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Journal of Neurology

Jeffrey L Jackson, Cynthia Kay, Cecilia Scholcoff, Sarah Nickoloff, Kathlyn Fletcher
No abstract text is available yet for this article.
September 19, 2018: Journal of Neurology
Katarina Ivana Tudor, S Eames, C Haslam, J Chataway, M D Liechti, J N Panicker
BACKGROUND: Sexual dysfunction (SD) is common in multiple sclerosis (MS), however, under-reported. OBJECTIVE: The aim of this study was to identify barriers faced by patients with MS and healthcare professionals (HCPs) in discussing SD. METHODS: This was a two-part prospective study carried out at a tertiary care centre. Patients with MS were surveyed using a 29-item questionnaire and SD was assessed using the MSISQ and ASEX questionnaires; depression screened with PHQ-2...
September 19, 2018: Journal of Neurology
Olivier Scheidegger, Daniela Leupold, Rafael Sauter, Oliver Findling, Kai Michael Rösler, Thomas Hundsberger
INTRODUCTION: Although not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on the clinical effect of cessation and resuming ERT. Due to a Swiss supreme court decision on ERT reimbursement, a temporary stop of ERT occurred in our study population. The aim of this study was to report the 36-months follow-up assessments after resuming ERT...
September 19, 2018: Journal of Neurology
Feng Li, Benjamin Hotter, Marc Swierzy, Mahmoud Ismail, Andreas Meisel, Jens-C Rückert
BACKGROUND AND PURPOSE: Approximately, 50% of myasthenia gravis (MG) patients initially present with purely ocular symptoms. Of these, about 60% will develop secondary generalized MG, typically within 2 years. Risk factors for secondary generalization are still controversial. In this study, we reviewed clinical parameters, thymic pathologies and medical treatments of MG patients with purely ocular symptoms at onset to investigate risk factors for secondary generalization. METHODS: In this monocentric retrospective study, we reviewed consecutive patients who underwent robotic thymectomy between January 2003 and October 2017 in Charite Universitaetsmedizin Berlin...
September 17, 2018: Journal of Neurology
Morten Magelssen, Trygve Holmøy, Morten Andreas Horn, Ove Arne Fondenæs, Knut Dybwik, Reidun Førde
The special nature of amyotrophic lateral sclerosis (ALS) and tracheostomy with invasive ventilation (TIV) leads to challenges that can be difficult in two senses: not only to handle well, but also to discuss with patients and other involved stakeholders. Because of the delicate nature of interpersonal relations and communication in ALS, some of the downsides to TIV may almost take on a nature of taboo, making them difficult to raise for open discussion. Yet these ethical challenges are important to be aware of, not only for health professionals and managers but, arguably, also for patients and next of kin...
September 14, 2018: Journal of Neurology
Montserrat García, Juan Luis Haro-Gonzalez, Carmelo Aguirre
No abstract text is available yet for this article.
September 14, 2018: Journal of Neurology
Tim Godel, Anja Köhn, Nicole Muschol, Moritz Kronlage, Daniel Schwarz, Jennifer Kollmer, Sabine Heiland, Martin Bendszus, Victor-Felix Mautner, Philipp Bäumer
PURPOSE: To examine dorsal root ganglia and the proximal nerve segments in female patients with Fabry disease by functional and morphometric magnetic resonance neurography. METHODS: In this prospective multicenter study the lumbosacral dorsal root ganglia and proximal sciatic nerve were examined in ten female patients with Fabry disease by a standardized magnetic resonance neurography protocol at 3 T. Volumes of dorsal root ganglia L3-S2, permeability of dorsal root ganglia L5 and S1 and the spinal nerve L5 as well as the cross-sectional area of the proximal sciatic nerve were compared to 16 gender-matched healthy controls...
September 12, 2018: Journal of Neurology
M Balzer-Geldsetzer, J Klotsche, R Dodel, O Riedel
BACKGROUND: Parkinson's disease (PD) is characterized by severe motor and non-motor symptoms reducing patients' quality of life (QoL). Instruments have been well established for QoL assessments in PD, including the EuroQol (EQ-5D), the Parkinson's disease questionnaire (PDQ-39), or rather uncommon, like the WHOQOL-100. So far, the impact of variables has been investigated for each of these measures separately in different study populations, limiting the comparability of the results. Thus, this study compared the EQ-5D, PDQ-39, and the WHOQOL-100 (with its short-form WHOQOL-BREF) in the same study population...
September 12, 2018: Journal of Neurology
Hélèna L Denis, Jérôme Lamontagne-Proulx, Isabelle St-Amour, Sarah L Mason, Andreas Weiss, Sylvain Chouinard, Roger A Barker, Eric Boilard, Francesca Cicchetti
The production and release of extracellular vesicles (EV) is a property shared by all eukaryotic cells and a phenomenon frequently exacerbated in pathological conditions. The protein cargo of EV, their cell type signature and availability in bodily fluids make them particularly appealing as biomarkers. We recently demonstrated that platelets, among all types of blood cells, contain the highest concentrations of the mutant huntingtin protein (mHtt)-the genetic product of Huntington's disease (HD), a neurodegenerative disorder which manifests in adulthood with a complex combination of motor, cognitive and psychiatric deficits...
September 12, 2018: Journal of Neurology
Giulia Paparella, Gina Ferrazzano, Antonio Cannavacciuolo, Francesco Cogliati Dezza, Giovanni Fabbrini, Matteo Bologna, Alfredo Berardelli
Propranolol is used as the first-line treatment in essential tremor and it has also been proposed as a treatment for tremor in dystonia. However, several issues remain uncertain. For example, it is still not clear whether propranolol exerts a beneficial effect on head tremor. Moreover, no studies have investigated whether the effect of propranolol on head and upper limb tremor in essential tremor differs from that in dystonia. We aimed to assess the effects of propranolol on tremor in different body parts in essential tremor and in patients with tremor and dystonia...
September 12, 2018: Journal of Neurology
Pierpaolo Turcano, John J Chen, Britta L Bureau, Rodolfo Savica
Non-motor symptoms in Parkinson's disease are an important cause of morbidity and may even precede the onset of the motor features of the disease. Visual abnormalities are among the most frequent non-motor symptoms observed during the early stages of the disease. Some of the visual symptoms of Parkinson's disease can likely be explained by the presence of dopaminergic neurons within the retina, where the progressive loss of dopamine and the accumulation of α-synuclein within the retinal layers leads to visual dysfunction, while some are caused by abnormalities in cortical visual processing...
September 12, 2018: Journal of Neurology
Rami Fakih, Marcelo Matiello, Tanuja Chitnis, James M Stankiewicz
OBJECTIVES: There are increasingly effective therapies for relapsing forms of multiple sclerosis (MS); however, the options for the progressive patient population are limited. The effect of mycophenolate mofetil (MMF), a disease-modifying agent for several autoimmune diseases, in progressive MS has not been explored effectively. We performed a prospective study to assess the safety and efficacy of MMF in progressive MS patients. METHODS: We identified 64 patients enrolled in the comprehensive longitudinal database at the Partners MS Center, who fulfilled our inclusion criteria...
September 10, 2018: Journal of Neurology
Lorenzo Gaetani, Luca Prosperini, Andrea Mancini, Paolo Eusebi, Maria Chiara Cerri, Carlo Pozzilli, Paolo Calabresi, Paola Sarchielli, Massimiliano Di Filippo
OBJECTIVES: To investigate the impact of the 2017 revisions of McDonald criteria on the diagnosis of multiple sclerosis (MS) in a cohort of patients with clinically isolated syndrome (CIS) and dissemination in space (DIS) of demyelinating lesions. METHODS: We retrospectively analyzed 137 patients with CIS + DIS from two Italian MS centers. RESULTS: Application of the 2017 revisions of McDonald criteria in our cohort led to a diagnosis of MS in 82...
September 8, 2018: Journal of Neurology
Joke De Pauw, Patrick Cras, Steven Truijen, Rudy Mercelis, Sarah Michiels, Wim Saeys, Luc Vereeck, Ann Hallemans, Willem De Hertogh
BACKGROUND: Patients with idiopathic cervical dystonia (CD) experience involuntary neck muscle contractions, abnormal head position and pain accompanied by dysfunctions in somatosensory processes such as postural control, cervical sensorimotor and perception of visual verticality. First-line treatment is injection with botulinum toxin (BoNT). It remains unclear whether this affects sensorimotor processes. AIM: To investigate the effect of first-line care on deficiencies in somatosensory processes...
September 8, 2018: Journal of Neurology
Amanda Kahn, Gurmeen Kaur, Laura Stein, Stanley Tuhrim, Mandip S Dhamoon
BACKGROUND: International trials suggest benefit of revascularization surgery (RS) for moyamoya disease (MMD). However, nationally representative US data on demographics and outcomes after RS in MMD are lacking. AIMS: To estimate causes and rates of readmission after RS for MMD. METHODS: In the Nationwide Readmissions Database, index admissions for ECICB for MMD and readmissions for ischemic stroke (IS), subarachnoid hemorrhage (SAH), and intracerebral hemorrhage (ICH) were identified using validated International Classification of Diseases, Ninth Revision, Clinical Modification codes...
September 8, 2018: Journal of Neurology
Franz Marxreiter, Heiko Gaßner, Olga Borozdina, Jens Barth, Zacharias Kohl, Johannes C M Schlachetzki, Caroline Thun-Hohenstein, Dieter Volc, Bjoern M Eskofier, Jürgen Winkler, Jochen Klucken
Mobile, sensor-based gait analysis in Parkinson's disease (PD) facilitates the objective measurement of gait parameters in cross-sectional studies. Besides becoming outcome measures for clinical studies, the application of gait parameters in personalized clinical decision support is limited. Therefore, the aim of this study was to evaluate whether the individual response of PD patients to dopaminergic treatment may be measured by sensor-based gait analysis. 13 PD patients received apomorphine every 15 min to incrementally increase the bioavailable apomorphine dose...
September 8, 2018: Journal of Neurology
Karlien Mul, Corinne G C Horlings, Sanne C C Vincenten, Nicol C Voermans, Baziel G M van Engelen, Nens van Alfen
OBJECTIVE: To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients. METHODS: We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27 FSHD patients and assessed images, both quantitatively and visually, for fatty infiltration, fibrosis and edema. RESULTS: The MRI fat fraction and ultrasound echogenicity z-score correlated strongly (CC 0...
September 6, 2018: Journal of Neurology
Stefanie Schreiber, Nicola Spotorno, Frank Schreiber, Julio Acosta-Cabronero, Jörn Kaufmann, Judith Machts, Grazyna Debska-Vielhaber, Cornelia Garz, Daniel Bittner, Nathalie Hensiek, Reinhard Dengler, Susanne Petri, Peter J Nestor, Stefan Vielhaber
Cerebrospinal fluid (CSF) neurofilament light chain (NfL) has emerged as putative diagnostic biomarker in amyotrophic lateral sclerosis (ALS), but it remains a matter of debate, whether CSF total tau (ttau), tau phosphorylated at threonine 181 (ptau) and the ptau/ttau ratio could serve as diagnostic biomarker in ALS as well. Moreover, the relationship between CSF NfL and tau measures to further axonal and (neuro)degeneration markers still needs to be elucidated. Our analysis included 89 ALS patients [median (range) age 63 (33-83) years, 61% male, disease duration 10 (0...
September 5, 2018: Journal of Neurology
Kwang-Dong Choi, Ji-Soo Kim
Discriminating strokes in patients with acute dizziness/vertigo is challenging especially when other symptoms and signs of central nervous involvements are not evident. Despite the developments in imaging technology over the decades, a significant proportion of acute strokes may escape detection on imaging especially during the acute phase or when the lesions are small. Thus, small strokes causing isolated dizziness/vertigo would have a higher chance of misdiagnosis in the emergency department. Even though several diagnostic algorithms have been advanced for acute vascular vertigo, we still await more comprehensive and sophisticated ones that can also be applied to transient vestibular symptoms due to vascular compromise...
September 5, 2018: Journal of Neurology
Lam-Thanh Ly, Jakob Kreye, Betty Jurek, Jonas Leubner, Franziska Scheibe, Johannes Lemcke, Nina Kerstin Wenke, Sebastian Momsen Reincke, Harald Prüss
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a common autoimmune encephalitis presenting with psychosis, dyskinesias, autonomic dysfunction and seizures. The underlying autoantibodies against the NR1 subunit are directly pathogenic by disrupting synaptic NMDAR currents. However, antibody titers correlate only partially with the clinical outcome, suggesting the relevance of other factors such as antibody affinity. We thus determined the binding curves of human monoclonal autoantibodies and patients' cerebrospinal fluid (CSF) against NR1-expressing HEK293 cells using flow cytometry...
September 5, 2018: Journal of Neurology
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