Annals of Neurology

Brad Manor, Junhong Zhou, On-Ye Lo, Hao Zhu, Wanting Yu, Ross Zafonte, Lewis A Lipsitz, Thomas G Travison, Alvaro Pascual-Leone
OBJECTIVE: Symptomatic head trauma associated with American-style football (ASF) has been linked to brain pathology, along with physical and mental distress in later life. Still, the longer-term effects of such trauma on objective metrics of cognitive-motor function remain poorly understood. We hypothesized that ASF-related symptomatic head trauma would predict worse gait performance, particularly during dual task conditions (i.e., walking while performing an additional cognitive task), in later life...
November 6, 2019: Annals of Neurology
Karen K Chung, Daniel Altmann, Frederik Barkhof, Katherine Miszkiel, Peter A Brex, Jonathan O'Riordan, Michael Ebner, Ferran Prados, M Jorge Cardoso, Tom Vercauteren, Sebastien Ourselin, Alan Thompson, Olga Ciccarelli, Declan T Chard
OBJECTIVE: Clinical outcomes in multiple sclerosis (MS) are highly variable. We aim to determine the long-term clinical outcomes in MS, and to identify early prognostic features of these outcomes. METHODS: 132 people presenting with a clinically isolated syndrome (CIS) were prospectively recruited between 1984-87, and followed up clinically and radiologically 1, 5, 10, 14, 20 and now 30 years later. All available notes and magnetic resonance imaging (MRI) scans were reviewed, and MS was defined according to the 2010 McDonald criteria...
November 6, 2019: Annals of Neurology
James L Bernat
No abstract text is available yet for this article.
November 5, 2019: Annals of Neurology
Willemijn S van Erp, Jan C M Lavrijsen, Pieter E Vos, Steven Laureys, Raymond T C M Koopmans
No abstract text is available yet for this article.
November 1, 2019: Annals of Neurology
Nadia Adotevi, Ewa Lewczuk, Huayu Sun, Suchitra Joshi, Natalia Dabrowska, Sarah Shan, John Williamson, Jaideep Kapur
OBJECTIVE: Generalized convulsive status epilepticus is associated with high mortality. We tested whether AMPA receptor plasticity plays a role in sustaining seizures, seizure generalization, and mortality observed during focal onset status epilepticus. We also determined whether modified AMPA receptors generated during status epilepticus could be targeted with a drug. METHODS: Electrically induced status epilepticus was characterized by EEG and behavior in GluA1-knockout mice and in transgenic mice with selective knockdown of the GluA1 subunit in hippocampal principal neurons...
November 1, 2019: Annals of Neurology
S Prins, A Zhuparris, G J Groeneveld
No abstract text is available yet for this article.
November 1, 2019: Annals of Neurology
Inge M W Verberk, Charlotte E Teunissen, Wiesje M Van der Flier
No abstract text is available yet for this article.
November 1, 2019: Annals of Neurology
Lynne Krohn, Tuğba Nur Öztürk, Benoît Vanderperre, Bouchra Ouled Amar Bencheikh, Jennifer A Ruskey, Sandra B Laurent, Dan Spiegelman, Ronald B Postuma, Isabelle Arnulf, Michele T M Hu, Yves Dauvilliers, Birgit Högl, Ambra Stefani, Christelle Charley Monaca, Giuseppe Plazzi, Elena Antelmi, Luigi Ferini-Strambi, Anna Heidbreder, Uladzislau Rudakou, Valérie Cochen De Cock, Peter Young, Pavlina Wolf, Petra Oliva, Xiaokui Kate Zhang, Lior Greenbaum, Christopher Liong, Jean-François Gagnon, Alex Desautels, Sharon Hassin-Baer, Jacques Y Montplaisir, Nicolas Dupré, Guy A Rouleau, Edward A Fon, Jean François Trempe, Guillaume Lamoureux, Roy N Alcalay, Ziv Gan-Or
OBJECTIVE: The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome-wide association studies (GWAS) of Parkinson disease (PD). We aimed to identify the specific disease-associated variants in this locus, and their potential implications. METHODS: Full sequencing of TMEM175/GAK/DGKQ, followed by genotyping of specific associated variants was performed in PD (n=1,575) and rapid eye movement (REM)-sleep behavior disorder (RBD) patients (n=533) and in controls (n=1,583)...
October 28, 2019: Annals of Neurology
Clifford B Saper
No abstract text is available yet for this article.
October 28, 2019: Annals of Neurology
Joseph C Masdeu
No abstract text is available yet for this article.
October 28, 2019: Annals of Neurology
Fadi Aeed, Tal Shnitzer, Ronen Talmon, Yitzhak Schiller
OBJECTIVE: To investigate the network dynamics mechanisms underlying differential initiation of epileptic inter-ictal spikes and seizures. METHODS: We performed combined in-vivo two-photon calcium imaging from different targeted neuronal subpopulations and extracellular electrophysiological recordings during 4-aminopyridine induced neocortical spikes and seizures. RESULTS: Both spikes and seizures were associated with intense synchronized activation of excitatory layer-2/3 pyramidal neurons (PNs) and to a lesser degree layer-4 neurons, as well as inhibitory parvalbumin-expressing interneurons...
October 28, 2019: Annals of Neurology
Colin A Ellis, Samuel F Berkovic, Michael P Epstein, Ruth Ottman
OBJECTIVE: Previous studies have observed that epilepsy risk is higher among offspring of affected women than offspring of affected men. We tested whether this "maternal effect" was present in familial epilepsies, which are enriched for genetic factors that contribute to epilepsy risk. METHODS: We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsy using three methods: (1) "downward-looking" analysis, comparing the rate of epilepsy in offspring of affected women versus men; (2) "upward-looking" analysis, comparing the rate of the epilepsy among mothers versus fathers of affected individuals; (3) lineage analysis, comparing the the proportion of affected individuals with family history of epilepsy on the maternal versus paternal side...
October 21, 2019: Annals of Neurology
Stuart J McCarter, John C Feemster, Grace M Tabatabai, David J Sandness, Paul C Timm, Allison R McCarter, Heather N Talley, Mithri R Junna, Rodolfo Savica, Wolfgang Singer, Elizabeth A Coon, Eduardo E Benarroch, Keith A Josephs, Bradley F Boeve, Michael H Silber, Erik K St Louis
Accurate antemortem diagnosis of Parkinsonism is primarily based on clinical evaluation with limited biomarkers. We evaluated the diagnostic utility of quantitative REM sleep without atonia analysis in the submentalis and anterior tibialis muscles in parkinsonian patients (53 synucleinopathy, 24 tauopathy). Receiver-operating characteristic curves determined REM sleep without atonia cutoffs distinguishing synucleinopathies from tauopathies. Elevated submentalis muscle activity was highly sensitive (70-77%) and specific (95-100%) distinguishing synucleinopathy from tauopathy...
October 17, 2019: Annals of Neurology
Julie W Dreier, Carsten B Pedersen, Christiane Gasse, Jakob Christensen
OBJECTIVE: To examine if prior suicidal behavior and familial predisposition to psychiatric disorders modify the association between antiepileptic drug use and completed suicide. METHODS: Using the Danish National Prescription Register, we identified all incident users of antiepileptic drugs aged 15 years or older in Denmark between July 1997 and December 2015. We carried out a nested case-control study and defined exposure to antiepileptic drugs at the index date (i...
October 17, 2019: Annals of Neurology
Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer
OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort. METHODS: Phenotypic and molecular data were analyzed on patients recruited through an international collaborative study. RESULTS: We ascertained 135 patients from 128 unrelated families. Ninety-three of 135 (69%) had causative variants (42/55 previously reported) across 23 genes, including 9 novel EIMFS genes: de novo dominant GABRA1, GABRB1, ATP1A3; X-linked CDKL5, PIGA; and recessive ITPA, AIMP1, KARS, WWOX...
October 16, 2019: Annals of Neurology
Bryan D James, Robert S Wilson, Ana W Capuano, Patricia A Boyle, Raj C Shah, Melissa Lamar, E Wesley Ely, David A Bennett, Julie A Schneider
OBJECTIVE: To test the hypothesis that Alzheimer's disease and related neuropathologies contribute to the association between hospitalization and cognitive decline in old age. METHODS: As part of a longitudinal clinical-pathologic cohort study, 526 older persons (mean age at death=90.9, 71% female) without dementia at baseline completed annual cognitive testing and were autopsied at death. Hospitalization information was obtained from linked Medicare claims records...
October 15, 2019: Annals of Neurology
Juho Joutsa, Ludy C Shih, Michael D Fox
OBJECTIVE: Holmes' tremor is a debilitating movement disorder with limited treatment options. Lesions causing Holmes' tremor can occur in multiple different brain locations, leaving the neuroanatomical substrate unclear. Here we test whether lesion locations that cause Holmes' tremor map to a connected brain circuit and whether this circuit might serve as a useful therapeutic target. METHODS: Case reports of Holmes' tremor caused by focal brain lesions were identified through a systematic literature search...
October 15, 2019: Annals of Neurology
John Vissing, Katherine Johnson, Ana Töpf, Shahriar Nafissi, Jordi Díaz-Manera, Vanessa M French, Roland F Schindler, Padmini Sarathchandra, Nicoline Løkken, Susanne Rinné, Max Freund, Niels Decher, Thomas Müller, Morten Duno, Thomas Krag, Thomas Brand, Volker Straub
OBJECTIVE: The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cAMP signaling. Besides gastric cancer, no disease association has been described. We here describe a new muscular dystrophy associated with this gene. METHODS: 1,500 patients with unclassified limb girdle weakness or hyperCKemia were screened for pathogenic POPDC3 variants. Five patients carrying POPDC3 variants were examined by muscle MRI, muscle biopsy and cardiac examination...
October 14, 2019: Annals of Neurology
Marlene Bönstrup, Lutz Krawinkel, Robert Schulz, Bastian Cheng, Jan Feldheim, Götz Thomalla, Leonardo G Cohen, Christian Gerloff
OBJECTIVE: The majority of patients with stroke survive the acute episode and live with enduring disability. Effective therapies to support recovery of motor function after stroke are yet to be developed. Key to this development is the identification of neurophysiologic signals that mark recovery and are suitable and susceptible to interventional therapies. Movement preparatory low-frequency oscillations (LFOs) play a key role in cortical control of movement. Recent animal data point to a mechanistic role of motor cortical LFOs in stroke motor deficits and demonstrate neuromodulation intervention with therapeutic benefit...
October 11, 2019: Annals of Neurology
Solmaz Yazdani, Daniela Mariosa, Niklas Hammar, John Andersson, Caroline Ingre, Göran Walldius, Fang Fang
OBJECTIVE: To assess the associations of several blood immune biomarkers with the future risks of amyotrophic lateral sclerosis and Parkinson disease in a prospective cohort study with 20 years of follow-up. METHODS: The Swedish Apolipoprotein-Related Mortality Risk study is a longitudinal cohort study including 812,073 participants with repeated blood biomarker measurements between 1985 and 1996 and a follow-up until 2011. Using a Cox model, we first estimated hazard ratios of amyotrophic lateral sclerosis and Parkinson disease in relation to leukocytes, immunoglobulin G, haptoglobin, and uric acid...
October 11, 2019: Annals of Neurology
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