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MRI evidence of olfactory system alterations in patients with COVID-19 and neurological symptoms
Serena Capelli, Anna Caroli, Antonino Barletta, Alberto Arrigoni, Angela Napolitano, Giulio Pezzetti, Luca Giovanni Longhi, Rosalia Zangari, Ferdinando Luca Lorini, Maria Sessa, Andrea Remuzzi & Simonetta Gerevini
doi : 10.1007/s00415-023-11561-0
Volume 270, issue 3, March 2023
Despite olfactory disorders being among the most common neurological complications of coronavirus disease 2019 (COVID-19), their pathogenesis has not been fully elucidated yet.
Vasculitic flare in a patient with anti-myelin-associated glycoprotein (MAG) antibody following mRNA-1273 SARS-CoV-2 vaccine
Chiara Briani, Sergio Ferrari, Matteo Tagliapietra, Livio Trentin & Andrea Visentin
Persistent hiccups as main COVID-19 manifestation with transient cytotoxic lesion of the corpus callosum splenium during the Omicron wave in the post-vaccination era
Celeste Sassi, Emel Mehmed, Amir Alkhatib, Mario Alberto Forero-Padilla, Dragan S. Goranov, Sylvia Habermann, Sven Rekow, Albert Grüger & Hans-Michael Schmitt
Multidomain cognitive impairment in non-hospitalized patients with the post-COVID-19 syndrome: results from a prospective monocentric cohort
Ann-Katrin Schild, Yasemin Goereci, Daniel Scharfenberg, Kim Klein, Joachim Lülling, Dix Meiberth, Finja Schweitzer, Sophie Stürmer, Philip Zeyen, Derya Sahin, Gereon R. Fink, Frank Jessen, Christiana Franke, Oezguer A. Onur, Josef Kessler, Clemens Warnke & Franziska Maier
doi : 10.1007/s00415-022-11444-w
A fraction of patients with asymptomatic to mild/moderate acute COVID-19 disease report cognitive deficits as part of the post-COVID-19 syndrome. This study aimed to assess the neuropsychological profile of these patients.
A rare case of a wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome in a patient with cutaneous lupus erythematosus after COVID-19 infection
Massimo Barbagallo, Dominik Straumann, Enrico Binaghi & Anton Schmick
Gene mutations in comorbidity of epilepsy and arrhythmia
Cheng Yu, Xue-jun Deng & Da Xu
doi : 10.1007/s00415-022-11430-2
Epilepsy is one of the most common neurological disorders, and sudden unexpected death in epilepsy (SUDEP) is the most severe outcome of refractory epilepsy. Arrhythmia is one of the heterogeneous factors in the pathophysiological mechanism of SUDEP with a high incidence in patients with refractory epilepsy, increasing the risk of premature death.
Clinical differences between menstrual migraine and nonmenstrual migraine: a systematic review and meta-analysis of observational studies
Miao Wang, Guoliang Zhu, Zhenyu Song & Fanyi Kong
Optical coherence tomography (OCT) measurements and cognitive performance in multiple sclerosis: a systematic review and meta-analysis
Omid Mirmosayyeb, Robert Zivadinov, Bianca Weinstock-Guttman, Ralph H. B. Benedict & Dejan Jakimovski
Present and future of the diagnostic work-up of multiple sclerosis: the imaging perspective
Massimo Filippi, Paolo Preziosa, Douglas L. Arnold, Frederik Barkhof, Daniel M. Harrison, Pietro Maggi, Caterina Mainero, Xavier Montalban, Elia Sechi, Brian G. Weinshenker & Maria A. Rocca
doi : 10.1007/s00415-022-11488-y
In recent years, the use of magnetic resonance imaging (MRI) for the diagnostic work-up of multiple sclerosis (MS) has evolved considerably. The 2017 McDonald criteria show high sensitivity and accuracy in predicting a second clinical attack in patients with a typical clinically isolated syndrome and allow an earlier diagnosis of MS.
Conceptualization, use, and outcomes associated with compassion in the care of people with multiple sclerosis: a scoping review
Robert Simpson, Stephanie Posa, Tania Bruno, Sharon Simpson, Marina B. Wasilewski, Lawrence R. Robinson, Sarah Munce, Mark Bayley & Anthony Feinstein
doi : 10.1007/s00415-022-11497-x
Compassion is widely regarded as an important component of high-quality healthcare. However, its conceptualization, use, and associated outcomes in the care of people with multiple sclerosis (PwMS) have not been synthesized.
Towards clinical application of implantable brain–computer interfaces for people with late-stage ALS: medical and ethical considerations
Mariska J. Vansteensel, Eran Klein, Ghislaine van Thiel, Michael Gaytant, Zachary Simmons, Jonathan R. Wolpaw & Theresa M. Vaughan
doi : 10.1007/s00415-022-11464-6
Individuals with amyotrophic lateral sclerosis (ALS) frequently develop speech and communication problems in the course of their disease. Currently available augmentative and alternative communication technologies do not present a solution for many people with advanced ALS, because these devices depend on residual and reliable motor activity.
Historical and current issues in HIV encephalitis, and the role of neuropathology in HIV disease: a pathological perspective
Sebastian LucasÂ
doi : 10.1007/s00415-022-11503-2
In the 1980s, after the HIV pandemic was recognised, neuropathology identified cerebral white matter lesions that were found in the brains of infected persons with a severe irreversible dementia syndrome, this became known as ‘HIV encephalitis’. Subsequent work in Europe and north America found subtle morphological abnormalities in cerebral neurones and their connections.
Toll-like receptors and NLRP3 inflammasome-dependent pathways in Parkinson’s disease: mechanisms and therapeutic implications
Luca Soraci, Maria Elsa Gambuzza, Leonardo Biscetti, Pasqualina Laganà , Carmela Lo Russo, Annamaria Buda, Giada Barresi, Andrea Corsonello, Fabrizia Lattanzio, Giuseppe Lorello, Gianfranco Filippelli & Silvia Marino
doi : 10.1007/s00415-022-11491-3
Parkinson’s disease (PD) is a chronic progressive neurodegenerative disorder characterized by motor and non-motor disturbances as a result of a complex and not fully understood pathogenesis, probably including neuroinflammation, oxidative stress, and formation of alpha-synuclein (α-syn) aggregates.
Restless legs syndrome and cognitive function among adults: a systematic review and meta-analysis
Shichan Wang, Xiaoting Zheng, Jingxuan Huang, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Chunyu Li & Huifang Shang
doi : 10.1007/s00415-022-11484-2
Changes in the cognitive function of patients with restless legs syndrome is a growing area of research. Although several studies have been performed to investigate the association between restless legs syndrome (RLS) and cognitive function, the outcomes are still controversial.
Adaptive deep brain stimulation for Parkinson’s disease: looking back at the past decade on motor outcomes
Qi An, Zixiao Yin, Ruoyu Ma, Houyou Fan, Yichen Xu, Yifei Gan, Yuan Gao, Fangang Meng, Anchao Yang, Yin Jiang, Guanyu Zhu & Jianguo Zhang
doi : 10.1007/s00415-022-11495-z
Adaptive deep brain stimulation (aDBS) has been reported to be an effective treatment for motor symptoms in patients with Parkinson’s disease (PD). However, it remains unclear whether and in which motor domain aDBS provides greater/less benefits than conventional DBS (cDBS).
Treadmill training with virtual reality to enhance gait and cognitive function among people with multiple sclerosis: a randomized controlled trial
Irina Galperin, Anat Mirelman, Tanja Schmitz-Hübsch, Katherine L. Hsieh, Keren Regev, Arnon Karni, Marina Brozgol, Pablo Cornejo Thumm, Sharon G. Lynch, Friedemann Paul, Hannes Devos, Jacob Sosnoff & Jeffrey M. Hausdorff
doi : 10.1007/s00415-022-11469-1
Motor and cognitive impairments impact the everyday functioning of people with MS (pwMS). The present randomized controlled trial (RCT) evaluated the benefits of a combined motor–cognitive virtual reality training program on key motor and cognitive symptoms and related outcomes in pwMS.
Neuronal networks underlying ictal and subclinical discharges in childhood absence epilepsy
Ami Kumar, Ekaterina Lyzhko, Laith Hamid, Anand Srivastav, Ulrich Stephani & Natia Japaridze
doi : 10.1007/s00415-022-11462-8
Childhood absence epilepsy (CAE), involves 3 Hz generalized spikes and waves discharges (GSWDs) on the electroencephalogram (EEG), associated with ictal discharges (seizures) with clinical symptoms and impairment of consciousness and subclinical discharges without any objective clinical symptoms or impairment of consciousness.
Neurofilament light chains in serum as biomarkers of axonal damage in early MS lesions: a histological–serological correlative study
Anne-Sophie Dietmann, Niels Kruse, Lidia Stork, Mareike Gloth, Wolfgang Brück & Imke Metz
doi : 10.1007/s00415-022-11468-2
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease associated with axonal injury, and neurofilament light chains in serum (sNfL) are considered a biomarker for this damage.
Assessment of cognitive function, structural brain changes and fatigue 6Â months after treatment of neuroborreliosis
Silje Andreassen, Elisabeth Margrete Stokke Lindland, Mona Kristiansen Beyer, Anne Marit Solheim, Unn Ljøstad, Åse Mygland, Åslaug Rudjord Lorentzen, Harald Reiso, Knut Jørgen Bjuland, Are Hugo Pripp, Hanne Flinstad Harbo, Gro Christine Christensen Løhaugen & Randi Eikeland
doi : 10.1007/s00415-022-11463-7
Complete recovery after adequately treated neuroborreliosis is common, but studies report that some patients experience persistent symptoms like self-reported cognitive problems and fatigue.
Longitudinal study of multi-parameter quantitative magnetic resonance imaging in Duchenne muscular dystrophy: hyperresponsiveness of gluteus maximus and detection of subclinical disease progression in functionally stable patients
Fei Peng, Huayan Xu, Yu Song, Ke Xu, Shuhao Li, Xiaotang Cai, Yingkun Guo & Lianggeng Gong
doi : 10.1007/s00415-022-11470-8
To describe the disease progression of Duchenne muscular dystrophy (DMD) in the pelvic and thigh muscles over 1-year using multiple-parameter quantitative magnetic resonance imaging (qMRI), and to determine the most responsive muscle and predict subclinical disease progression in functionally stable patients.
Italian version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS): validation and longitudinal performance
Andrea Fortuna, Daniele Sabbatini, Annachiara Frigo, Luca Bello, Francesca Calvi, Lorenzo Blasi, Giulia Gianferrari, Ilaria Martinelli, Giacomo Minicuci, Elena Pegoraro, Jessica Mandrioli & Gianni Sorarù
doi : 10.1007/s00415-022-11483-3
To validate an Italian version of the Rasch-Built Overall ALS Disability Scale (ROADS) in a broad population of patients and assess its longitudinal performance over time.
Anti-titin antibodies are associated with myocarditis in patients with myasthenia gravis
Sohyeon Kim, Ki Hoon Kim, Hye Yoon Chung, Hyung Jun Park, Young-Chul Choi, Ha Young Shin & Seung Woo Kim
doi : 10.1007/s00415-022-11485-1
Myasthenia gravis (MG) can affect cardiac muscles with variable presentations. Myocarditis is a rare but potentially serious cardiac manifestation of MG. Although thymomas and anti-titin antibodies have been suggested as risk factors for myocarditis in patients with MG, their independent influence on myocarditis has rarely been assessed.
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales
Kiran Samra, Amy M. MacDougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M. Cash, Caroline V. Greaves, Rhian S. Convery, John C. van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, the Genetic FTD Initiative (GENFI)
doi : 10.1007/s00415-022-11442-y
To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD).
Clinical pitfalls and serological diagnostics of MuSK myasthenia gravis
Young Nam Kwon, Mark Woodhall, Jung-Joon Sung, Kwang-Kuk Kim, Young-Min Lim, Hyunjin Kim, Jee-Eun Kim, Seol-Hee Baek, Byung-Jo Kim, Jin-Sung Park, Hung Youl Seok, Dae-Seong Kim, Ohyun Kwon, Kee Hong Park, Eunhee Sohn, Jong Seok Bae, Byung-Nam Yoon, Nam-Hee Kim, Suk-Won Ahn, Kyomin Choi, Jeeyoung Oh, Hyung Jun Park, Kyong Jin Shin, Sanggon Lee, …Yoon-Ho Hong
doi : 10.1007/s00415-022-11458-4
We aimed to evaluate the diagnostic accuracy of enzyme-linked immunosorbent assay (ELISA) for anti-muscle specific tyrosine kinase (MuSK) antibody (Ab) in a large cohort of anti-acetylcholine receptor (AChR) Ab-negative generalized myasthenia gravis (MG), and also to investigate clinical contexts for the diagnosis of MuSK MG.
Identification of hub proteins in cerebrospinal fluid as potential biomarkers of Alzheimer’s disease by integrated bioinformatics
Yang Li, Zuolong Chen, Qiong Wang, Xinyi Lv, Zhaozhao Cheng, Yan Wu, Fang Tang, Yong Shen & Feng Gao
doi : 10.1007/s00415-022-11476-2
Alzheimer’s disease (AD) is a heterogeneous neurodegenerative disease with complex pathophysiology. Therefore, the identification of novel effective fluid biomarkers is essential for Alzheimer’s disease diagnosis and drug development.
Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
Johanna Härtl, Julia Hartberger, Silke Wunderlich, Isabell Cordts, Cemsel Bafligil, Marc Sturm, Regeneron Genetics Center, Dominik Westphal, Tobias Haack, Bernhard Hemmer, Benno David Ikenberg & Marcus Deschauer
doi : 10.1007/s00415-022-11401-7
Genetic variants are considered to have a crucial impact on the occurrence of ischemic stroke. In clinical routine, the diagnostic value of next-generation sequencing (NGS) in the medical clarification of acute juvenile stroke has not been investigated so far.
Heterogeneity of persisting symptoms after sport-related concussion (SRC): exploring symptom subtypes and patient subgroups
S. Langdon, E. Goedhart, M. Inklaar, J. Oosterlaan & M. Königs
doi : 10.1007/s00415-022-11448-6
This study aimed to explore the heterogeneity of persisting symptoms after sport-related concussion (SRC). We examined the structure of symptom subtypes within 163 patients with SRC (M = 16.7 weeks post-injury).
Botulinum toxin antibody titres: measurement, interpretation, and practical recommendations
Dirk Dressler, John C. Rothwell, Kailash Bhatia, Bruno Kopp, Hans Bigalke & Fereshte Adib Saberi
doi : 10.1007/s00415-022-11424-0
Botulinum toxin (BT) therapy may be blocked by antibodies (BT-AB) resulting in BT-AB induced therapy failure (ABF). BT-AB may be detected by the mouse lethality assay (MLA), the mouse diaphragm assay (MDA) and the sternocleidomastoid test (SCMT).
MRI spot sign in acute intracerebral hemorrhage: an independent biomarker of hematoma expansion and poor functional outcome
Nefeli Valyraki, Adrien Goujon, Marjorie Mateos, Adrien Lecoeuvre, Augustin Lecler, Igor Raynouard, Candice Sabben, Michael Obadia, Julien Savatovsky & Pierre Seners
doi : 10.1007/s00415-022-11498-w
In acute intracerebral hemorrhage (ICH), the prognostic value of the MRI spot sign on hematoma expansion (HE) and poor functional outcome is poorly known.
Structural and functional magnetic resonance imaging correlates of fatigue and dual-task performance in progressive multiple sclerosis
Paolo Preziosa, Maria A. Rocca, Elisabetta Pagani, Paola Valsasina, Maria Pia Amato, Giampaolo Brichetto, Nicolò Bruschi, Jeremy Chataway, Nancy D. Chiaravalloti, Gary Cutter, Ulrik Dalgas, John DeLuca, Rachel Farrell, Peter Feys, Jennifer Freeman, Matilde Inglese, Alessandro Meani, Cecilia Meza, Robert W. Motl, Amber Salter, Brian M. Sandroff, Anthony Feinstein, Massimo Filippi on behalf of the CogEx Research Team
doi : 10.1007/s00415-022-11486-0
Frontal cortico-subcortical dysfunction may contribute to fatigue and dual-task impairment of walking and cognition in progressive multiple sclerosis (PMS).
Onset and mortality of Parkinson’s disease in relation to type II diabetes
Gianni Pezzoli, Emanuele Cereda, Paolo Amami, Santo Colosimo, Michela Barichella, Giorgio Sacilotto, Anna Zecchinelli, Michela Zini, Valentina Ferri, Carlotta Bolliri, Daniela Calandrella, Maria Grazia Bonelli, Viviana Cereda, Elisa Reali, Serena Caronni, Erica Cassani, Margherita Canesi, Francesca del Sorbo, Paola Soliveri, Luigi Zecca, Catherine Klersy, Roberto Cilia & Ioannis U. Isaias
doi : 10.1007/s00415-022-11496-y
There is growing evidence that Parkinson’s disease and diabetes are partially related diseases; however, the association between the two, and the impact of specific treatments, are still unclear. We evaluated the effect of T2D and antidiabetic treatment on age at PD onset and on all-cause mortality.
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study
Agnès Pérez-Millan, Sergi Borrego-Écija, John C. van Swieten, Lize Jiskoot, Fermin Moreno, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Pietro Tiraboschi, Harro Seelaar, Tobias Langheinrich, Jonathan D. Rohrer, Roser Sala-Llonch, Raquel Sánchez-Valle & The Genetic FTD Initiative, GENFI
doi : 10.1007/s00415-022-11435-x
The C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD) and/or motor neuron disease (MND). Corticospinal degeneration has been described in post-mortem neuropathological studies in these patients, especially in those with MND.
Proximal hyperdense middle cerebral artery sign is associated with increased risk of asymptomatic hemorrhagic transformation after endovascular thrombectomy: a multicenter retrospective study
Zhiming Kang, Lishuo Wu, Dong Sun, Gang Zhou, Xiangbo Wu, Han Qiu, Bin Mei & Junjian Zhang
doi : 10.1007/s00415-022-11500-5
To investigate whether hyperdense middle cerebral artery sign (HMCAS) on pretreatment no-contrast CT (NCCT) is associated with hemorrhagic transformation (HT) after endovascular thrombectomy (EVT).
Diagnostic utility of neurofilament markers for MND is limited in restricted disease phenotype and for differentiation from compressive myeloradiculopathies
Daniel Baumgartner, Radim Mazanec & Jitka Hanzalová
doi : 10.1007/s00415-022-11504-1
Misdiagnosis is frequent in early motor neuron disease (MND), typically compressive radiculopathy, or in patients with restricted MND phenotype.
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia
David R. Lynch, Katherine D. Mathews, Susan Perlman, Theresa Zesiewicz, Sub Subramony, Omid Omidvar, Adam P. Vogel, Ana Krtolica, Nadia Litterman, Lex van der Ploeg, Frederic Heerinckx, Peter Milner & Mark Midei
doi : 10.1007/s00415-022-11501-4
Friedreich ataxia is (FRDA) an autosomal recessive neurodegenerative disorder associated with intrinsic oxidative damage, suggesting that decreasing lipid peroxidation (LPO) might ameliorate disease progression. The present study tested the ability of RT001, a deuterated form of linoleic acid (D2-LA), to alter disease severity in patients with FRDA in a double-blind placebo-controlled trial.
Neural correlates of digital measures shown by structural MRI: a post-hoc analysis of a smartphone-based remote assessment feasibility study in multiple sclerosis
Marco Ganzetti, Jennifer S. Graves, Sven P. Holm, Frank Dondelinger, Luciana Midaglia, Laura Gaetano, Licinio Craveiro, Florian Lipsmeier, Corrado Bernasconi, Xavier Montalban, Stephen L. Hauser & Michael Lindemann
doi : 10.1007/s00415-022-11494-0
A study was undertaken to evaluate remote monitoring via smartphone sensor-based tests in people with multiple sclerosis (PwMS). This analysis aimed to explore regional neural correlates of digital measures derived from these tests.
White matter hyperintensities are an independent predictor of cognitive decline 3 years following first-ever stroke—results from the PROSCIS-B study
Huma Fatima Ali, Lea Fast, Ahmed Khalil, Eberhard Siebert, Thomas Liman, Matthias Endres, Kersten Villringer & Anna Kufner
doi : 10.1007/s00415-022-11481-5
White matter hyperintensities (WMH) are the result of cerebral small vessel disease and may increase the risk of cognitive impairment (CI), recurrent stroke, and depression. We aimed to explore the association between selected cerebrovascular risk factors (CVRF) and WMH load as well as the effect of increased WMH burden on recurrent vascular events, CI, and depression in first-ever ischemic stroke patients.
Vasoconstriction and long-term headache in reversible cerebral vasoconstriction syndrome
Neha Kumar, Sandeep Kumar, Eva Rocha & Vasileios-Arsenios Lioutas
doi : 10.1007/s00415-022-11511-2
Angiographic vasoconstriction in reversible cerebral vasoconstriction syndrome (RCVS) is often undetectable at symptom onset and the diagnosis relies on clinical presentation.
Profile of precipitating factors and its implication in 160 Indian patients with Moyamoya angiopathy
Shambaditya Das, Biman Kanti Ray, Alak Pandit, Ritwik Ghosh, Rolf Diehl, Souvik Dubey & Markus Kraemer
doi : 10.1007/s00415-022-11499-9
Moyamoya angiopathy (MMA) has been known to manifest with myriad of neurological manifestations, often in association with various precipitating factors. This is the first study to systematically analyze the precipitating triggers to neurological symptoms done on the largest cohort of MMA in India.
Diffusion tensor imaging of the brain in Pompe disease
Jan J. A. van den Dorpel, Marjolein H. G. Dremmen, Nadine A. M. E. van der Beek, Dimitris Rizopoulos, Pieter A. van Doorn, Ans T. van der Ploeg, Ryan L. Muetzel & Johanna M. P. van den Hout
doi : 10.1007/s00415-022-11506-z
Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, while brain involvement in late-onset patients is not fully elucidated.
The insula modulates the effects of aerobic training on cardiovascular function and ambulation in multiple sclerosis
Matteo Albergoni, Loredana Storelli, Paolo Preziosa, Maria A. Rocca & Massimo Filippi
doi : 10.1007/s00415-022-11513-0
Impairment of cardiovascular control is common in multiple sclerosis (MS), possibly due to damage of strategic brain regions such as the insula. Aerobic training (AT) targets cardiopulmonary system and may represent a neuroprotective strategy.
Analysis of brain and spinal MRI measures in a common domain to investigate directional neurodegeneration in motor neuron disease
C. Toh, A. Keslake, T. Payne, A. Onwuegbuzie, J. Harding, K. Baster, N. Hoggard, P. J. Shaw, I. D. Wilkinson & T. M. Jenkins
doi : 10.1007/s00415-022-11520-1
Magnetic resonance imaging (MRI) of the brain and cervical spinal cord is often performed in diagnostic evaluation of suspected motor neuron disease/amyotrophic lateral sclerosis (MND/ALS). Analysis of MRI-derived tissue damage metrics in a common domain facilitates group-level inferences on pathophysiology.
SOX1 antibody-related paraneoplastic neurological syndromes: clinical correlates and assessment of laboratory diagnostic techniques
Marco Vabanesi, Anne-Laurie Pinto, Alberto Vogrig, David Goncalves, Véronique Rogemond, Bastien Joubert, Nicole Fabien, Jérôme Honnorat & Sergio Muñiz-Castrillo
doi : 10.1007/s00415-022-11523-y
To describe the clinical associations of SOX1 antibodies (SOX1-Abs), determine the accuracy of various detection techniques, and propose laboratory criteria to identify definite paraneoplastic neurological syndromes (PNS) associated with SOX1-Abs.
Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland
Danielle J. Leighton, Morad Ansari, Judith Newton, David Parry, Elaine Cleary, Shuna Colville, Laura Stephenson, Juan Larraz, Micheala Johnson, Emily Beswick, Michael Wong, Jenna Gregory, Javier Carod Artal, Richard Davenport, Callum Duncan, Ian Morrison, Colin Smith, Robert Swingler, Ian J. Deary, Mary Porteous, Timothy J. Aitman, Siddharthan Chandran, George H. Gorrie, Suvankar Pal, the Lothian Birth Cohorts Group & and the CARE-MND Consortium
doi : 10.1007/s00415-022-11505-0
We investigated the phenotypes and genotypes of a cohort of ‘long-surviving’ individuals with motor neuron disease (MND) to identify potential targets for prognostication.
Generalized vestibular hyporeflexia and chronic upbeat nystagmus due to thiamine deficiency
William Zhu, Kristen K. Steenerson & Jorge C. Kattah
doi : 10.1007/s00415-022-11514-z
Ocular motor and vestibular manifestations of Wernicke’s thiamine deficiency (WTD) are frequent and heterogeneous. Previous neuropathological and neuroimaging findings identified brainstem and cerebellar lesions responsible for these findings, however, peripheral vestibular lesions are probably uncommon in human WTD, though noted on an avian thiamine deficient study.
Effect of robotic tilt table verticalization on recovery in patients with disorders of consciousness: a randomized controlled trial
M. J. Rosenfelder, V. C. Helmschrott, L. Willacker, B. Einhäupl, T. M. Raiser & A. Bender
doi : 10.1007/s00415-022-11508-x
Verticalization is a common therapeutic intervention during rehabilitation of patients with disorders of consciousness (DoC). The Erigo®Pro is a robotic tilt-table (RTT) with built-in stepping unit for the lower extremities to prevent orthostatic hypotension during verticalization.
Cerebellar alterations in Parkinson’s disease with postural instability and gait disorders
Andrea Gardoni, Federica Agosta, Elisabetta Sarasso, Silvia Basaia, Elisa Canu, Michela Leocadi, Veronica Castelnovo, Andrea Tettamanti, Maria Antonietta Volontè & Massimo Filippi
doi : 10.1007/s00415-022-11531-y
Few studies interrogated the involvement of cerebellum in modulating gait in Parkinson’s disease (PD) patients with postural instability and gait disorders (PD-PIGD). This study aimed at assessing cerebellar atrophy and activity alterations during functional MRI (fMRI) gait-simulating motor- and dual-tasks in PD-PIGD.
Congestive myelopathy due to craniocervical junction arteriovenous fistulas mimicking transverse myelitis: a multicenter study on 27 cases
Keisuke Takai, Toshiki Endo, Toshitaka Seki, Tomoo Inoue & the Neurospinal Society of Japan CCJAVF Study Investigators
doi : 10.1007/s00415-022-11536-7
The purpose was to clarify diagnostic clues and pitfalls in cranio-cervical junction arteriovenous fistulas (CCJ AVFs) with congestive myelopathy.
Neurofilament light chain: a promising diagnostic biomarker for functional motor disorders
Alessandro Dinoto, Enrico Marcuzzo, Vanessa Chiodega, Francesco Dall’Ora, Sara Mariotto & Michele Tinazzi
doi : 10.1007/s00415-022-11480-6
Functional motor disorders (FMDs) are disabling neurological conditions characterized by abnormal movements which are inconsistent and incongruent with recognized neurological diseases. Aim of this study is to investigate whether FMDs are related to structural axonal damage.
Use of remote monitoring and integrated platform for the evaluation of sleep quality in adult-onset idiopathic cervical dystonia
Grace A. Bailey, Clare Matthews, Konrad Szewczyk-krolikowski, Peter Moore, Sandra Komarzynski, Elin Haf Davies & Kathryn J. Peall
doi : 10.1007/s00415-022-11490-4
Up to 70% of individuals diagnosed with adult-onset idiopathic focal cervical dystonia (AOIFCD) report difficulties with sleep. Larger cohort studies using wrist-worn accelerometer devices have emerged as an alternative to smaller polysomnography studies, in order to evaluate sleep architecture.
A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity
Nagia Fahmy, Kathrin Müller, Peter Munch Andersen, Stefan L. Marklund, Markus Otto, Albert C. Ludolph & Nabila Hamdi
doi : 10.1007/s00415-022-11489-x
The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We report a novel homozygous SOD1 mutation with decreased enzymatic activity and severe early onset ALS phenotype.
Neuromodulation of the cerebellum: the importance of the assessment of the cerebellar reserve
Mario MantoÂ
Rho GTPase-activating protein 17 (ARHGAP17) as additional autoimmune target in ARHGAP26-IgG/anti-Ca autoantibody-associated autoimmune encephalitis
Sven Jarius, Jürgen Haas & Brigitte Wildemann
Alternating adduction hypertropia as a rare presentation of midbrain hemorrhage
Sung-Hwan Kim, Seol-Hee Baik, Sun-Uk Lee, Hyo-Jung Kim, Sungwook Yu & Ji-Soo Kim
Cerebellopontine angle tumor presenting as vertical strabismus: differentiation of trochlear nerve palsy and skew deviation
So-Yeon Yun, Seonkyung Lee, Min-Ku Kim, Jeong-Yoon Choi & Ji-Soo Kim
Inclusion body myositis: from genetics to clinical trials
Sara Nagy, Alaa Khan, Pedro M. Machado & Henry Houlden
doi : 10.1007/s00415-022-11459-3
Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors.
Clinical and MRI features of gait and balance disorders in neurodegenerative diseases
Elisabetta Sarasso, Massimo Filippi & Federica Agosta
doi : 10.1007/s00415-022-11544-7
Gait and balance disorders are common signs in several neurodegenerative diseases such as Parkinson’s disease, atypical parkinsonism, idiopathic normal pressure hydrocephalus, cerebrovascular disease, dementing disorders and multiple sclerosis.
Fred Plum (1924–2010)
Nara Miriam Michaelson, Nicholas D. Schiff & James L. Bernat
