history, current status, motivation, and challenges of pursuing MRI at higher magnetic field strengths, focusing on the perspective in Germany.
MAGNETIC RESONANCE MATERIALS IN PHYSICS BIOLOGY AND MEDICINE
(2023)
Correction
Clinical Neurology
Holger Hengel, Peter Martus, Jennifer Faber, Paola Giunti, Hector Garcia-Moreno, Nita Solanky, Thomas Klockgether, Kathrin Reetz, Bart P. van de Warrenburg, Magda M. Santana, Patrick Silva, Ines Cunha, Luis Pereira de Almeida, Dagmar Timmann, Jon Infante, Jeroen de Vries, Manuela Lima, Paula Pires, Khalaf Bushara, Heike Jacobi, Chiadi Onyike, Jeremy D. Schmahmann, Jeannette Huebener-Schmid, Matthis Synofzik, Ludger Schoels
JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Maresa Buchholz, Niklas Weber, Anika Raedke, Jennifer Faber, Tanja Schmitz-Huebsch, Heike Jacobi, Feng Xie, Thomas Klockgether, Bernhard Michalowsky
Summary: The study confirmed an acceptable, reliable, valid, and responsive EQ-5D-3L in SCA patients, measuring HRQoL adequately, besides well-established clinical instruments.
