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Key priorities in rare neurological diseases: A statement from the Coordinating Panel on Rare Neurological Diseases of the European Academy of Neurology
Michelangelo Mancuso, Holm Graessner, Marianne de Visser, Anita Arsovska, Kailash Bhatia
doi : 10.1111/ene.15752
Patterns of hemispheric compromise in primary progressive apraxia of speech: From clinical profiling to differential diagnosis
Adolfo M. GarcÃÂa
doi : 10.1111/ene.15766
In this issue of European Journal of Neurology, Robinson et al. present a novel study on primary progressive apraxia of speech. The authors describe different clinicopathological profiles in patients with left-dominant, right-dominant, and bilateral atrophy of the supplementary motor area and lateral premotor cortex.
Effect of the revised definition of epilepsy on treatment decisions and seizure recurrence after a first epileptic seizure
Louise Linka, Benedikt Magnus, Lena Habermehl, Panagiota-Eleni Tsalouchidou, Felix Zahnert, Leona Möeller, Kristina Krause, Susanne Knake, Katja Menzler
doi : 10.1111/ene.15769
Studies on risk factors for epilepsy and seizure recurrence after a first seizure are usually based on the old definition of epilepsy with the need for two unprovoked seizures.
Blood biomarkers in mild cognitive impairment patients: Relationship between analytes and progression to Alzheimer disease dementia
Anuschka Silva-SpÃnola, Marisa Lima, Maria João Leitão, Catarina Bernardes, João Durães, Diana Duro, Miguel Tábuas-Pereira, Isabel Santana, Inês Baldeiras
doi : 10.1111/ene.15762
Blood-based biomarkers are promising tools for the diagnosis of Alzheimer disease (AD) at prodromal stages (mild cognitive impairment [MCI]) and are hoped to be implemented as screening tools for patients with cognitive complaints.
Detecting amyloid-β positivity using regions of interest from structural magnetic resonance imaging
Jeongyoung Hwang, Hee Kyung Park, Hai-jeon Yoon, Jee Hyang Jeong, Hyunju Lee, for the Alzheimer’s Disease Neuroimaging Initiative
doi : 10.1111/ene.15775
Alzheimer disease (AD) is the most common type of dementia. Amyloid-β (Aβ) positivity is the main diagnostic marker for AD. Aβ positron emission tomography and cerebrospinal fluid are widely used in the clinical diagnosis of AD.
Clinical symptoms in mild cognitive impairment with Lewy bodies: Frequency, time of onset, and discriminant ability
Paul C. Donaghy, Calum Hamilton, Rory Durcan, Sarah Lawley, Sally Barker, Joanna Ciafone, Nicola Barnett, Kirsty Olsen, Michael Firbank, Gemma Roberts, Jim Lloyd, Louise M. Allan, Ranjan Saha, Ian G. McKeith, John T. O'Brien, John-Paul Taylor, Alan J. Thomas
doi : 10.1111/ene.15783
Mild cognitive impairment with Lewy bodies (MCI-LB) is associated with a range of cognitive, motor, neuropsychiatric, sleep, autonomic, and visual symptoms.
Respiratory phenotypes in amyotrophic lateral sclerosis as determined by respiratory questions on the Amyotrophic Lateral Sclerosis Functional Rating Scale–Revised and their relation to respiratory tests
Susana Pinto, Miguel Oliveira Santos, Marta Gromicho, Michael Swash, Mamede de Carvalho
doi : 10.1111/ene.15765
Respiratory insufficiency and its complications are the main cause of death in amyotrophic lateral sclerosis (ALS). Respiratory symptoms are scored in questions Q10 (dyspnoea) and Q11 (orthopnoea) of the Amyotrophic Lateral Sclerosis Functional Rating Scale–Revised (ALSFRS-R).
Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis�a cross-sectional multicenter study
Thomas Meyer, Erma Salkic, Torsten Grehl, Ute Weyen, Dagmar Kettemann, Patrick Weydt, René Günther, Paul Lingor, Jan Christoph Koch, Susanne Petri, Andreas Hermann, Johannes Prudlo, Julian Großkreutz, Petra Baum, Matthias Boentert, Moritz Metelmann, Jenny Norden, Isabell Cordts, Jochen H. Weishaupt, Johannes Dorst, Albert Ludolph, Yasemin Koc, Bertram Walter, Christoph Münch, Susanne Spittel, Marie Dreger, André Maier, Péter Körtvélyessy
doi : 10.1111/ene.15773
The objective was to assess the performance of serum neurofilament light chain (sNfL) in amyotrophic lateral sclerosis (ALS) in a wide range of disease courses, in terms of progression, duration and tracheostomy invasive ventilation (TIV).
Evaluation of arterial blood gas parameters as prognostic markers in amyotrophic lateral sclerosis
Hugo Alarcan, Camille Cotet, Nadège Lépine, Julie Morel, Patrick Vourc'h, Christian Andres, Philippe Corcia, Hélène Blasco
doi : 10.1111/ene.15779
Forced vital capacity (FVC) remains difficult to determine for some patients suffering from amyotrophic lateral sclerosis (ALS) due to the rapid progression of the disease. Arterial blood gas (ABG) parameters could represent a valuable alternative.
Iron accumulation and axonal damage of cerebellum in idiopathic cervical dystonia
Hongxia Li, Ming Zhang, Yunhao Wu, Yufei Li, Ruimin Feng, Xiaohui Shen, Yuhan Wang, Xiaoyu Sun, Wenjie Xue, Shengdi Chen, Hongjiang Wei, Yiwen Wu
doi : 10.1111/ene.15754
Postmortem brain study indicated that cerebellar Purkinje cell (PC) loss might be a pathological finding in patients with inherited and idiopathic cervical dystonia (ICD). The analysis of conventional magnetic resonance imaging brain scans failed to yield support for this finding.
Car accidents in drivers with Parkinson's disease or multiple sclerosis: A Swedish nationwide study
Linnea Anjemark, Helena Selander, Hanna C. Persson
doi : 10.1111/ene.15755
Parkinson's disease (PD) and multiple sclerosis (MS) can impair driving. However, we lack evidence on car accidents associated with these diseases.
Nigrosome 1 visibility and its association with nigrostriatal dopaminergic loss in Parkinson's disease
Han-Kyeol Kim, Taewon Kim, Min Seok Baek, Eung Yeop Kim, Young Hee Sung, Jae Hoon Lee, Young Hoon Ryu, Sung Jun Ahn, Han Soo Yoo, Chul Hyoung Lyoo
doi : 10.1111/ene.15781
Nigrosome 1 (NG1), a small cluster of dopaminergic cells in the substantia nigra and visible in the susceptibility map-weighted magnetic resonance image (SMwI), is severely affected in Parkinson's disease (PD). However, the degree of nigrostriatal degeneration according to the visibility of NG1 has not yet been well elucidated.
Incidence and outcomes of head injuries in people with and without Parkinson disease
Sarianna Ilmaniemi, Anna-Maija Tolppanen, Sanna-Kaisa Herukka, Päivi Hartikainen, Sirpa Hartikainen
doi : 10.1111/ene.15782
Fall-related injuries are a major health concern among people with Parkinson disease (PD). We compared the incidence and postinjury mortality of head injuries and traumatic brain injury (TBI) among persons with and without PD.
Identifying clinical features and blood biomarkers associated with mild cognitive impairment in Parkinson disease using machine learning
Xiao Deng, Yilin Ning, Seyed Ehsan Saffari, Bin Xiao, Chenglin Niu, Samuel Yong Ern Ng, Nicole Chia, Xinyi Choi, Dede Liana Heng, Yi Jayne Tan, Ebonne Ng, Zheyu Xu, Kay-Yaw Tay, Wing-Lok Au, Adeline Ng, Eng-King Tan, Nan Liu, Louis C. S. Tan
doi : 10.1111/ene.15785
A broad list of variables associated with mild cognitive impairment (MCI) in Parkinson disease (PD) have been investigated separately. However, there is as yet no study including all of them to assess variable importance.
Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism
E. Mutez, M. Swiderski, D. Devos, C. Moreau, G. Baille, A. Degardin, G. Ryckewaert, N. Carriere, A. Kreisler, C. Simonin, N. Rouaix, M. Tir, P. Krystkowiak, N. Ramdane, M. Génin, B. Sablonnière, L. Defebvre, V. Huin
doi : 10.1111/ene.15788
The monogenic forms of Parkinson's disease represent <10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking.
Effect of small vessel disease severity on blood pressure management after endovascular therapy in the BP TARGET trial
Ran Brauner, Benjamin Gory, Bertrand Lapergue, Igor Sibon, Sebastien Richard, Maeva Kyheng, Julien Labreuche, Jean-Philippe Desilles, Raphael Blanc, Michel Piotin, Jean-Michel Halimi, Mikael Mazighi, Benjamin Maïer, for the BP TARGET Investigators
doi : 10.1111/ene.15759
Acute ischaemic stroke patients with cerebral small vessel disease (CSVD), including cerebral microbleeds (CMBs) and white matter hyperintensities (WMHs), have worse outcomes.
External validation of the diagnostic value of perihematomal edema characteristics in neoplastic and non-neoplastic intracerebral hemorrhage
Jawed Nawabi, Tobias Orth, Sophia Schulze-Weddige, Georg Lukas Baumgaertner, Anna Tietze, Christian Thaler, Tobias Penzkofer
doi : 10.1111/ene.15760
Neoplastic intracerebral hemorrhage (ICH) may be incorrectly identified as non-neoplastic ICH on imaging. Relative perihematomal edema (relPHE) on computed tomography (CT) has been proposed as a marker to discriminate neoplastic from non-neoplastic ICH but has not been externally validated.
Multiple sleep–wake disturbances after stroke predict an increased risk of cardio-cerebrovascular events or death: A prospective cohort study
Simone B. Duss, Corrado Bernasconi, Anita Steck, Anne-Kathrin Brill, Mauro Manconi, Martijn Dekkers, Markus H. Schmidt, Claudio L. A. Bassetti
doi : 10.1111/ene.15784
Contradictory evidence on the impact of single sleep-wake-disturbances (SWD), such as sleep-disorderd breating (SDB) or insomnia, in patients with stroke, on the risk of subsequent cardio- and cerebrovascular events (CCE) and death, exists.
Modulation of bodily response to chill stimuli by impaired structural connectivity of the left insula: a functional and lesion quantification study in stroke patients
Witt L., Klepzig K., von Sarnowski B., Horn U., Domin M., Hamm A., Lotze M.
doi : 10.1111/ene.15771
The insula has important functions in monitoring and integrating physiological responses to a personal experience of multimodal input. The experience of chills in response to auditory stimuli is an important example for a relevant arousing experience coupled with bodily response. A group study about altered chill experiences in patients with insula lesions is lacking.
Impact of the COVID-19 pandemic on clinical autonomic practice in Europe: a survey of the European Academy of Neurology and the European Federation of Autonomic Societies
Alessandra Fanciulli, Fabian Leys, Magdalena Krbot Skorić, Diogo Reis Carneiro, Giovanna Calandra-Buonaura, Jennifer Camaradou, Giacomo Chiaro, Pietro Cortelli, Cristian Falup-Pecurariu, Roberta Granata, Pietro Guaraldi, Raimund Helbok, Max J. Hilz, Valeria Iodice, Jens Jordan, Evert C. A. Kaal, Anita Kamondi, Anne Pavy Le Traon, Isabel Rocha, Johann Sellner, Jean Michel Senard, Astrid Terkelsen, Gregor K. Wenning, Elena Moro, Thomas Berger, Roland D. Thijs, Walter Struhal, Mario Habek, the Collaborators of European Network of Neurological ANS laboratories
doi : 10.1111/ene.15787
The objective was to investigate the impact of the coronavirus disease 2019 (COVID-19) pandemic on European clinical autonomic practice.
A cerebellar degeneration-related protein 2-like cell-based assay for anti-Yo detection in patients with paraneoplastic cerebellar degeneration
Kjell Inge Erikstad, Ida Herdlevær, Elise Peter, Mette Haugen, Cecilie Totland, Christian Vedeler
doi : 10.1111/ene.15786
Commercially available tests for Yo antibody detection have low specificity for paraneoplastic cerebellar degeneration (PCD) because these assays use cerebellar degeneration-related protein 2 (CDR2) as the antigen, not CDR2-like (CDR2L).
New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia
Francesca Sardina, Davide Valente, Gaia Fattorini, Ettore Cioffi, Gianmarco Dalla Zanna, Alessandra Tessa, Daniela Trisciuoglio, Silvia Soddu, Filippo M. Santorelli, Carlo Casali, Cinzia Rinaldo
doi : 10.1111/ene.15756
Microtubule defects are a common feature in several neurodegenerative disorders, including hereditary spastic paraplegia. The most frequent form of hereditary spastic paraplegia is caused by mutations in the SPG4/SPAST gene, encoding the microtubule severing enzyme spastin.
Neural cell adhesion molecule 1 is a cellular target engaged plasma biomarker in demyelinating Charcot–Marie–Tooth disease
Young Hee Kim, Byeol-A Yoon, Young Rae Jo, Soo Hyun Nam, Nam Hee Kim, Kyoung Hee Kim, Jong Kuk Kim, Byung-Ok Choi, Hwan Tae Park
doi : 10.1111/ene.15763
Elevated plasma concentrations of neural cell adhesion molecule 1 (NCAM1) and p75 neurotrophin receptor (p75) in patients with peripheral neuropathy have been reported. This study aimed to determine the specificity of plasma concentration elevation of either NCAM1 or p75 in a subtype of Charcot–Marie–Tooth disease (CMT) and its correlation with pathologic nerve status and disease severity.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function
Marika Pane, Giorgia Coratti, Valeria A. Sansone, Sonia Messina, Michela Catteruccia, Claudio Bruno, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Noemi Brolatti, Irene Mizzoni, Adele D'Amico, Chiara Bravetti, Beatrice Berti, Concetta Palermo, Daniela Leone, Francesca Salmin, Roberto De Sanctis, Maria Carmela Pera, Marco Piastra, Orazio Genovese, Federica Ricci, Ilaria Cavallina, Riccardo Masson, Riccardo Zanin, Caterina Agosto, Eleonora Salomon, Irene Bruno, Andrea Magnolato, Enrico Bertini, Francesco Danilo Tiziano, Francesca Bovis, Eugenio Mercuri, the Italian EAP Working Group
doi : 10.1111/ene.15768
We report the 4-year follow-up in type I patients treated with nusinersen and the changes in motor, respiratory and bulbar function in relation to subtype, age and SMN2 copy number.
An observational study on monoclonal antibodies against calcitonin-gene-related peptide and its receptor
Francesca Schiano di Cola, Marco Bolchini, Giulia Ceccardi, Salvatore Caratozzolo, Paolo Liberini, Renata Rao, Alessandro Padovani
doi : 10.1111/ene.15761
Based on their pharmacological target, two classes of calcitonin-gene-related peptide (CGRP) monoclonal antibodies (mAbs) have been identified: antibodies against the CGRP ligand�galcanezumab, fremanezumab, eptinezumab�and antibodies against the CGRP receptor (CGRP-R), erenumab.
Sex differences in clinical characteristics of migraine and its burden: a population-based study
Mona Ameri Chalmer, Lisette J. A. Kogelman, Ida Callesen, Charlotte Grønvold Christensen, Tanya Ramdal Techlo, Peter L. Møller, Olafur B. Davidsson, Isa A. Olofsson, Michael Schwinn, Susan Mikkelsen, Khoa Manh Dinh, Kaspar Nielsen, Mie Topholm, Christian Erikstrup, Sisse Rye Ostrowski, Ole Birger Pedersen, DBDS Genomic Consortium, Henrik Hjalgrim, Karina Banasik, Kristoffer S. Burgdorf, Mette Nyegaard, Jes Olesen, Thomas Folkmann Hansen
doi : 10.1111/ene.15778
Understanding migraine in a sex-specific manner is crucial for improving clinical care, diagnosis and therapy for both females and males. Here, data on sex differences are provided in the presentation of migraine in a large European-based population cohort, which is representative of the general population.
Acute truncal ataxia without nystagmus in patients with acute vertigo
Sergio Carmona, Carlos MartÃnez, Guillermo Zalazar, Nehzat Koohi, Diego Kaski
doi : 10.1111/ene.15729
Differentiating between peripheral and central aetiologies can be challenging in patients with acute vertigo, given substantial symptom overlap.
Impact of genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: A systematic review
Shubham Misra, Terence J. Quinn, Guido J. Falcone, Vijay K. Sharma, Adam de Havenon, Yize Zhao, Ece Eldem, Jacqueline A. French, Clarissa Lin Yasuda, Jesse Dawson, David S. Liebeskind, Patrick Kwan, Nishant K. Mishra
doi : 10.1111/ene.15777
The genetics of late seizure or epilepsy secondary to traumatic brain injury (TBI) or stroke are poorly understood. We undertook a systematic review to test the association of single-nucleotide polymorphisms (SNPs) with the risk of post-traumatic epilepsy (PTE) and post-stroke epilepsy (PSE).
Anti-kelchlike protein 11 antibody-associated encephalitis: Two case reports and review of the literature
Alejandro León Betancourt, Anina Schwarzwald, Alban Millonig, Michael Oberholzer, Lidia Sabater, Helly Hammer, Nicole Kamber, Lara Diem, Andrew Chan, Robert Hoepner, Anke Salmen, Christoph Friedli
doi : 10.1111/ene.15758
Kelchlike protein 11 antibodies (KLHL11-IgGs) were first described in 2019 as a marker of paraneoplastic neurological syndromes (PNSs). They have mostly been associated with testicular germ cell tumors (tGCTs).
Migraine and thyroid dysfunction: Co-occurrence, shared genes and biological mechanisms
Sana Tasnim, Dale R. Nyholt
doi : 10.1111/ene.15753
Migraine and thyroid dysfunction, particularly hypothyroidism, are common medical conditions and are known to have high heritability.
Orbital myositis induced by alendronate: A case report
Lucie Lefeuvre, Anna Caruso, Emmanuel Biver, Damien Fayolle
doi : 10.1111/ene.15772
Bisphosphonates are widely used, notably for osteoporosis treatment. Their common side effects are well known. However, they can trigger less common effects such as orbital inflammation. Here, the case is reported of an orbital myositis triggered by alendronate.
Concerns about the European Academy's Recommendations and Guidelines Regarding Pallidotomy for Parkinson's Disease
Marwan Hariz, Jeff M. Bronstein, G. Rees Cosgrove, Rob M. A. de Bie, Mahlon R. DeLong, Robert E. Gross, Paul Krack, Joachim K. Krauss, Anthony E. Lang, Andrew J. Lees, Andres M. Lozano, José A. Obeso, P. Richard Schuurman, Jerold L. Vitek
doi : 10.1111/ene.15569
Confusion of evidence-based reviews and guidelines
Günther Deuschl, Angelo Antonini, Joao Costa, Katarzyna ÅšmiÅ‚owska, Daniela Berg, Jean-Christophe Corvol, Giovanni Fabbrini, Joaquim Ferreira, Tom Foltynie, Pablo Mir, Anette Schrag, Klaus Seppi, Pille Taba, Evzen Ruzicka, Marianna Selikhova, Nicholas Henschke, Gemma Villanueva, Elena Moro
doi : 10.1111/ene.15581
Assessing post-COVID myopathy by MRI requires large cohorts and comparison with a gold standard
Josef Finsterer, Sounira Mehri
doi : 10.1111/ene.15780
Reply to Finsterer and Mehri “Assessing post-COVID myopathy by MRI requires large cohorts and comparison with a gold standard�
Elena Enax-Krumova, Johannes Forsting, Marlena Rohm, Peter Schwenkreis, Martin Tegenthoff, Christine H. Meyer-Frießem, Lara Schlaffke
doi : 10.1111/ene.15774
