journal
MENU ▼
Read by QxMD icon Read
search

Journal of Neurology

journal
https://www.readbyqxmd.com/read/28653213/external-input-for-gait-in-people-with-parkinson-s-disease-with-and-without-freezing-of-gait-one-size-does-not-fit-all
#1
Pieter Ginis, Elke Heremans, Alberto Ferrari, Esther M J Bekkers, Colleen G Canning, Alice Nieuwboer
Cueing or feedback provided when gait deviates from a predefined goal (intelligent input) can now be provided with wearable technology for Parkinson's disease (PD). As people with and without freezing of gait (FOG) have distinct cognitive profiles, they may respond differently to various types of input. This study compared the effects of four input modalities during prolonged walking and explored the relationship with cognition, subjective preference, and FOG. Participants (15 with and 13 without FOG) walked 30 min while exposed to continuous cueing; intelligent cueing; intelligent feedback; or no input...
June 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28653212/higher-blood-brain-barrier-permeability-is-associated-with-higher-white-matter-hyperintensities-burden
#2
Yue Li, Man Li, Xiaoyu Zhang, Qinglei Shi, Shuna Yang, Huimin Fan, Wei Qin, Lei Yang, Junliang Yuan, Tao Jiang, Wenli Hu
The pathogenesis of white matter hyperintensities (WMH) is incompletely understood but blood-brain barrier (BBB) dysfunction may play a key role. This study aimed to investigate the relationship between BBB permeability and the severity of WMH burden. Consecutive participants without symptomatic stroke history presented for physical examination were recruited in this cross-sectional study and divided into three WMH burden groups according to total Fazekas scores. They received dynamic contrast-enhanced-magnetic resonance imaging to measure BBB permeability, and received Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA)...
June 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28653211/functional-psychogenic-stereotypies
#3
José Fidel Baizabal-Carvallo, Joseph Jankovic
Functional (psychogenic) movement disorders (FMDs) may present with a broad spectrum of phenomenology including stereotypic movements. We aimed to characterize the phenomenology of functional stereotypies and compare these features with those observed in 65 patients with tardive dyskinesia (TD). From a cohort of 184 patients with FMDs, we identified 19 (10.3%) with functional stereotypies (FS). There were 15 women and 4 men, with a mean age at onset of 38.6 ± 17.4 years. Among the patients with FS, there were 9 (47%) with orolingual dyskinesia/stereotypy, 9 (47%) with limb stereotypies, 6 (32%) with trunk stereotypies, and 2 (11%) with respiratory dyskinesia as part of orofacial-laryngeal-trunk stereotypy...
June 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28653210/lateralized-microstructural-changes-in-early-stage-parkinson-s-disease-in-anterior-olfactory-structures-but-not-in-substantia-nigra
#4
N Joshi, T M Rolheiser, J D Fisk, J R McKelvey, K Schoffer, G Phillips, M Armstrong, M N Khan, R A Leslie, B Rusak, H A Robertson, K P Good
Parkinson's disease (PD) is a progressive neurological disorder characterized by motor symptoms as well as severe deficits in olfactory function and microstructural changes in olfactory brain regions. Because of the evidence of asymmetric neuropathological features in early-stage PD, we examined whether lateralized microstructural changes occur in olfactory brain regions and the substantia nigra in a group of early-stage PD patients. Using diffusion tensor imaging (DTI) and the University of Pennsylvania Smell Identification Test (UPSIT), we assessed 24 early-stage PD patients (Hoehn and Yahr stage 1 or 2) and 26 healthy controls (HC)...
June 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28634652/a-multi-source-approach-to-determine-sma-incidence-and-research-ready-population
#5
Ingrid E C Verhaart, Agata Robertson, Rebecca Leary, Grace McMacken, Kirsten König, Janbernd Kirschner, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively small regions or populations. Combining data from different sources including genetic laboratories and patient registries may provide better insight of the disease epidemiology. To investigate the incidence of genetically confirmed SMA, and the number of patients who are able and approachable to participate in new clinical trials and observational research, we used both genetic laboratories, the TREAT-NMD Global SMA Patient Registry and the Care and Trial Sites Registry (CTSR)...
June 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28631129/optimizing-the-deep-brain-stimulation-care-pathway-in-patients-with-parkinson-s-disease
#6
N J Thomas, P Mertens, T Danaila, G Polo, H Klinger, E Broussolle, S Thobois
Management of Parkinson's disease (PD) using deep brain stimulation (DBS) requires complex care in specialized, multidisciplinary centers. A well-organized, efficient patient flow is crucial to ensure that eligible patients can quickly access DBS. Delays or inefficiencies in patient care may impact a center's ability to meet demand, creating a capacity bottleneck. Analysis of the current practices within a center may help identify areas for improvement. After external audit of the DBS workflow of the Lyon Neurological Hospital and comparison with other European centers, manageable steps were suggested to restructure the care pathway...
June 19, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28631128/the-witchcraft-of-encephalitis-in-salem
#7
LETTER
Johnny Tam, Michael S Zandi
No abstract text is available yet for this article.
June 19, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28620721/a-novel-gain-of-function-mutation-in-the-itpr1-suppressor-domain-causes-spinocerebellar-ataxia-with-altered-ca-2-signal-patterns
#8
Jillian P Casey, Taisei Hirouchi, Chihiro Hisatsune, Bryan Lynch, Raymond Murphy, Aimee M Dunne, Akitoshi Miyamoto, Sean Ennis, Nick van der Spek, Bronagh O'Hici, Katsuhiko Mikoshiba, Sally Ann Lynch
We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant spinocerebellar ataxia characterized by early motor delay, poor coordination, gait ataxia, and dysarthria. Whole exome sequencing identified a novel missense variant (c.106C>T; p.[Arg36Cys]) in the suppressor domain of type 1 inositol 1,4,5-trisphosphate receptor gene (ITPR1) as the cause of the disorder, resulting in a molecular diagnosis of spinocerebellar ataxia type 29...
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28620720/lower-medulla-hypoplasia-in-friedreich-ataxia-mr-imaging-confirmation-140%C3%A2-years-later
#9
LETTER
Mario Mascalchi, Andrea Bianchi, Stefano Ciulli, Andrea Ginestroni, Marco Aiello, Maria Teresa Dotti, Fabrizio Salvi, Emanuele Nicolai, Andrea Soricelli, Stefano Diciotti
No abstract text is available yet for this article.
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28620719/large-coverage-mr-neurography-in-cidp-diagnostic-accuracy-and-electrophysiological-correlation
#10
Moritz Kronlage, Philipp Bäumer, Kalliopi Pitarokoili, Daniel Schwarz, Véronique Schwehr, Tim Godel, Sabine Heiland, Ralf Gold, Martin Bendszus, Min-Suk Yoon
The objective of this study was to evaluate large coverage magnetic resonance neurography (MRN) in chronic inflammatory demyelinating polyneuropathy (CIDP). In this prospective study, 18 patients with CIDP and 18 healthy controls were examined by a standardized MRN protocol at 3 T. Lumbosacral plexus was imaged by a T2-weighted 3D sequence and peripheral nerves of the upper and lower extremity by axial T2-weighted turbo spin-echo sequences. Lesions were characterized by nerve cross-sectional area (CSA) and T2-weighted signal (nT2)...
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28620718/the-phenotypic-spectrum-of-arhgef9-includes-intellectual-disability-focal-epilepsy-and-febrile-seizures
#11
Karl Martin Klein, Manuela Pendziwiat, Anda Eilam, Ronit Gilad, Ilan Blatt, Felix Rosenow, Moien Kanaan, Ingo Helbig, Zaid Afawi
Mutations or structural genomic alterations of the X-chromosomal gene ARHGEF9 have been described in male and female patients with intellectual disability. Hyperekplexia and epilepsy were observed to a variable degree, but incompletely described. Here, we expand the phenotypic spectrum of ARHGEF9 by describing a large Ethiopian-Jewish family with epilepsy and intellectual disability. The four affected male siblings, their unaffected parents and two unaffected female siblings were recruited and phenotyped. Parametric linkage analysis was performed using SNP microarrays...
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28620717/multiple-variants-in-families-with-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia-related-to-c9orf72-repeat-expansion-further-observations-on-their-oligogenic-nature
#12
Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Annalisa Pession, Patrizia De Massis, Federico Oppi, Michelangelo Stanzani-Maserati, Elena Pasini, Simone Baiardi, Patrizia Avoni, Piero Parchi, Rocco Liguori, Sabina Capellari
The C9orf72 repeat expansion (RE) is one of the most frequent causative mutations of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, it is still unclear how the C9orf72 RE can lead to a heterogeneous phenotype. Several reports have shown the coexistence of mutations in multiple ALS/FTD causative genes in the same family, suggesting an oligogenic etiology for ALS and FTD. Our aim was to investigate this phenomenon in an Italian group of ALS/FTD pedigrees carrying the C9orf72 RE...
June 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28608304/lambert-eaton-myasthenic-syndrome-lems-a-rare-autoimmune-presynaptic-disorder-often-associated-with-cancer
#13
REVIEW
Benedikt Schoser, Bruno Eymard, Joe Datt, Renato Mantegazza
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune neuromuscular junction disorder that is related to the loss of functional P/Q-type voltage-gated calcium channels (VGCCs) on presynaptic nerve terminals. Up to 60% of cases occur as a paraneoplastic disorder (SCLC-LEMS), most commonly in association with small cell lung cancer. The remaining cases have an idiopathic non-tumor etiology but are associated with underlying autoimmune disease (NT-LEMS). Patients with LEMS invariably experience progressive proximal muscle weakness, often accompanied by general fatigue and autonomic symptoms...
June 12, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28608303/assessment-of-the-factorial-validity-and-reliability-of-the-alsfrs-r-a-revision-of-its-measurement-model
#14
Leonhard A Bakker, Carin D Schröder, Michael A van Es, Paul Westers, Johanna M A Visser-Meily, Leonard H van den Berg
The amyotrophic lateral sclerosis functional rating scale-revised (ALSFRS-R) is a widely used primary outcome measure in amyotrophic lateral sclerosis (ALS) clinical practice and clinical trials. ALSFRS-R items cannot, however, validly be summed to obtain a total score, but constitute domain scores reflecting a profile of disease severity. Currently, there are different measurement models for estimating domain scores. The objective of the present study is, therefore, to derive the measurement model that best fits the data for a valid and uniform estimation of ALSFRS-R domain scores...
June 12, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28608302/erratum-to-muscle-mri-in-neutral-lipid-storage-disease-nlsd
#15
Matteo Garibaldi, Giorgio Tasca, Jordi Diaz-Manera, Pierfancesco Ottaviani, Francesco Laschena, Donatella Pantoli, Simonetta Gerevini, Chiara Fiorillo, Lorenzo Maggi, Elisabetta Tasca, Adele D'Amico, Olimpia Musumeci, Antonio Toscano, Claudio Bruno, Roberto Massa, Corrado Angelini, Enrico Bertini, Giovanni Antonini, Elena Maria Pennisi
No abstract text is available yet for this article.
June 12, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28600596/relevance-of-early-cervical-cord-volume-loss-in-the-disease-evolution-of-clinically-isolated-syndrome-and-early-multiple-sclerosis-a-2-year-follow-up-study
#16
Inga T Hagström, Ruth Schneider, Barbara Bellenberg, Anke Salmen, Florian Weiler, Odo Köster, Ralf Gold, Carsten Lukas
Upper cervical cord area (UCCA) atrophy is a prognostic marker for clinical progression in longstanding multiple sclerosis (MS). The objectives of the study were to quantify UCCA atrophy and evaluate its impact in clinically isolated syndrome (CIS) and relapsing-remitting MS (RRMS); to compare converting CIS patients with stable CIS, and to study changes of UCCA and brain white matter (WM) and grey matter (GM) at 2-year follow-up. 110 therapy-naive patients including 53 CIS [6 ± 6 months after symptom onset (SO)] and 57 early RRMS (SO: 12 ± 9 months) underwent sagittal 3D-T1w brain MR (3T)...
June 9, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28600595/assessing-behavioural-changes-in-als-cross-validation-of-als-specific-measures
#17
Marta Pinto-Grau, Emmet Costello, Sarah O'Connor, Marwa Elamin, Tom Burke, Mark Heverin, Niall Pender, Orla Hardiman
The Beaumont Behavioural Inventory (BBI) is a behavioural proxy report for the assessment of behavioural changes in ALS. This tool has been validated against the FrSBe, a non-ALS-specific behavioural assessment, and further comparison of the BBI against a disease-specific tool was considered. This study cross-validates the BBI against the ALS-FTD-Q. Sixty ALS patients, 8% also meeting criteria for FTD, were recruited. All patients were evaluated using the BBI and the ALS-FTD-Q, completed by a carer. Correlational analysis was performed to assess construct validity...
June 9, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28597318/the-relationship-between-progressive-motor-deficits-and-lesion-location-in-patients-with-single-infarction-in-the-lenticulostriate-artery-territory
#18
Yasumasa Yamamoto, Yoshinari Nagakane, Yasuhiro Tomii, Shintaro Toda, Ichiro Akiguchi
As the corticospinal tracts cross the lenticulostriate artery (LSA) territory at the posterior segment, we hypothesized that posteriorly located infarctions of the LSA may be associated with progressive motor deficits. We prospectively studied 519 consecutive patients with LSA infarctions who entered our hospital within 24 h after onset. We categorized patients into two groups in terms of progress: no progress and progress. Progress was defined as worsening by 1 point or more in the National Institutes of Health Stroke Scale (NIHSS), some of which recovered afterward or thoroughly progressed...
June 8, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28597317/erratum-to-plasma-exchange-response-in-34-patients-with-severe-optic-neuritis
#19
Romain Deschamps, Antoine Gueguen, Nathalie Parquet, Samir Saheb, Francoise Driss, Malcie Mesnil, Catherine Vignal, Jennifer Aboab, Raphael Depaz, Olivier Gout
No abstract text is available yet for this article.
June 8, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28584915/understanding-lennox-gastaut-syndrome-insights-from-focal-epilepsy-patients-with-lennox-gastaut-features
#20
Sophie Dupont, Raluca Banica-Wolters, Isabelle An-Gourfinkel, Virginie Lambrecq, Vincent Navarro, Claude Adam, Vi-Huong Nguyen-Michel
To delineate the clinical and EEG features of adults with focal epilepsy associated with a generalized paroxysmal fast activity (GPFA) pattern on EEG who developed refractory seizures, notably drop attacks, but do not fulfill the classical triad for the diagnosis of Lennox-Gastaut syndrome (LGS) and provide further insight into LGS mechanisms. Among 957 patients admitted to video-EEG monitoring between 2002 and 2015, we retrospectively research adult patients with refractory focal epilepsy, drop attacks and GPFA on EEG...
June 5, 2017: Journal of Neurology
journal
journal
20158
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"