Valentina Escott-Price, Amanda J. Myers, Matt Huentelman, John Hardy September 3, 2017

Previous estimates of the utility of polygenic risk score analysis for the prediction of Alzheimer disease have given area under the curve (AUC) estimates of <80%. However, these have been based on the genetic analysis of clinical case–control series. Here, we apply the same analytic approaches to a pathological case–control series and show a predictive AUC of 84%. We suggest that this analysis has clinical utility and that there is limited room for further improvement using genetic data. Ann Neurol 2017;82:311–314.

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Maria Centeno, Tim M. Tierney, Suejen Perani, Elhum A. Shamshiri, Kelly St Pier, Charlotte Wilkinson, Daniel Konn, Serge Vulliemoz, Frédéric Grouiller, Louis Lemieux, Ronit M. Pressler, Christopher A. Clark, J. Helen Cross, David W. Carmichael September 3, 2017

Objective

Surgical treatment in epilepsy is effective if the epileptogenic zone (EZ) can be correctly localized and characterized. Here we use simultaneous electroencephalography–functional magnetic resonance imaging (EEG-fMRI) data to derive EEG-fMRI and electrical source imaging (ESI) maps. Their yield and their individual and combined ability to (1) localize the EZ and (2) predict seizure outcome were then evaluated.

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Ugur Uygunoglu, Burcu Zeydan, Yesim Ozguler, Serdal Ugurlu, Emire Seyahi, Naci Kocer, Civan Islak, Kejal Kantarci, Sabahattin Saip, Aksel Siva, Orhun H. Kantarci September 3, 2017

Objective

To describe the clinical and distinctive imaging features of myelopathy associated with Behçet’s disease (BD).

Methods

We evaluated the records of patients meeting the following criteria: (1) fulfillment of the International Study Group criteria for BD; (2) clinically suggestive of myelopathy; (3) simultaneous spinal cord and brain magnetic resonance images (MRIs) within 1 month of acute worsening of myelopathy; and (4) follow-up duration ≥ 1 year after initial MRI evaluation.

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Kayla MD Cornett, Manoj P Menezes, Rosemary R Shy, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Timothy Estilow, Sabrina W Yum, Trupti Bhandari, Francesco Muntoni, Matilde Laura, Mary M Reilly, Richard S Finkel, Kate J Eichinger, David N Herrmann, Paula Bray, Mark Halaki, Michael E Shy, Joshua Burns, September 3, 2017

Abstract

Objective: To determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth disease (CMT).

Methods: 206 (103 female) participants aged 3-20 years enrolled in the Inherited Neuropathies Consortium were assessed at baseline and 2-years.

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Elodie Laridan, Frederik Denorme, Linda Desender, Olivier François, Tommy Andersson, Hans Deckmyn, Karen Vanhoorelbeke, Simon F. Meyer September 3, 2017

Objective

Neutrophil extracellular traps (NETs) have been shown to promote thrombus formation. Little is known about the exact composition of thrombi that cause ischemic stroke. In particular, no information is yet available on the presence of NETs in cerebral occlusions. Such information is, however, essential to improve current thrombolytic therapy with tissue plasminogen activator (t-PA).

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Jun Huang, Jianping Song, Meijie Qu, Yang Wang, Qinzhu An, Yaying Song, Wei Yan, Bingshun Wang, Xiaojin Wang, Song Zhang, Xi Chen, Bing Zhao, Peixi Liu, Tongyi Xu, Zhijun Zhang, David A. Greenberg, Yongting Wang, Pingjin Gao, Wei Zhu, Guo-Yuan Yang September 3, 2017

Abstract

Objectives: Brain arteriovenous malformations (AVMs) are the most common cause of non-traumatic intracerebral hemorrhage in young adults. The genesis of brain AVM remains enigmatic. We investigated microRNA (miRNA) expression and its contribution to the pathogenesis of brain AVMs.

Methods: We used a large-scale miRNA analysis on 16 samples including AVMs, hemangioblastoma, and controls to identify a distinct AVM miRNA signature.

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Ahmed A. Hawash, Andrew A. Voss, Mark M. Rich September 3, 2017

Abstract

Objective: Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes involuntary firing of muscle action potentials (myotonia), producing muscle stiffness. The excitatory events that trigger myotonic action potentials in the absence of stabilizing ClC-1 current are not fully understood.

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Bernhard Gesslbauer, Laura A. Hruby, Aidan D. Roche, Dario Farina, Roland Blumer, Oskar C. Aszmann September 3, 2017

ABSTRACT

Objective: Axons travelling within the brachial plexus are responsible for the dexterous control of human arm and hand movements. Despite comprehensive knowledge on the topographical anatomy of nerves innervating the human upper limb, the definite quantity of sensory and motor axons within this neural network remains elusive.

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Ruthger Righart, Viola Biberacher, Laura E Jonkman, Roel Klaver, Paul Schmidt, Dorothea Buck, Achim Berthele, Jan S Kirschke, Claus Zimmer, Bernhard Hemmer, Jeroen JG Geurts, Mark Mühlau September 3, 2017

Abstract

Objective

In multiple sclerosis, neuropathological studies have shown widespread changes in the cerebral cortex. In vivo imaging is critical since the histopathological substrate of most measurements is unknown.

Method

Using a novel MRI analysis technique, based on the ratio of T1- and T2-weighted signal intensities, we studied the cerebral cortex of a large cohort of patients in early stages of multiple sclerosis.

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