Annals of Neurology

Guy M Lenk, Paymaan Jafar-Nejad, Sophie F Hill, Lucas D Huffman, Corrine E Smolen, Jacy L Wagnon, Hayley Petit, Wenxi Yu, Julie Ziobro, Kritika Bhatia, Jack Parent, Roman J Giger, Frank Rigo, Miriam H Meisler
OBJECTIVE: SCN8A encephalopathy is a Developmental and Epileptic Encephalopathy (DEE) caused by de novo, gain-of-function mutations of sodium channel Nav 1.6 that result in neuronal hyperactivity. Affected individuals exhibit early-onset drug-resistant seizures, developmental delay and cognitive impairment. This study was carried out to determine whether reducing the abundance of the Scn8a transcript with an anti-sense oligonucleotide (ASO) would delay seizure onset and prolong survival in a mouse model of SCN8A encephalopathy...
January 14, 2020: Annals of Neurology
Mattias Danielson, Andreas Wiklund, Fredrik Granath, Kaj Blennow, Souren Mkrtchian, Bengt Nellgård, Jonatan Oras, Malin Jonsson Fagerlund, Anna Granström, Anna Schening, Lars S Rasmussen, Helena Erlandsson Harris, Henrik Zetterberg, Sven-Erik Ricksten, Lars I Eriksson
OBJECTIVE: Long-term cognitive decline is an adverse outcome after major surgery associated with increased risk for mortality and morbidity. We studied the cerebrospinal fluid (CSF) and serum biochemical inflammatory response to a standardized orthopedic surgical procedure and the possible association with long-term changes in cognitive function. We hypothesized that the CSF inflammatory response pattern after surgery would differ in patients having long-term cognitive decline defined as a composite cognitive z-score ≥1...
January 12, 2020: Annals of Neurology
Joanne Trinh, Christine Klein
No abstract text is available yet for this article.
January 11, 2020: Annals of Neurology
Sripadh Sharma, Igal Ifergan, Jonathan E Kurz, Robert A Linsenmeier, Dan Xu, John G Cooper, Stephen D Miller, John A Kessler
OBJECTIVE: There are currently no definitive disease modifying therapies for traumatic brain injury (TBI). In this study, we present a strong therapeutic candidate for TBI, immunomodulatory nanoparticles (IMPs), which ablate a specific subset of hematogenous monocytes (hMos). We hypothesized that prevention of infiltration of these cells into brain acutely after TBI would attenuate secondary damage and preserve anatomic and neurologic function. METHODS: IMPs, composed of FDA-approved 500nm carboxylated-poly(lactic-co-glycolic) acid, were infused intravenously into wild-type C57BL/6 mice following two different models of experimental TBI, controlled-cortical impact (CCI) and closed head injury (CHI)...
January 10, 2020: Annals of Neurology
Rick van der Vliet, Ruud W Selles, Eleni-Rosalina Andrinopoulou, Rinske Nijland, Gerard M Ribbers, Maarten A Frens, Carel Meskers, Gert Kwakkel
OBJECTIVE: Spontaneous recovery is an important determinant of upper extremity recovery after stroke, and has been described by the 70% proportional recovery rule for the Fugl-Meyer motor upper extremity (FM-UE) scale. However, this rule is criticized for overestimating the predictability of FM-UE recovery. Our objectives were to (1) develop a longitudinal mixture model of FM-UE recovery, (2) identify FM-UE recovery subgroups, and (3) internally validate the model predictions. METHODS: We developed an exponential recovery function with the following parameters: subgroup assignment probability, proportional recovery coefficient rk , time constant in weeks τk , and distribution of the initial FM-UE scores...
January 10, 2020: Annals of Neurology
Vanessa Hull, Yan Wang, Travis Burns, Sheng Zhang, Sarah Sternbach, Jennifer McDonough, Fuzheng Guo, David Pleasure
Marked elevation in the brain concentration of N-acetyl-L-aspartate (NAA) is a characteristic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligodendroglial NAA cleaving enzyme aspartoacylase. We now demonstrate that inhibiting NAA synthesis by intracisternal administration of a locked nucleic acid antisense oligonucleotide to young adult aspartoacylase-deficient mice reverses their pre-existing ataxia and diminishes cerebellar and thalamic vacuolation and Purkinje cell dendritic atrophy...
January 10, 2020: Annals of Neurology
Alberto Benussi, Mario Grassi, Fernando Palluzzi, Giacomo Koch, Vincenzo Di Lazzaro, Raffaele Nardone, Valentina Cantoni, Valentina Dell'Era, Enrico Premi, Alessandro Martorana, Francesco di Lorenzo, Sonia Bonnì, Federico Ranieri, Fioravante Capone, Gabriella Musumeci, Maria Sofia Cotelli, Alessandro Padovani, Barbara Borroni
OBJECTIVE: Transcranial Magnetic Stimulation (TMS) has been suggested as a reliable, non-invasive, and inexpensive tool for the diagnosis of neurodegenerative dementias. In this study we assessed the classification performance of TMS parameters in the differential diagnosis of common neurodegenerative disorders, including Alzheimer's disease (AD), dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD). METHODS: We performed a multicenter study enrolling patients referred to four dementia centers in Italy, in accordance with the Standards for Reporting of Diagnostic Accuracy...
January 10, 2020: Annals of Neurology
Linjing Zhang, Lu Tang, Tao Huang, Dongsheng Fan
OBJECTIVES: Observational studies have indicated that life course adiposity is associated with amyotrophic lateral sclerosis (ALS). However, whether such an association reflects causality remains unclear. We aimed to determine whether life course adiposity, such as birth weight (BW), childhood body mass index (BMI), adult BMI, body fat percentage (BF%), and waist-to-hip ratio (WHR), have causal effects on ALS. METHODS: Single nucleotide polymorphisms (SNPs) significantly associated with life course adiposity were used as instrumental variables to estimate the causal effects on ALS...
January 9, 2020: Annals of Neurology
Ying Zhou, Jinsong Cai, Wenhua Zhang, Xiaoxian Gong, Shenqiang Yan, Kemeng Zhang, Zhongyu Luo, Jianzhong Sun, Quan Jiang, Min Lou
OBJECTIVE: Aging is a major risk factor for numerous neurological disorders and the mechanisms underlying brain aging remain elusive. Recent animal studies demonstrated tight relationship between impairment of glymphatic pathway, meningeal lymphatic vessels and aging. However, the relationship in human brain remains uncertain. METHODS: In this observational cohort study, patients underwent MRI before and at multiple time points after intrathecal administration of contrast agent...
January 9, 2020: Annals of Neurology
Florin Despa, Larry B Goldstein, Geert Jan Biessels
No abstract text is available yet for this article.
January 9, 2020: Annals of Neurology
Amrou Sarraj, Ameer E Hassan, James Grotta, Clark Sitton, Gary Cutter, Chunyan Cai, Peng R Chen, Bita Imam, Deep Pujara, Ashish Arora, Sujan Reddy, Kaushik Parsha, Roy F Riascos, Nirav Vora, Michael Abraham, Randall Edgell, Frank Hellinger, Diogo C Haussen, Spiros Blackburn, Haris Kamal, Andrew D Barreto, Sheryl Martin-Schild, Maarten Lansberg, Rishi Gupta, Sean Savitz, Gregory W Albers
OBJECTIVE: The primary imaging modalities used to select patients for endovascular thrombectomy (EVT) are non-contrast CT(CT) and CT-perfusion(CTP). However, their relative utility is uncertain. We prospectively assessed CT and CTP concordance/discordance and correlated the imaging profiles on both with EVT treatment decisions and clinical outcomes. METHODS: A phase-II multicenter, prospective-cohort study of large vessel occlusions who presented up-to-24hours from last-known-well was conducted...
January 9, 2020: Annals of Neurology
Clifford B Saper
No abstract text is available yet for this article.
January 7, 2020: Annals of Neurology
Hans-Christian Kornau, Jakob Kreye, Alexander Stumpf, Yuko Fukata, Daniel Parthier, Rosanna P Sammons, Barbara Imbrosci, Sarah Kurpjuweit, Alexander B Kowski, Masaki Fukata, Harald Prüss, Dietmar Schmitz
OBJECTIVE: Leucine-rich glioma-inactivated 1 (LGI1) encephalitis is the second most common autoimmune encephalopathy, but insight into the intrathecal B cell autoimmune response including clonal relationships, isotype distribution, frequency and pathogenic effects of single LGI1 antibodies has remain limited. METHODS: We cloned, expressed and tested antibodies from 90 antibody-secreting cells (ASCs) and B cells from the CSF of several patients with LGI1 encephalitis...
January 3, 2020: Annals of Neurology
Alexander M Kollikowski, Michael K Schuhmann, Bernhard Nieswandt, Wolfgang Müllges, Guido Stoll, Mirko Pham
OBJECTIVE: Bridging the gap between experimental stroke and patients by ischemic blood probing during the hyperacute stage of vascular occlusion is crucial to assess the role of inflammation in human stroke and for the development of adjunct treatments beyond recanalization. METHODS: We prospectively observed 151 consecutive ischemic stroke patients with embolic large vessel occlusion of the anterior circulation who underwent mechanical thrombectomy. In all these patients, we attempted microcatheter aspiration of three different arterial blood samples 1) within the core of the occluded vascular compartment, controlled by 2) carotid and 3) femoral samples obtained under physiological flow conditions...
January 3, 2020: Annals of Neurology
Michael J Darrow, Tabarak M Mian, Miranda Torres, Zainab Haider, Tanya Danaphongse, Robert L Rennaker, Michael P Kilgard, Seth A Hays
OBJECTIVE: Sensory dysfunction is a common consequence of many forms of neurological injury, including stroke and nerve damage. Rehabilitative paradigms that incorporate sensory retraining can provide modest benefits, but the majority of patients are left with lasting sensory loss. We have developed a novel strategy that uses closed-loop vagus nerve stimulation (VNS) paired with tactile rehabilitation to enhance synaptic plasticity and facilitate recovery of sensory function. METHODS: A clinical case report provides initial evidence that a similar implementation of closed-loop VNS paired with a tactile rehabilitation regimen could improve recovery of somatosensory function...
December 25, 2019: Annals of Neurology
Robert Baumhefner, Claude Wasterlain, Shri Mishra, Kolar Murthy
No abstract text is available yet for this article.
December 25, 2019: Annals of Neurology
Vincenzo Provitera, Giuseppe Piscosquito, Fiore Manganelli, Stefania Mozzillo, Giuseppe Caporaso, Annamaria Stancanelli, Ilaria Borreca, Giovanni Di Caprio, Lucio Santoro, Maria Nolano
OBJECTIVE: To describe morphological changes associated with degeneration and regeneration of large fibers in the skin using a model of chronic compression of the median nerve. METHODS: We studied cutaneous innervation in 30 patients with chronic compression of the median nerve at the wrist. Before surgery, we assessed the symptom severity and performed neurography, quantitative sensory testing, and the analysis of nerve morphology and morphometry in skin biopsies from the third digit fingertip...
December 17, 2019: Annals of Neurology
Albert C Ludolph, Johannes Dorst, Jens Dreyhaupt, Jochen H Weishaupt, Jan Kassubek, Ulrike Weiland, Thomas Meyer, Susanne Petri, Andreas Hermann, Alexander Emmer, Julian Grosskreutz, Torsten Grehl, Daniel Zeller, Matthias Boentert, Bertold Schrank, Johannes Prudlo, Andrea S Winkler, Stanislav Gorbulev, Francesco Roselli, Joachim Schuster, Luc Dupuis
OBJECTIVE: Weight loss has been identified as a negative prognostic factor in amyotrophic lateral sclerosis, but there is no evidence whether a high-caloric diet increases survival. Therefore, we sought to evaluate the efficacy of a high-caloric fatty diet (HCFD) with regard to survival. METHODS: A 1:1 randomized, placebo-controlled, parallel-group, double-blinded trial (LIPCAL-ALS study) was conducted between 02/2015 and 09/2018. Patients were followed up 3, 6, 9, 12, 15, and 18 months after randomisation...
December 17, 2019: Annals of Neurology
Rocío N Villar-Quiles, Fabio Catervi, Eva Cabet, Raul Juntas-Morales, Casie A Genetti, Teresa Gidaro, Asuman Koparir, Adnan Yüksel, Sandra Coppens, Nicolas Deconinck, Emma Pierce-Hoffman, Xavière Lornage, Julien Durigneux, Jocelyn Laporte, John Rendu, Norma B Romero, Alan H Beggs, Laurent Servais, Mireille Cossée, Montse Olivé, Johann Böhm, Isabelle Duband-Goulet, Ana Ferreiro
OBJECTIVE: Recently, the ASC-1 complex has been identified as a mechanistic link between ALS and spinal muscular atrophy (SMA), and three mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations. METHODS: Clinical, molecular, histological and MRI studies in 5 families with 7 novel TRIP4 mutations. FACS and Western blot in patient-derived fibroblasts and muscles and in Trip4 knocked-down C2C12 cells...
December 3, 2019: Annals of Neurology
Erik Tilch, Barbara Schormair, Chen Zhao, Aaro V Salminen, Ana Antic Nikolic, Evi Holzknecht, Birgit Högl, Werner Poewe, Cornelius G Bachmann, Walter Paulus, Claudia Trenkwalder, Wolfgang H Oertel, Magdolna Hornyak, Ingo Fietze, Klaus Berger, Peter Lichtner, Christian Gieger, Annette Peters, Bertram Müller-Myhsok, Alexander Hoischen, Juliane Winkelmann, Konrad Oexle
OBJECTIVE: Restless legs syndrome is a frequent neurological disorder with substantial burden on individual wellbeing and public health. Genetic risk loci have been identified but the causatives genes at these loci are largely unknown, so that functional investigation and clinical translation of molecular research data are still inhibited. To identify putatively causative genes we searched for highly significant mutational burden in candidate genes. METHODS: We analyzed 84 candidate genes in 4,649 patients and 4,982 controls by next generation sequencing using molecular inversion probes that targeted mainly coding regions...
December 1, 2019: Annals of Neurology
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