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Annals of Neurology

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https://read.qxmd.com/read/31102289/residual-descending-motor-pathways-influence-spasticity-after-spinal-cord-injury
#1
Sina Sangari, Henrik Lundell, Steven Kirshblum, Monica A Perez
OBJECTIVE: Spasticity is one of the most common symptoms manifested in humans with spinal cord injury (SCI). The neural mechanisms contributing to its development are not yet understood. Using neurophysiological and imaging techniques, we examined the influence of residual descending motor pathways on spasticity in humans with SCI. METHODS: We measured spasticity in 33 individuals with motor complete SCI (determined by clinical exam) without preservation of voluntary motor output in the quadriceps femoris muscle...
May 18, 2019: Annals of Neurology
https://read.qxmd.com/read/31074527/glial-injury-in-neurotoxicity-after-pediatric-cd19-directed-car-t-cell-therapy
#2
Juliane Gust, Olivia C Finney, Daniel Li, Hannah M Brakke, Roxana M Hicks, Robert B Futrell, Danielle N Gamble, Stephanie D Rawlings-Rhea, Hedieh K Khalatbari, Gisele E Ishak, Virginia E Duncan, Robert F Hevner, Michael C Jensen, Julie R Park, Rebecca A Gardner
OBJECTIVE: To test whether systemic cytokine release is associated with CNS inflammatory responses and glial injury in immune effector cell associated neurotoxicity syndrome (ICANS) after chimeric antigen receptor (CAR)-T cell therapy in children and young adults. METHODS: We performed a prospective cohort study of clinical manifestations as well as imaging, pathology, CSF and blood biomarkers on 43 subjects age 1-25 who received CD19-directed CAR-T cells for acute lymphoblastic leukemia (ALL)...
May 10, 2019: Annals of Neurology
https://read.qxmd.com/read/31070812/a-multicentre-retrospective-study-of-charcot-marie-tooth-disease-type-4b-cmt4b-due-to-mutations-in-myotubularin-related-proteins-mtmrs
#3
Davide Pareyson, Tanya Stojkovic, Mary M Reilly, Sarah Leonard-Louis, Matilde Laurà, Julian Blake, Yesim Parman, Esra Battaloglu, Meriem Tazir, Mounia Bellatache, Nathalie Bonello-Palot, Nicolas Lévy, Sabrina Sacconi, Raquel Guimarães-Costa, Sharham Attarian, Philippe Latour, Guilhem Solé, André Megarbane, Rita Horvath, Giulia Ricci, Byung-Ok Choi, Angelo Schenone, Chiara Gemelli, Alessandro Geroldi, Mario Sabatelli, Marco Luigetti, Lucio Santoro, Fiore Manganelli, Aldo Quattrone, Paola Valentino, Tatsufumi Murakami, Steven S Scherer, Lois Dankwa, Michael E Shy, Chelsea J Bacon, David N Herrmann, Alberto Zambon, Irene Tramacere, Chiara Pisciotta, Stefania Magri, Stefano C Previtali, Alessandra Bolino
OBJECTIVE: Charcot-Marie-Tooth disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with Myotubularin-related proteins (MTMRs) mutations. We conducted a multicentre retrospective study to better characterize CMT4B. METHODS: We collected clinical and genetic data from CMT4B subjects in 18 centres using a predefined minimal dataset including MRC scores of nine muscle pairs and CMT Neuropathy Score...
May 9, 2019: Annals of Neurology
https://read.qxmd.com/read/31066941/genetic-risk-of-dementia-risk-mitigated-by-cognitive-reserve-a-cohort-study
#4
Serhiy Dekhtyar, Anna Marseglia, Weili Xu, Alexander Darin-Mattsson, Hui-Xin Wang, Laura Fratiglioni
OBJECTIVE: We investigated if cognitive reserve modifies the risk of dementia attributable to Apolipoprotein-ε4 (APOE-ε4), a well-known genetic risk factor for dementia. METHODS: We followed 2556 cognitively intact participants aged ≥60 years from the ongoing prospective community-based Swedish National Study on Aging and Care Kungsholmen (SNAC-K). Dementia was ascertained through clinical and neuropsychological assessments and diagnosed according to DSM-IV criteria...
May 8, 2019: Annals of Neurology
https://read.qxmd.com/read/31050039/epilepsy-in-families-age-at-onset-is-a-familial-trait-independent-of-syndrome
#5
Colin A Ellis, Leonid Churilov, Michael P Epstein, Sharon X Xie, Susannah T Bellows, Ruth Ottman, Samuel F Berkovic
OBJECTIVE: We tested two hypotheses regarding age at onset within familial epilepsies: (1) family members with epilepsy tend to have similar ages at onset, independent of epilepsy syndrome; (2) age at onset is younger in successive generations after controlling for sampling bias. METHODS: We analyzed clinical data collected by the Epi4K Consortium (303 multiplex families, 1,120 individuals). To test hypothesis 1, we used both linear mixed models commonly used for heritability analysis and Cox regression models with frailty terms to assess clustering of onset within families after controlling for other predictors...
May 2, 2019: Annals of Neurology
https://read.qxmd.com/read/31050023/the-effect-of-intrathecal-baclofen-in-dyskinetic-cerebral-palsy-the-idys-trial
#6
Laura A Bonouvrié, Jules G Becher, Johan S H Vles, R Jeroen Vermeulen, Annemieke I Buizer
OBJECTIVE: Intrathecal baclofen treatment is used for the treatment of dystonia in patients with severe dyskinetic cerebral palsy, however, the current level of evidence for the effect is low. The primary aim of this study was to provide evidence for the effect of intrathecal baclofen treatment on individual goals in patients with severe dyskinetic cerebral palsy. METHODS: This multi-centre, randomized, double-blind, placebo-controlled trial was performed at two University Medical Centres in the Netherlands...
May 2, 2019: Annals of Neurology
https://read.qxmd.com/read/31050012/reply-to-grading-the-severity-of-autoimmune-encephalitis-advances-and-pitfalls
#7
LETTER
Jung-Ah Lim, Soon-Tae Lee, Kon Chu, Sang Kun Lee
No abstract text is available yet for this article.
May 2, 2019: Annals of Neurology
https://read.qxmd.com/read/31049995/grading-the-severity-of-autoimmune-encephalitis-advances-and-pitfalls
#8
LETTER
Gregorio Spagni, Raffaele Iorio
No abstract text is available yet for this article.
May 2, 2019: Annals of Neurology
https://read.qxmd.com/read/31025394/novel-mutations-in-mybpc1-are-associated-with-myogenic-tremor-and-mild-myopathy
#9
Janis Stavusis, Baiba Lace, Jochen Schäfer, Janelle Geist, Inna Inashkina, Dita Kidere, Sander Pajusalu, Nathan T Wright, Annika Saak, Manja Weinhold, Dietrich Haubenberger, Sandra Jackson, Aikaterini Kontrogianni-Konstantopoulos, Carsten G Bönnemann
OBJECTIVE: To define a distinct, dominantly inherited, mild skeletal myopathy associated with prominent and consistent tremor in two unrelated, three-generation families. METHODS: Clinical evaluations as well as exome and panel sequencing analyses were performed in affected and non-affected members of two families to identify genetic variants segregating with the phenotype. Histological assessment of a muscle biopsy specimen was performed in one patient and quantitative tremor analysis was carried out in two patients...
April 26, 2019: Annals of Neurology
https://read.qxmd.com/read/31025392/histologic-features-of-intracranial-thrombi-in-stroke-patients-with-cancer
#10
Hyungjong Park, Jayoung Kim, Jimin Ha, In Gun Hwang, Tae-Jin Song, Joonsang Yoo, Sung Hwan Ahn, Kyoungsub Kim, Byung Moon Kim, Dong Joon Kim, Young Dae Kim, Hyo Suk Nam, Il Kwon, Hyun-Jung Choi, Sung-Il Sohn, Hye Sun Lee, Ji Hoe Heo
The histologic features of thrombus in stroke patients with cancer are not well known. Using immunohistochemical staining of thrombi retrieved during mechanical thrombectomy in stroke patients, thrombus compositions were compared between 16 patients with active cancer, 16 patients with inactive cancer, and 16 patients without any history of cancer. The active cancer group showed higher platelet and lower erythrocyte fractions than the inactive cancer or the control group. Four patients with vegetation showed very high platelet and low erythrocyte fractions...
April 26, 2019: Annals of Neurology
https://read.qxmd.com/read/31020699/cell-therapy-for-ischemic-stroke-are-differences-in-preclinical-and-clinical-study-design-responsible-for-the-translational-loss-of-efficacy
#11
Li-Li Cui, Dominika Golubczyk, Anna-Maija Tolppanen, Johannes Boltze, Jukka Jolkkonen
Cell therapy is an attractive strategy for enhancing post-stroke recovery. Different cell types and several treatment strategies have been successfully applied in animal models, but efficacy in stroke patients has not yet been confirmed. We hypothesize that the significant design differences between preclinical and clinical trials may account for this situation. Using a meta-analysis approach and comparing preclinical with clinical trials, we reveal and discuss preliminary evidence for such design differences...
April 24, 2019: Annals of Neurology
https://read.qxmd.com/read/31018246/impact-of-diagnosis-and-therapy-on-cognitive-function-in-urea-cycle-disorders
#12
Roland Posset, Andrea L Gropman, Sandesh C S Nagamani, Lindsay C Burrage, Jirair K Bedoyan, Derek Wong, Gerard T Berry, Matthias R Baumgartner, Marc Yudkoff, Matthias Zielonka, Georg F Hoffmann, Peter Burgard, Andreas Schulze, Shawn E McCandless, Angeles Garcia-Cazorla, Jennifer Seminara, Sven F Garbade, Stefan Kölker
OBJECTIVE: Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs. METHODS: This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing with a cumulative follow-up of 702 patient-years. RESULTS: The mean cognitive standard deviation score (cSDS) was lower in symptomatic than in asymptomatic (p<0...
April 24, 2019: Annals of Neurology
https://read.qxmd.com/read/31004438/extraciliary-roles-of-the-ciliopathy-protein-jbts17-in-mitosis-and-neurogenesis
#13
Hyowon Hong, Kwangsic Joo, Sang Min Park, Jimyung Seo, Min Hwan Kim, EunBie Shin, Hae Il Cheong, Jeong Ho Lee, Joon Kim
OBJECTIVE: JBTS17 is a major gene mutated in ciliopathies such as Joubert syndrome and oral-facial-digital syndrome type VI. Most patients with loss of function mutations in JBTS17 exhibit cerebellar vermis hypoplasia and brain stem malformation. However, some patients with JBTS17 mutations show microcephaly and abnormal gyration. We examined potential roles of JBTS17 in neurogenesis to understand the pathological mechanism of JBTS17-related cortical abnormalities. METHODS: We examined subcellular localization and cell cycle-dependent expression of JBTS17 proteins using anti-JBTS17 antibodies and JBTS17 expression vectors...
April 20, 2019: Annals of Neurology
https://read.qxmd.com/read/30990912/meta-analyses-identify-differentially-expressed-micrornas-in-parkinson-s-disease
#14
Jessica Schulz, Petros Takousis, Inken Wohlers, Ivie O G Itua, Valerija Dobricic, Gerta Rücker, Harald Binder, Lefkos Middleton, John P A Ioannidis, Robert Perneczky, Lars Bertram, Christina M Lill
OBJECTIVE: MicroRNA-mediated (dys)regulation of gene expression has been implicated in Parkinson's disease (PD), although results of microRNA expression studies remain inconclusive. We aimed to identify microRNAs that show consistent differential expression across all published expression studies in PD. METHODS: We performed a systematic literature search on microRNA expression studies in PD and extracted data from eligible publications. After stratification for brain, blood, and cerebrospinal fluid (CSF)-derived specimen we performed meta-analyses across microRNAs assessed in three or more independent datasets...
April 16, 2019: Annals of Neurology
https://read.qxmd.com/read/30980560/doac-vs-vka-after-recent-ischemic-stroke-in-patients-with-atrial-fibrillation
#15
David J Seiffge, Maurizio Paciaroni, Duncan Wilson, Masatoshi Koga, Kosmas Macha, Manuel Cappellari, Sabine Schaedelin, Clare Shakeshaft, Masahito Takagi, Georgios Tsivgoulis, Bruno Bonetti, Bernd Kallmünzer, Shoji Arihiro, Andrea Alberti, Alexandros A Polymeris, Gareth Ambler, Sohei Yoshimura, Michele Venti, Leo H Bonati, Keith W Muir, Hiroshi Yamagami, Sebastian Thilemann, Riccardo Altavilla, Nils Peters, Manabu Inoue, Tobias Bobinger, Giancarlo Agnelli, Martin M Brown, Shoichiro Sato, Monica Acciarresi, Hans Rolf Jager, Paolo Bovi, Stefan Schwab, Philippe Lyrer, Valeria Caso, Kazunori Toyoda, David J Werring, Stefan T Engelter, Gian Marco De Marchis
OBJECTIVE: We compared outcomes after treatment with direct oral anticoagulants (DOAC) and Vitamin-K antagonists (VKA) in patients with atrial fibrillation (AF) and a recent cerebral ischemia. METHODS: We conducted an individual patient data analysis of 7 prospective cohort studies. We included patients with AF and a recent cerebral ischemia (<3 months before starting oral anticoagulation) and a minimum follow-up of 3 months. We analyzed the association between type of anticoagulation (DOAC vs...
April 13, 2019: Annals of Neurology
https://read.qxmd.com/read/30977154/neurology-bedside-rounding-if-osler-were-a-neurologist-now
#16
Jacqueline M Schulman, Shamik Bhattacharyya, Tracey A Milligan
Inpatient rounding as a team is an essential part of patient care at academic hospitals and remains a tradition in the field of medicine since its introduction in the 17th century. The style of rounding, however, has shifted from the bedside to the hallway and conference room. The use of the common styles of rounding has not been assessed within neurology and best practices are unclear. In this review, we outline the common methods of rounding, the changes in rounding culture over time, and the evidence for the various styles of rounding...
April 11, 2019: Annals of Neurology
https://read.qxmd.com/read/30973967/a-hexanucleotide-repeat-modifies-expressivity-of-x-linked-dystonia-parkinsonism
#17
Ana Westenberger, Charles Jourdan Reyes, Gerard Saranza, Valerija Dobricic, Henrike Hanssen, Aloysius Domingo, Björn-Hergen Laabs, Susen Schaake, Jelena Pozojevic, Aleksandar Rakovic, Karen Grütz, Kimberly Begemann, Uwe Walter, Dirk Dressler, Peter Bauer, Arndt Rolfs, Alexander Münchau, Frank J Kaiser, Laurie J Ozelius, Roland Dominic Jamora, Raymond L Rosales, Cid Czarina E Diesta, Katja Lohmann, Inke R König, Norbert Brüggemann, Christine Klein
OBJECTIVE: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)n repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP. METHODS: We genotyped the hexanucleotide repeat in 355 XDP patients and correlated the repeat number (RN) with: AAO (n=295), initial clinical manifestation (n=294), site of dystonia onset (n=238), disease severity (n=28), and cognitive function (n=15)...
April 11, 2019: Annals of Neurology
https://read.qxmd.com/read/30973966/tmem106b-effect-on-cognition-in-parkinson-s-disease-and-frontotemporal-dementia
#18
Thomas F Tropea, Jordan Mak, Michael H Guo, Sharon X Xie, Eunran Suh, Jacqueline Rick, Andrew Siderowf, Daniel Weintraub, Murray Grossman, David Irwin, David A Wolk, John Q Trojanowski, Vivianna Van Deerlin, Alice S Chen-Plotkin
OBJECTIVE: Common variants near TMEM106B associate with risk of developing frontotemporal dementia (FTD). Emerging evidence suggests a role for TMEM106B in neurodegenerative processes beyond FTD. The objective of this study is to evaluate the effect of TMEM106B genotype on cognitive decline across multiple neurogenerative diseases. METHODS: 870 subjects with diagnoses of Parkinson's disease (PD, N=179), FTD (N=179), Alzheimer's disease (AD, N=300), or memory-predominant mild cognitive impairment (MCI, N=75), and neurologically-normal control subjects (NC, N=137) were followed longitudinally at the University of Pennsylvania (UPenn)...
April 11, 2019: Annals of Neurology
https://read.qxmd.com/read/30973965/flow-diversion-for-treatment-of-intracranial-aneurysms-mechanism-implications
#19
Melissa Mj Chua, Luke Silveira, Justin Moore, Vitor M Pereira, Ajith J Thomas, Adam A Dmytriw
Flow diverters are new-generation stents that have recently garnered a large amount of interest for use in treatment of intracranial aneurysms. Flow diverters reduce blood flow into the aneurysm, with redirection along the path of the parent vessel. Flow stagnation into the aneurysm and well as neck coverage with subsequent endothelialization are the important synergistic mechanisms by which the therapy acts. Several studies have examined the mechanisms by which flow diverters subsequently lead to aneurysm occlusion...
April 11, 2019: Annals of Neurology
https://read.qxmd.com/read/30945774/schwann-cell-transcript-biomarkers-for-hereditary-neuropathy-skin-biopsies
#20
John Svaren, John J Moran, Xingyao Wu, Riccardo Zuccarino, Chelsea Bacon, Yunhong Bai, Raghu Ramesh, Laurie Gutmann, Daniel M Anderson, Derek Pavelec, Michael E Shy
OBJECTIVE: Charcot-Marie-Tooth disease (CMT) is most commonly caused by duplication of a chromosomal segment surrounding Peripheral Myelin Protein 22, or PMP22 gene, which is classified as CMT1A. Several candidate therapies reduce Pmp22 mRNA levels in CMT1A rodent models, but development of biomarkers for clinical trials in CMT1A is a challenge given its slow progression and the difficulty in obtaining nerve samples. Quantitative PCR measurements of PMP22 mRNA in dermal nerves were performed using skin biopsies in human clinical trials for CMT1A, but this approach did not show increased PMP22 mRNA in CMT1A patients compared to controls...
April 4, 2019: Annals of Neurology
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