Ulf Jensen-Kondering, Christoph J. Maurer, Hanna C. B. Brudermann, Marielle Ernst, Sam Sedaghat, Nils G. Margraf, Thomas Bahmer, Olav Jansen, Jawed Nawabi, Estelle Vogt, Laura Büttner, Eberhard Siebert, Michael Bartl, Volker Maus, Gregor Werding, Marc Schlamann, Nuran Abdullayev, Benjamin Bender, Vivien Richter, Annerose Mengel, Siri G?pel, Ansgar Berlis, Astrid Grams, Valentin Ladenhauf, Elke R. Gizewski, Philipp Kindl, Victor Schulze-Zachau, Marios Psychogios, Inke R. K?nig, Stefan Sondermann, S?nke Wallis, Norbert Brüggemann, Peter Schramm & Alexander Neumann
doi : 10.1007/s00415-023-11608-2
Volume 270, issue 5, May 2023
Coronavirus disease 2019 (COVID-19) is an infection which can affect the central nervous system. In this study, we sought to investigate associations between neuroimaging findings with clinical, demographic, blood and cerebrospinal fluid (CSF) parameters, pre-existing conditions and the severity of acute COVID-19.
Rebecca Kerestes, Hannah Cummins, Nellie Georgiou-Karistianis, Louisa P. Selvadurai, Louise A. Corben, Martin B. Delatycki, Gary F. Egan & Ian H. Harding
doi : 10.1007/s00415-023-11637-x
Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease characterised in most cases by progressive and debilitating motor dysfunction. Degeneration of cerebellar white matter pathways have been previously reported, alongside indications of cerebello-cerebral functional alterations.
S. Reyes, A. Jabouley, N. Alili, M. H. De Sanctis, C. Machado, A. Taleb, D. Herve, N. Dias-Gastellier & H. Chabriat
doi : 10.1007/s00415-023-11648-8
COVID-19 restrictive containment was responsible for major psychological distress and alteration of quality of life (QoL) in the general population. Their impact in a group of patients having cerebral small vessel disease (SVD) and at high risk of stroke and disability was unknown.
Pascual Torres, Agust?n Sancho-Salda?a, Anna Gil S?nchez, Silvia Peralta, Maria José Solana, Sofian Bakkioui, Cristina Gonz?lez-Mingot, Laura Quibus, Emilio Ruiz-Fern?ndez, Eduardo San Pedro-Murillo & Luis Brieva
doi : 10.1007/s00415-023-11575-8
Most people with Multiple Sclerosis (pwMS) are subjected to immunomodulatory disease-modifying treatments (DMTs). As a result, immune responses to COVID-19 vaccinations could be compromised. There are few data on cellular immune responses to the use of COVID-19 vaccine boosters in pwMS under a broad spectrum of DMTs.
Mar Ariza, Neus Cano, Bà rbara Segura, Ana Adan, N?ria Bargall?, Xavier Cald?, Anna Campabadal, Maria Angeles Jurado, Maria Matar?, Roser Pueyo, Roser Sala-Llonch, Cristian Barrué, Javier Bejar, Claudio Ulises Cortés on behalf of NAUTILUS Project Collaborative Group, Maite Garolera & Carme Junqué
doi : 10.1007/s00415-023-11587-4
Patients with post-coronavirus disease 2019 (COVID-19) conditions typically experience cognitive problems. Some studies have linked COVID-19 severity with long-term cognitive damage, while others did not observe such associations. This discrepancy can be attributed to methodological and sample variations.
Susanne A. Schneider, Soaham Desai, Onanong Phokaewvarangkul, Elena Cecilia Rosca, Jirada Sringean, Pria Anand, Gary ?lvarez Bravo, Francisco Cardoso, Anna M. Cervantes-Arslanian, Harshad Chovatiya, David Crosiers, Femke Dijkstra, Conor Fearon, Francisco Grandas, Eric Guedj, Antonio Méndez-Guerrero, Muhammad Hassan, Joseph Jankovic, Anthony E. Lang, Karim Makhoul, Lorenzo Muccioli, Sarah A. O’Shea, Vahid Reza Ostovan, Javier Ricardo Perez-Sanchez, Ritesh Ramdhani, Victoria Ros-Castell?, Christina Schulte, Priyank Shah, Lars Wojtecki & Pramod Kumar Pal
doi : 10.1007/s00415-023-11661-x
Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited.
Pearl J. C. van Lonkhuizen, Wiebke Frank, Anne-Wil Heemskerk, Erik van Duijn, Susanne T. de Bot, Alzbeta Mühlb?ck, G. Bernhard Landwehrmeyer, Niels H. Chavannes, Eline Meijer & the HEALTHE-RND consortium
doi : 10.1007/s00415-022-11551-8
Huntington’s disease (HD) is a genetic, neurodegenerative disease. Due to the progressive nature of HD and the absence of a cure, (health-related) quality of life ((HR)QoL) is an important topic. Several studies have investigated (HR)QoL in HD, yet a clear synthesis of the existing literature is lacking to date.
Xiaoting Zheng, Shichan Wang, Jingxuan Huang, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Rui Huang, Chunyu Li & Huifang Shang
doi : 10.1007/s00415-022-11555-4
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with rapid progression and high mortality. Physical activity (PA) has been identified as a major risk factor for ALS. However, the results across studies are still controversial. We aimed to explore the association between different types of PA and ALS.
Jianing Jin, Dongning Su, Junjiao Zhang, Xiaohong Li & Tao Feng
doi : 10.1007/s00415-022-11556-3
To evaluate the difference of tau burden between patients with progressive supranuclear palsy (PSP) and healthy controls (HCs) or other neurodegenerative diseases using tau-positron emission tomography (PET) imaging.
Miaomiao Ma, Yao Li, Shimiao Dai, Ming Chu, Litao Sun, Longjian Liu & Ji-Chang Zhou
doi : 10.1007/s00415-023-11559-8
Charcot–Marie–Tooth disease and related inherited peripheral neuropathies (CMT&RIPNs) brings great suffering and heavy burden to patients, but its global prevalence rates have not been well described.
Sirui Zhang, Yangfan Cheng & Huifang Shang
doi : 10.1007/s00415-023-11572-x
Huntington’s disease is a progressive neurodegenerative disease caused by mutation of the huntingtin (HTT) gene. The identification of mutation carriers before symptom onset provides an opportunity to intervene in the early stage of the disease course.
Okti Ratna Mafruhah, Yen-Ming Huang & Hsiang-Wen Lin
doi : 10.1007/s00415-023-11601-9
Medication adherence is one of the crucial attempts in primary stroke prevention. The available evidence lacks comprehensive reviews exploring the association of medication adherence with stroke prevention.
Okti Ratna Mafruhah, Yen-Ming Huang & Hsiang-Wen Lin
Maximilian U. Friedrich, Erich Schneider, Miriam Buerklein, Johannes Taeger, Johannes Hartig, Jens Volkmann, Robert Peach & Daniel Zeller
doi : 10.1007/s00415-022-11493-1
Eye movement abnormalities are commonplace in neurological disorders. However, unaided eye movement assessments lack granularity. Although videooculography (VOG) improves diagnostic accuracy, resource intensiveness precludes its broad use. To bridge this care gap, we here validate a framework for smartphone video-based nystagmography capitalizing on recent computer vision advances.
Maryam Oskoui, John W. Day, Nicolas Deconinck, Elena S. Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S. Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura & Eugenio Mercuri on behalf of The SUNFISH Working Group
doi : 10.1007/s00415-023-11560-1
Risdiplam is an oral, survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved for the treatment of spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a Phase 3, randomized, double-blind, placebo-controlled study, investigated the efficacy and safety of risdiplam in type 2 and non?ambulant type 3 SMA.
Maryam Oskoui, John W. Day, Nicolas Deconinck, Elena S. Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S. Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura & Eugenio Mercuri on behalf of The SUNFISH Working Group
Kaki Tsang & Richard Walker
doi : 10.1007/s00415-023-11563-y
Parkinson’s disease (PD) is a neurodegenerative movement disorder that is typically diagnosed clinically. DaT-SPECT scanning (DaT Scan) can be used when there is diagnostic difficulty differentiating from non-neurodegenerative Parkinsonism. This study assessed the effect of DaT Scan imaging on diagnosis and subsequent clinical management of these disorders.
Albert Mu?oz-Vendrell, Pablo Arroyo-Pereiro, Isabel Le?n, Laura Bau, Elisabet Matas, Antonio Mart?nez-Yélamos, Sergio Mart?nez-Yélamos & Luc?a Romero-Pinel
doi : 10.1007/s00415-023-11645-x
Natalizumab (NTZ) and ocrelizumab (OCR) can be used for the treatment of relapsing–remitting multiple sclerosis (RRMS). In patients treated with NTZ, screening for JC virus (JCV) is mandatory, and a positive serology usually requires a change in treatment after 2 years. In this study, JCV serology was used as a natural experiment to pseudo-randomize patients into NTZ continuation or OCR.
Xia Wang, Shoujiang You, Zien Zhou, Candice Delcourt, Joanna Wardlaw, Grant Mair, Thompson Robinson, Xiaoying Chen, Sohei Yoshimura, Takako Torii-Yoshimura, Cheryl Carcel, Alejandra Malavera, Craig Anderson & Richard I. Lindley
doi : 10.1007/s00415-023-11580-x
We aimed to assess the association of atrial fibrillation (AF) on outcomes in a post hoc analysis of the ENCHANTED (Enhanced Control of Hypertension and Thrombolysis Stroke Study) and how this association is modified by baseline imaging features.
Feride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, Maike F. Dohrn, Adriana P. Rebelo, Pantelitsa Koutsou, Anthi Georghiou, Pablo Artigas, Stephan L. Züchner, Kleopas A. Kleopa & Kyproula Christodoulou
doi : 10.1007/s00415-023-11581-w
Charcot–Marie–Tooth disease (CMT) is a genetically and clinically heterogeneous group of inherited neuropathies. Monoallelic pathogenic variants in ATP1A1 were associated with axonal and intermediate CMT.
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez & Joseph Jankovic
doi : 10.1007/s00415-023-11583-8
Tourette syndrome (TS) is the most common cause of chronic tics. Patients with TS frequently manifest motor tics involving the eyes and face but oromandibular (OM) tics have been rarely studied.
Cory J. Holdom, Jordi W. J. van Unnik, Ruben P. A. van Eijk, Leonard H. van den Berg, Robert D. Henderson, Shyuan T. Ngo & Frederik J. Steyn
doi : 10.1007/s00415-023-11584-7
Actigraphy has been proposed as a measure for tracking functional decline and disease progression in patients with Motor Neuron Disease (MND). There is, however, little evidence to show that wrist-based actigraphy measures correlate with functional decline, and no consensus on how best to implement actigraphy.
Giovanni Defazio, Daniele Belvisi, Cynthia Comella, Mark Hallett, Hyder A. Jinnah, Paola Cimino, Anna Latorre, Marcello Mario Mascia, Lorenzo Rocchi, Angelo Fabio Gigante, Tommaso Ercoli & Alfredo Berardelli
doi : 10.1007/s00415-023-11585-6
Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia.
Elena Pischik, Katrin Baumann, Alla Karpenko & Raili Kauppinen
doi : 10.1007/s00415-023-11586-5
Acute encephalopathy (AE) can be a manifestation of an acute porphyric attack. Clinical data were studied in 32 patients during AE with or without polyneuropathy (PNP) together with 12 subjects with PNP but no AE, and 17 with dysautonomia solely.
Jessica Roos, Stefanie Müller, Anne Giese, Silke Appenzeller, Erich Bernd Ringelstein, Jens Fiehler, Klaus Berger, Arndt Rolfs, Christian Hagel & Gregor Kuhlenb?umer
doi : 10.1007/s00415-023-11590-9
(1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke patients.
G. Schwarz, B. Kanber, F. Prados, S. Browning, R. Simister, H. R. J?ger, G. Ambler, C. A. M. Gandini Wheeler-Kingshott, D. J. Werring on behalf of the SIGNAL Investigators
doi : 10.1007/s00415-023-11592-7
Small vessel disease (SVD) causes most spontaneous intracerebral haemorrhage (ICH) and is associated with widespread microstructural brain tissue disruption, which can be quantified via diffusion tensor imaging (DTI) metrics: mean diffusivity (MD) and fractional anisotropy (FA).
Yan Qin, Runcheng He, Juan Chen, Xiaoxia Zhou, Xun Zhou, Zhenhua Liu, Qian Xu, Ji-Feng Guo, Xin-Xiang Yan, Nana Jiang, Weihua Liao, Toshiaki Taoka, Dongcui Wang & Beisha Tang
doi : 10.1007/s00415-023-11594-5
Studies of glymphatic dysfunction in Parkinson’s disease (PD) patients have attracted much attention in recent years. However, the relationships between glymphatic dysfunction and clinical symptoms remains unclear.
Umberto Pensato, Giulia Amore, Lorenzo Muccioli, Susanna Sammali, Francesca Rondelli, Rita Rinaldi, Roberto D’Angelo, Marianna Nicodemo, Susanna Mondini, Luisa Sambati, Gian Maria Asioli, Simone Rossi, Rossella Santoro, Lucia Cretella, Susy Ferrari, Luca Spinardi, Luca Faccioli, Stefano Fanti, Andrea Paccagnella, Elisabetta Pierucci, Beatrice Casadei, Cinzia Pellegrini, Pier Luigi Zinzani, Massimiliano Bonafè, Pietro Cortelli, Francesca Bonifazi & Maria Guarino
doi : 10.1007/s00415-023-11595-4
To investigate neurotoxicity clinical and instrumental features, incidence, risk factors, and early and long-term prognosis in lymphoma patients who received CAR T-cell therapy.
Lize C. Jiskoot, Lucy L. Russell, Caroline V. Greaves, Esther van Schaik, Esther van den Berg, Jackie M. Poos, Liset de Boer, Laura Donker Kaat, Harro Seelaar, Yolande A. L. Pijnenburg, John C. van Swieten & Jonathan D. Rohrer
doi : 10.1007/s00415-023-11596-3
Most neuropsychiatric symptoms (NPS) common in frontotemporal dementia (FTD) are currently not part of the Neuropsychiatric Inventory (NPI). We piloted an FTD Module that included eight extra items to be used in conjunction with the NPI.
Yuhui Sha, Yang Ci, Zhuoga Cidan, Yuhua Zhao, Lixin Zhou & Jun Ni
doi : 10.1007/s00415-023-11597-2
Data regarding diagnosis, management, and prognosis of patients with cerebral venous thrombosis (CVT) from high altitude are limited. The aim of the present study is to identify the clinical features, risk factors, and outcomes of cerebral venous thrombosis (CVT) in Tibet.
Yan Zhang, Lili Cui, Weibi Chen, Huijin Huang, Gang Liu, Yingying Su & Johannes Boltze
doi : 10.1007/s00415-023-11599-0
Status dystonicus (SD) is a severe movement disorder (MD) and has rarely been recognized in anti-N-methyl-d-aspartate-acid receptor (NMDAR) encephalitis, particularly in adult patients. We aim to explore the clinical characteristics and outcome of SD in anti-NMDAR encephalitis.
Cristina Smolenschi, Elie Rassy, Johan Pallud, Edouard Dezamis, Razvan Copaciu, Fabrice Parker, Gabriel Garcia, Naima Lezghed, Emeline Colomba, Mohamed Khettab, Sami Ammari, Mohamed Fekhi, Larisa Martanovschi, Lina Benadhou, Steven Knafo, David Guyon, Bianca Cheaib, Frederic Dhermain & Sarah Naomie Dumont
doi : 10.1007/s00415-023-11600-w
Angiogenesis plays a key role in glioblastoma, but most anti-angiogenic therapy trials have failed to change the poor outcome of this disease. Despite this, and because bevacizumab is known to alleviate symptoms, it is used in daily practice. We aimed to assess the real-life benefit in terms of overall survival, time to treatment failure, objective response, and clinical benefit in patients with recurrent glioblastoma treated with bevacizumab.
Margaux Cheval, Marion Houot, Nathalie Chastan, William Szurhaj, Cécile Marchal, Hélène Catenoix, Luc Valton, Martine Gavaret, Bastien Herlin, Arnaud Biraben, Stanislas Lagarde, Laure Mazzola, Lorella Minotti, Louis Maillard & Sophie Dupont
doi : 10.1007/s00415-023-11603-7
Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is usually associated with a poor response to antiseizure medications. We focused on MTLE-HS patients who were seizure free on medication to: (1) determine the clinical factors associated with seizure freedom and (2) develop a machine-learning classifier to better earlier identify those patients.
Ziang Deng, Haoxiang Wang, Keru Huang, Yuanyou Li, Yang Ran, Yaxing Chen & Liangxue Zhou
doi : 10.1007/s00415-023-11604-6
Patients with idiopathic normal pressure hydrocephalus (iNPH) have a higher prevalence of hypertension and diabetes. However, the causal effects of these vascular risk factors on iNPH remain unclear. This study aimed to explore the causal relationship between vascular risk factors (VRFs) and iNPH.
Sara Pietracupa, Daniele Belvisi, Claudia Piervincenzi, Silvia Tommasin, Gabriele Pasqua, Nikolaos Petsas, Maria Ilenia De Bartolo, Andrea Fabbrini, Matteo Costanzo, Nicoletta Manzo, Alfredo Berardelli & Patrizia Pantano
doi : 10.1007/s00415-023-11607-3
This paper aimed to identify white matter (WM) and gray matter (GM) abnormalities in a sample of early PD patients, and their correlations with motor and non-motor symptom severity.
Thanh Tin Nguyen, Jin-Ju Kang, Ju-Hee Chae, Eunsu Lee, Hyo-Jeong Kim, Ji-Soo Kim & Sun-Young Oh
doi : 10.1007/s00415-023-11611-7
As the efficacy of current diagnostic methods for myasthenia gravis (MG) remains suboptimal, there is ongoing interest in developing more effective diagnostic models. As oculomotor fatigability is one of the most common and diagnostic symptoms in MG, we aimed to investigate whether quantitative saccadic and smooth-pursuit fatigability analyses with video-oculography (VOG) are useful for diagnosis of MG.
Nannan Yang, Shushan Sang, Tao Peng, Wentao Hu, Jingtao Wang, Rong Bai & Hong Lu
doi : 10.1007/s00415-023-11612-6
Freezing of gait (FOG) is a common disabling gait disturbance among patients with Parkinson’s disease (PD), but the influence of genetic variants on the incidence of FOG has been poorly studied to date.
Alfonso Fasano, Roc?o Garc?a-Ramos, Tanya Gurevich, Robert Jech, Lars Bergmann, Olga Sanchez-Soli?o, Juan Carlos Parra & Mihaela Simu
doi : 10.1007/s00415-023-11615-3
While immediate benefits of levodopa–carbidopa intestinal gel (LCIG) are evident in patients with Parkinson’s disease (PD), long-term LCIG effects require further study.
Elena Contaldi, Luca Magistrelli, Alessia Furgiuele, Silvia Gallo & Cristoforo Comi
doi : 10.1007/s00415-023-11635-z
Dysregulation of the CD4?+?T cell compartment occurs in Parkinson’s Disease (PD). Nonetheless, the exact relationship with dopamine transporter (DAT) SPECT denervation patterns is currently unknown.
A. J. Clarke, G. Swart, A. R. Clifford, C. Milross, G. M. Halmagyi & J. Spies
Jeremy HornibrookÂ
Evangelos Anagnostou, Georgios Armenis, Athina Zachou & Ioanna Kouzi
Luke Dixon, Matthew Colquhoun, Eleanor Taylor, Francesco Carlucci, Clara Limback-Stanic, Victoria Singh-Curry, Francesca Tona & Taryn Youngstein
Katie Yoganathan, Naveed Malek, Emma Torzillo, Menaka Paranathala & John Greene
doi : 10.1007/s00415-023-11619-z
Structural and functional imaging prior to surgery in drug-resistant focal epilepsy, has an important role to play alongside electroencephalography (EEG) techniques, in planning the surgical approach and predicting post-operative outcome.
B. E. Schroeder, N. P. Robertson & T. A. T. Hughes
Rüdiger Adam & Axel C. Hüntelmann
Alessandro Pasquale De Rosa, Fabrizio Esposito, Paola Valsasina, Alessandro d’Ambrosio, Alvino Bisecco, Maria A. Rocca, Silvia Tommasin, Chiara Marzi, Nicola De Stefano, Marco Battaglini, Patrizia Pantano, Mario Cirillo, Gioacchino Tedeschi, Massimo Filippi, Antonio Gallo & the INNI Network
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