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Journal of Neurology OnlineFirst articles

17.02.2020 | Original Communication Open Access

Pallidal lead placement in dystonia: leads of non-responders are contained within an anatomical range defined by responders

Pallidal deep brain stimulation (DBS) is an effective and well-established treatment for medical-refractory focal, segmental or generalized isolated dystonia [ 1 , 2 ]. Responders to DBS treatment typically have a clinical improvement of more than …

Autoren:
Simone Zittel, Ute Hidding, Maria Trumpfheller, Vanessa Lupici Baltzer, Alessandro Gulberti, Miriam Schaper, Maxine Biermann, Carsten Buhmann, Andreas K. Engel, Christian Gerloff, Manfred Westphal, Jana Stadler, Johannes A. Köppen, Monika Pötter-Nerger, Christian K. E. Moll, Wolfgang Hamel

17.02.2020 | Original Communication

Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6

Evolution of vestibular function requires further elucidation in spinocerebellar ataxia (SCA). This study aimed to determine temporal evolution in the findings of head impulse tests (HITs) in SCA type 6 (SCA6). We serially evaluated HITs in 12 …

Autoren:
Sun-Uk Lee, Ji-Soo Kim, Hyo-Jung Kim, Jeong-Yoon Choi, Ji-Yun Park, Jong-Min Kim, Xu Yang

17.02.2020 | Original Communication

Physical activity in myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is the most prevalent adult-onset muscular dystrophy [ 1 ]. It is characterized by distal muscle weakness in the extremities and multiorgan manifestations [ 2 ]. Strength and aerobic exercise of moderate intensity …

Autoren:
Kirsten Lykke Knak, Aisha Munawar Sheikh, Nanna Witting, John Vissing

15.02.2020 | Original Communication

Outcome of patients with large vessel occlusion in the anterior circulation and low NIHSS score

Up to 30% of patients with large vessel occlusion (LVO) in the anterior circulation and good collaterals present with NIHSS score ≤ 5 [ 1 – 6 ]. Many of these patients tend to be treated conservatively without thrombolysis and/or thrombectomy …

Autoren:
Mirjam R. Heldner, Panagiotis Chaloulos-Iakovidis, Leonidas Panos, Bastian Volbers, Johannes Kaesmacher, Tomas Dobrocky, Pasquale Mordasini, Marwan El-Koussy, Jan Gralla, Marcel Arnold, Urs Fischer, Heinrich P. Mattle, Simon Jung

14.02.2020 | Original Communication

A study of susceptibility-weighted imaging in patients with Wilson disease during the treatment of metal chelator

Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism. Clinical features are mainly progressive and aggravated cirrhosis of liver, extrapyramidal symptoms, mental symptoms, bone and joint abnormalities, renal …

Autoren:
Xiangxue Zhou, Xia Xiao, Xun-hua Li, Hao-ling Qin, Xiao-Yong Pu, Ding-bang Chen, Chao Wu, Li Feng, Xiu-ling Liang

13.02.2020 | Original Communication

Long-term effects of bilateral pallidal deep brain stimulation in dystonia: a follow-up between 8 and 16 years

Isolated dystonia is a movement disorder characterized by involuntary sustained or intermittent muscle contractions causing twisting movements and abnormal postures that may be tremulous [ 1 , 2 ]. Dystonia is distinguished by age of onset, body …

Autoren:
P. Krause, S. Völzmann, S. Ewert, A. Kupsch, G. H. Schneider, Andrea A. Kühn

13.02.2020 | Original Communication Open Access

MOG encephalomyelitis: distinct clinical, MRI and CSF features in patients with longitudinal extensive transverse myelitis as first clinical presentation

Myelin oligodendrocyte glycoprotein (MOG) is an encephalitogenic protein on CNS oligodendrocytes that can initiate demyelinating autoimmune responses in experimental models of inflammatory demyelinating diseases [ 1 ]. After years of conflicting …

Autoren:
Julia Loos, Steffen Pfeuffer, Katrin Pape, Tobias Ruck, Felix Luessi, Annette Spreer, Frauke Zipp, Sven G. Meuth, Stefan Bittner

12.02.2020 | Original Communication Open Access

Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia

Frontotemporal dementia (FTD) includes a large spectrum of neurodegenerative disorders with a variable clinical presentation of either progressive behavioral and executive deficits (behavioral variant FTD [bvFTD]) or language dysfunction (primary …

Autoren:
J. M. Poos, L. C. Jiskoot, S. M. J. Leijdesdorff, H. Seelaar, J. L. Panman, E. L. van der Ende, M. O. Mol, L. H. H. Meeter, Y. A. L. Pijnenburg, L. Donker Kaat, F. J. de Jong, J. C. van Swieten, J. M. Papma, E. van den Berg

12.02.2020 | Original Communication

Prognostic role of slow vital capacity in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a relentless neurodegenerative disorder involving motor neurons and causing the paralysis of all voluntary muscles [ 1 ]. Death usually occurs within 2–4 years from symptoms onset due to respiratory failure [ …

Autoren:
Andrea Calvo, Rosario Vasta, Cristina Moglia, Enrico Matteoni, Antonio Canosa, Alessio Mattei, Claudio La Mancusa, Luana Focaraccio, Letizia Mazzini, Adriano Chiò, Fabrizio D’Ovidio, Umberto Manera

12.02.2020 | Letter to the Editors

Comment on: “Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers”

Autoren:
Yılmaz Yıldız, Ayşegül Tokatlı

12.02.2020 | Letter to the Editors

Reversal of spontaneous nystagmus during visual fixation in dorsal medullary infarction

Autoren:
Hyung Lee, Hyun Ah Kim

11.02.2020 | Original Communication Open Access

Gait variability as digital biomarker of disease severity in Huntington’s disease

Huntington’s disease (HD) is an autosomal-dominant, neurodegenerative disease characterized by the triad of motor deficits, cognitive decline, and neurobehavioral symptoms [ 1 ]. In particular, gait impairment plays an important role upon motor …

Autoren:
Heiko Gaßner, Dennis Jensen, F. Marxreiter, Anja Kletsch, Stefan Bohlen, Robin Schubert, Lisa M. Muratori, Bjoern Eskofier, Jochen Klucken, Jürgen Winkler, Ralf Reilmann, Zacharias Kohl

10.02.2020 | Original Communication

Volume loss in the deep gray matter and thalamic subnuclei: a longitudinal study on disability progression in multiple sclerosis

Deep gray matter (DGM) pathology has been reported in patients with multiple sclerosis (MS) already at early stages of the disease [ 1 ]. Histological studies revealed alteration in the DGM of MS brains, due to both inflammatory and degenerative …

Autoren:
Stefano Magon, Charidimos Tsagkas, Laura Gaetano, Raihaan Patel, Yvonne Naegelin, Michael Amann, Katrin Parmar, Athina Papadopoulou, Jens Wuerfel, Christoph Stippich, Ludwig Kappos, M. Mallar Chakravarty, Till Sprenger

08.02.2020 | Review Open Access

Effects of disease-modifying therapy on peripheral leukocytes in patients with multiple sclerosis

Modern disease-modifying therapies (DMTs) in multiple sclerosis (MS) have variable modes of action and selectively suppress or modulate the immune system. In this review, we summarize the predicted and intended as well as unwanted adverse effects …

Autoren:
F. Schweitzer, S. Laurent, G. R. Fink, Michael H. Barnett, H. P. Hartung, C. Warnke

07.02.2020 | Original Communication

Subjects at risk of Parkinson’s disease in health checkup examinees: cross-sectional analysis of baseline data of the NaT-PROBE study

Parkinson’s disease (PD) is the second most common neurodegenerative disorder. In the prodromal phase of PD, various non-motor symptoms, including constipation, hyposmia, REM sleep behavior disorder (RBD), depression, and excessive daytime …

Autoren:
Makoto Hattori, Takashi Tsuboi, Katsunori Yokoi, Yasuhiro Tanaka, Maki Sato, Keisuke Suzuki, Yutaka Arahata, Akihiro Hori, Motoshi Kawashima, Akihiro Hirakawa, Yukihiko Washimi, Hirohisa Watanabe, Masahisa Katsuno

07.02.2020 | Original Communication

Utility of the Parkinson’s disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington’s disease

Huntington’s disease (HD) is a monogenetic, autosomal dominant neurodegenerative disorder caused by a CAG polyglutamine expansion in the HTT gene [ 1 ]. Clinical diagnosis is based on the presence of unequivocal motor abnormalities such as chorea …

Autoren:
Saul Martinez-Horta, Andrea Horta-Barba, Jesús Perez-Perez, Frederic Sampedro, Natascia de Lucia, Giuseppe De Michele, Stefanie Kehrer, Josef Priller, Simone Migliore, Ferdinando Squitieri, Anna Castaldo, Caterina Mariotti, Veronica Mañanes, Jose Luis Lopez-Sendon, Noelia Rodriguez, Asunción Martinez-Descals, Pedro Garcia-Ruiz, Filipa Júlio, Cristina Januário, Marianna Delussi, Marina de Tommaso, Sandra Noguera, Jesus Ruiz-Idiago, Emilia J. Sitek, Angela Nuzzi, Javier Pagonabarraga, Jaime Kulisevsky, Cognitive Phenotype Working Group of the European Huntington’s Disease Network

06.02.2020 | Original Communication Open Access

An evaluation of predictors for success of two-duct ligation for drooling in neurodisabilities

When drooling in children with neurodisabilities is not adequately managed with conservative treatment or botulinum neurotoxin A (BoNT-A), and age progresses, surgery is advocated in our institution [ 1 ].

Autoren:
Stijn Bekkers, Karen van Hulst, Corrie E. Erasmus, Corinne P. Delsing, Arthur R. T. Scheffer, Frank J. A. van den Hoogen

05.02.2020 | Original Communication

Nonmotor symptoms of 820 Taiwanese patients with Parkinson’s disease: an exploratory-comparative study

Nonmotor symptoms (NMSs) are regarded as one of the major disease burdens of patients with Parkinson’s disease (PD). During the past decades, many studies have documented the epidemiologic characteristics and clinical features of NMSs using a …

Autoren:
Yi-Chieh Chen, Ying-Zu Huang, Yi-Hsin Weng, Chiung-Chu Chen, June Hung, Yi-Ying Lin, Wey-Yil Lin, Rou‐Shayn Chen

04.02.2020 | Original Communication Open Access

Microbleeds in dementia with Lewy bodies

Dementia with Lewy bodies is characterised by alpha-synuclein (αSyn) deposition in brainstem, limbic and cortical areas [ 1 ]. This is often accompanied by other pathologies such as amyloid [ 2 ], tau [ 3 ] and vascular pathology [ 4 ]. Certain …

Autoren:
Paul C. Donaghy, Michael Firbank, Dipayan Mitra, George Petrides, Jim Lloyd, Nicola Barnett, Kirsty Olsen, Alan J. Thomas, John T. O’Brien

03.02.2020 | Original Communication

Underlying embolic and pathologic differentiation by cerebral microbleeds in cryptogenic stroke

Cryptogenic stroke (CS) accounts for one-fourth of cases of ischemic stroke subtypes, but there had been little progress in the field of the optimal treatment for CS for more than two decades [ 1 , 2 ]. Embolic stroke of undetermined source (ESUS) …

Autoren:
Muneaki Kikuno, Yuji Ueno, Takahiro Shimizu, Ayako Kuriki, Yohei Tateishi, Ryosuke Doijiri, Yoshiaki Shimada, Hidehiro Takekawa, Eriko Yamaguchi, Masatoshi Koga, Yuki Kamiya, Masafumi Ihara, Akira Tsujino, Koichi Hirata, Kazunori Toyoda, Yasuhiro Hasegawa, Hitoshi Aizawa, Nobutaka Hattori, Takao Urabe, CHALLENGE ESUS/C.S. collaborators