Serum soluble TREM2 as a biomarker for incident dementia: the Hisayama Study
AbstractObjectiveTo investigate the association between serum soluble triggering receptor expressed on myeloid cells 2 (sTREM2), a soluble type of an innate immune receptor expressed on the microglia, and the risk of dementia.MethodsA total of 1,349 Japanese community ‐residents aged 60 and older without dementia were followed prospectively for 10 years (2002‐2012). Serum sTREM2 levels were quantified by using an enzyme‐linked immunosorbent assay and divided into quartiles. Cox proportional hazards model was used to estimate the hazard ratios (HRs) of serum sTREM2 levels on the risk of dementia.ResultsDuring the foll...
Source: Annals of Neurology - November 28, 2018 Category: Neurology Authors: Tomoyuki Ohara, Jun Hata, Masashi Tanaka, Takanori Honda, Hajime Yamakage, Daigo Yoshida, Takayuki Inoue, Yoichiro Hirakawa, Toru Kusakabe, Mao Shibata, Tadashi Teraoka, Takanari Kitazono, Shigenobu Kanba, Noriko Satoh ‐Asahara, Toshiharu Tags: Research Article Source Type: research

Six ‐months assessment of a hand prosthesis with intraneural tactile feedback
This article is protected by copyright. All rights reserved (Source: Annals of Neurology)
Source: Annals of Neurology - November 25, 2018 Category: Neurology Authors: F.M. Petrini, G. Valle, I. Strauss, G. Granata, R. Di Iorio, E. D'Anna, P. Čvančara, M. Mueller, J. Carpaneto, F. Clemente, M. Controzzi, L. Bisoni, C. Carboni, M. Barbaro, F. Iodice, D. Andreu, A. Hiairrassary, J.L. Divoux, C. Ciprian Tags: Research Article Source Type: research

Correction: An extremely severe phenotype attributed to WDR81 nonsense mutations
Annals of Neurology, Volume 84, Issue 5, Page 796-796, November 2018. (Source: Annals of Neurology)
Source: Annals of Neurology - November 21, 2018 Category: Neurology Tags: Correction Source Type: research

Annals of Neurology: Volume 84, Number 5, November 2018
A photomicrograph of HeLa cells expressing amino acids 1 ‐149 of the protein KCTD7 with a mutation (L108M) seen in patients who have progressive myoclonic epilepsy (EPM3) also known as neuronal ceroid lipofuscinosis (CLN14). The mutant protein has an HA tag that has been stained with red fluorescence to localize the protein, revealing red filaments in t he nucleus and in the surrounding cytoplasm. Filament structures are altered by this L108M mutation in the BTB domain of KCTD7. The nucleus of each cell is stained blue. (See Metz et al., pageshttp://dx.doi.org/10.1002/ana.25351766 –780) (Source: Annals of Neurology)
Source: Annals of Neurology - November 21, 2018 Category: Neurology Tags: Cover Image Source Type: research

Issue Information
Annals of Neurology, Volume 84, Issue 5, Page i-vii, November 2018. (Source: Annals of Neurology)
Source: Annals of Neurology - November 21, 2018 Category: Neurology Tags: Issue Information Source Type: research

Final Results of the RHAPSODY trial: A multi ‐center, Phase 2 trial using a continual reassessment method to determine the safety and tolerability of 3K3A‐APC, a Recombinant Variant of Human Activated Protein C, in combination with tissue plasminogen activator, mechanical thrombectomy or both in moderate to severe acute ischemic stroke
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 18, 2018 Category: Neurology Authors: Patrick Lyden, Kent E. Pryor, Christopher S. Coffey, Merit Cudkowicz, Robin Conwit, Ashutosh Jadhav, Robert N. Sawyer, Jan Claassen, Opeolu Adeoye, Shlee Song, Peter Hannon, Natalia S. Rost, Archana Hinduja, Michel Torbey, Jin ‐Moo Lee, C Tags: Research Article Source Type: research

Homozygous splicing mutation in NUP133 causes Galloway –Mowat syndrome
This article is protected by copyright. All rights reserved (Source: Annals of Neurology)
Source: Annals of Neurology - November 14, 2018 Category: Neurology Authors: Atsushi Fujita, Hiroyasu Tsukaguchi, Eriko Koshimizu, Hitoshi Nakazato, Kyoko Itoh, Shohei Kuraoka, Yoshihiro Komohara, Masaaki Shiina, Shohei Nakamura, Mika Kitajima, Yoshinori Tsurusaki, Satoko Miyatake, Kazuhiro Ogata, Kazumoto Iijima, Na Tags: Research Article Source Type: research

Thalamic Strokes that Severely Impair Arousal Extend into the Brainstem
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 12, 2018 Category: Neurology Authors: Joseph Hindman, Mark D. Bowren, Joel Bruss, Brad Wright, Joel C. Geerling, Aaron D. Boes Tags: Brief Communication Source Type: research

Attributable Risk of Alzheimer's Dementia Due to Age ‐Related Neuropathologies
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 12, 2018 Category: Neurology Authors: Patricia A. Boyle, Lei Yu, Sue E. Leurgans, Robert S. Wilson, Ron Brookmeyer, Julie A. Schneider, David A. Bennett Tags: Research Article Source Type: research

Resolving the role of the paramedian thalamus in forebrain arousal mechanisms
Annals of Neurology, Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 12, 2018 Category: Neurology Authors: Nicholas D. Schiff Tags: Invited Commentary Source Type: research

Clinical outcomes depending on acute blood pressure after cerebral hemorrhage
AbstractObjectiveTo determine the association between clinical outcomes and acute systolic blood pressure (SBP) levels achieved after intracerebral hemorrhage (ICH).MethodsEligible patients who were randomized to the Antihypertensive Treatment in Intracerebral Hemorrhage 2 (ATACH ‐2) trial (ClinicalTrials.gov NCT01176565) were divided into 5 groups by 10 ‐mmHg strata of average hourly minimum SBP (
Source: Annals of Neurology - November 12, 2018 Category: Neurology Authors: Kazunori Toyoda, Masatoshi Koga, Haruko Yamamoto, Lydia Foster, Yuko Y Palesch, Yongjun Wang, Nobuyuki Sakai, Takayuki Hara, Chung Y Hsu, Ryo Itabashi, Shoichiro Sato, Mayumi Fukuda, Thorsten Steiner, Byung ‐Woo Yoon, Daniel F Hanley, Adn Tags: Research Article Source Type: research

Biallelic COLGALT1 variants are associated with cerebral small vessel disease
This study aimed to identify novel genes that causeCOL4A1/COL4A2‐related disorders.MethodsWhole exome sequencing was performed in two families with suspectedCOL4A1/COL4A2‐related disorders. We validated the role ofCOLGALT1 variants by constructing a 3D structural model, evaluating ColGalT1 protein expression and ColGalT activity by western blotting and collagen galactosyltransferase assays, and performingin vitro RNA interference and rescue experiments.ResultsExome sequencing demonstrated biallelic variants inCOLGALT1 encoding collagen β (1‐O) galactosyltransferase 1, which was involved in the post‐translation...
Source: Annals of Neurology - November 9, 2018 Category: Neurology Authors: Satoko Miyatake, Sacha Schneeberger, Norihisa Koyama, Kenji Yokochi, Kayo Ohmura, Masaaki Shiina, Harushi Mori, Eriko Koshimizu, Eri Imagawa, Yuri Uchiyama, Satomi Mitsuhashi, Martin C. Frith, Atsushi Fujita, Mai Satoh, Masataka Taguri, Yas Tags: Research Article Source Type: research

Brain ‐State Dependent Stimulation boosts functional recovery following stroke
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Natalie Mrachacz ‐Kersting, Andrew J.T. Stevenson, Helle R. M. Jørgensen, Kåre Eg Severinsen, Susan Aliakbaryhosseinabadi, Ning Jiang, Dario Farina Tags: Research Article Source Type: research

Tocilizumab treatment for new ‐onset refractory status epilepticus
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Jin ‐Sun Jun, Soon‐Tae Lee, Ryul Kim, Kon Chu, Sang Kun Lee Tags: Brief Communication Source Type: research

Magnetic resonance T1w/T2w ratio: A parsimonious marker for Parkinson's disease
AbstractObjectiveNewer MRI techniques have shown promise in capturing early Parkinson's disease (PD) ‐related changes in the substantia nigra pars compacta (SNc), the key pathological loci. Their translational value, however, is hindered by technical complexity and inconsistent results.MethodsA novel yet simple MRI contrast, the T1w/T2w ratio, was used to study 76 PD patients and 70 controls. The T1w/T2w ratio maps were analyzed using both voxel ‐based and region‐of‐interest approaches in normalized space. The sensitivity and specificity of the SN T1w/T2w ratio in discriminating between PD and controls also were as...
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Guangwei Du, Mechelle M. Lewis, Christopher Sica, Lan Kong, Xuemei Huang Tags: Research Article Source Type: research

Switching the manufacturer of antiepileptic drugs is associated with higher risk of seizures: A nationwide study of prescription data in Germany
ObjectiveDespite bioequivalence, the exchangeability of antiepileptic drugs in clinical settings is disputed. Therefore, we investigated the risk for recurrent seizures after switching the manufacturer of the same drug in a large German cohort.MethodsAnonymous patient data from practice neurologists throughout Germany between 2011 and 2016 were collected using the IMS Disease Analyzer database (QuintilesIMS, Frankfurt, Germany). People with epilepsy were included if at least 2 prescriptions within 360 days and 1 within 180 days prior to the index date were available. The cohort was separated into a seizure group and seizur...
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Johannes D. Lang, Karel Kostev, M üjgan Dogan Onugoren, Stephanie Gollwitzer, Wolfgang Graf, Tamara Müller, David G. Olmes, Hajo M. Hamer Tags: Research Article Source Type: research

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy ‐lysosome defect
ObjectiveSeveral small case series identifiedKCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), KCTD protein family members lack predicted channel domains. We sought to translate insight gained from yeast studies to uncover disease mechanisms associated with deficiencies in KCTD7 of unknown function.MethodsNovelKCTD7 variants in new and published patients were assessed for disease causality using genetic analyses, cell ‐based functional assays of ...
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Kyle A. Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart E. Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda D. Haberlandt, Glenn W. Anderson, Esther Leshinsky ‐Silver, Weim Tags: Research Article Source Type: research

Human pegivirus ‐1 associated leukoencephalitis: Clinical and molecular features
We report on 2 adult female patients with fatal leukoencephalitis associated with human pegivirus ‐1 (HPgV‐1) brain infection. Neuroimaging showed inflammatory changes in cerebral white matter. Brain‐derived HPgV‐1 RNA sequences clustered phylogenetically with other pegiviruses despite an 87‐nucleotide deletion in the viral nonstructural (NS)2 gene. Neuropathology disclosed lymphocyte infiltration and gliosis predominantly in brain white matter. HPgV‐1 NS5A antigen was detected in lymphocytes as well as in astrocytes and oligodendrocytes. HPgV‐1 neuroadaptation should be considered in the differential diagnos...
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Erin F. Balcom, Matthew A.L. Doan, William G. Branton, Juan Jovel, Gregg Blevins, Beste Edguer, Tom C. Hobman, Elaine Yacyshyn, Derek Emery, Adrian Box, Frank K.H. van Landeghem, Christopher Power Tags: Brief Communication Source Type: research

Brain ‐State Dependent Stimulation boosts functional recovery following stroke
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Natalie Mrachacz ‐Kersting, Andrew J.T. Stevenson, Helle R. M. Jørgensen, Kåre Eg Severinsen, Susan Aliakbaryhosseinabadi, Ning Jiang, Dario Farina Tags: Research Article Source Type: research

Tocilizumab treatment for new ‐onset refractory status epilepticus
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Jin ‐Sun Jun, Soon‐Tae Lee, Ryul Kim, Kon Chu, Sang Kun Lee Tags: Brief Communication Source Type: research

Magnetic resonance T1w/T2w ratio: A parsimonious marker for Parkinson's disease
AbstractObjectiveNewer MRI techniques have shown promise in capturing early Parkinson's disease (PD) ‐related changes in the substantia nigra pars compacta (SNc), the key pathological loci. Their translational value, however, is hindered by technical complexity and inconsistent results.MethodsA novel yet simple MRI contrast, the T1w/T2w ratio, was used to study 76 PD patients and 70 controls. The T1w/T2w ratio maps were analyzed using both voxel ‐based and region‐of‐interest approaches in normalized space. The sensitivity and specificity of the SN T1w/T2w ratio in discriminating between PD and controls also were as...
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Guangwei Du, Mechelle M. Lewis, Christopher Sica, Lan Kong, Xuemei Huang Tags: Research Article Source Type: research

Switching the manufacturer of antiepileptic drugs is associated with higher risk of seizures: A nationwide study of prescription data in Germany
ObjectiveDespite bioequivalence, the exchangeability of antiepileptic drugs in clinical settings is disputed. Therefore, we investigated the risk for recurrent seizures after switching the manufacturer of the same drug in a large German cohort.MethodsAnonymous patient data from practice neurologists throughout Germany between 2011 and 2016 were collected using the IMS Disease Analyzer database (QuintilesIMS, Frankfurt, Germany). People with epilepsy were included if at least 2 prescriptions within 360 days and 1 within 180 days prior to the index date were available. The cohort was separated into a seizure group and seizur...
Source: Annals of Neurology - November 8, 2018 Category: Neurology Authors: Johannes D. Lang, Karel Kostev, M üjgan Dogan Onugoren, Stephanie Gollwitzer, Wolfgang Graf, Tamara Müller, David G. Olmes, Hajo M. Hamer Tags: Research Article Source Type: research

Reduced brain amyloid burden in elderly patients with narcolepsy type 1
AbstractObjectiveTo determine whether brain amyloid burden in elderly patients with narcolepsy type 1 (NT1) is lower than in controls, and to assess in patients with NT1 the relationships between amyloid burden, cerebral spinal fluid (CSF) markers of Alzheimer's disease (AD), CSF orexin ‐A, and cognitive profile.MethodsCognitive and18F ‐florbetapir‐positron emission tomography (PET) data were compared in patients with NT1 aged ≥65 years (n=23) and in age‐ and sex‐matched controls free of clinical dementia selected from the Alzheimer's Disease Neuroimaging Initiative (ADNI, n=69) and the Multi‐domain Interven...
Source: Annals of Neurology - November 2, 2018 Category: Neurology Authors: Audrey Gabelle, Isabelle Jaussent, Fay çal Ben Bouallègue, Sylvain Lehmann, Régis Lopez, Lucie Barateau, Caroline Grasselli, Carole Pesenti, Delphine Verbizier, Séverine Béziat, Denis Mariano‐Goulart, Bertrand Carlander, Yves Dauvillier Tags: Research Article Source Type: research

Gender Inequities in the MS Community: A Call for Action
Annals of Neurology, Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 2, 2018 Category: Neurology Authors: Emmanuelle Waubant Tags: Letter to the Editor Source Type: research

Fingolimod enhances the efficacy of delayed alteplase administration in acute ischemic stroke by promoting anterograde reperfusion and retrograde collateral flow
ObjectiveThe present study was undertaken to determine the efficacy of coadministration of fingolimod with alteplase in acute ischemic stroke patients in a delayed time window.MethodsThis was a prospective, randomized, open ‐label, blinded endpoint clinical trial, enrolling patients with internal carotid artery or middle cerebral artery proximal occlusion within 4.5 to 6 hours from symptom onset. Patients were randomly assigned to receive alteplase alone or alteplase with fingolimod. All patients underwent pretreatme nt and 24‐hour noncontrast computed tomography (CT)/perfusion CT/CT angiography. The coprimary endpoint...
Source: Annals of Neurology - November 2, 2018 Category: Neurology Authors: De ‐Cai Tian, Kaibin Shi, Zilong Zhu, Jia Yao, Xiaoxia Yang, Lei Su, Sheng Zhang, Meixia Zhang, Rayna J. Gonzales, Qiang Liu, DeRen Huang, Michael F. Waters, Kevin N. Sheth, Andrew F. Ducruet, Ying Fu, Min Lou, Fu‐Dong Shi Tags: Research Article Source Type: research

Gender Inequities in the MS Community: A Call for Action
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 2, 2018 Category: Neurology Authors: Emmanuelle Waubant Source Type: research

Reduced brain amyloid burden in elderly patients with narcolepsy type 1
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 2, 2018 Category: Neurology Authors: Audrey Gabelle, Isabelle Jaussent, Fay çal Ben Bouallègue, Sylvain Lehmann, Régis Lopez, Lucie Barateau, Caroline Grasselli, Carole Pesenti, Delphine Verbizier, Séverine Béziat, Denis Mariano‐Goulart, Bertrand Carlander, Yves Dauvillier Source Type: research

The neural basis of induced phantom limb pain relief
This article is protected by copyright. All rights reserved (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Sanne Kikkert, Melvin Mezue, Jacinta O'Shea, David Henderson ‐Slater, Heidi Johansen‐Berg, Irene Tracey, Tamar R. Makin Tags: Research Article Source Type: research

Genome ‐Wide Meta‐analysis identifies three novel loci associated with stroke
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Rainer Malik, Kristiina Rannikm äe, Matthew Traylor, Marios K Georgakis, Muralidharan Sargurupremraj, Hugh S Markus, Jemma C Hopewell, Stephanie Debette, Cathie LM Sudlow, Martin Dichgans, for the MEGASTROKE consortium and the International Str Tags: Brief Communication Source Type: research

Evidence of dysfunction in the visual association cortex in visual snow syndrome
This article is protected by copyright. All rights reserved (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Ozan Eren, Veronika Rauschel, Ruth Ruscheweyh, Andreas Straube, Christoph J. Schankin Tags: Brief Communication Source Type: research

Listen to your patient: a fiddler's tale
This article is protected by copyright. All rights reserved. (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Rui Ara újo, Bastiaan R. Bloem Tags: Brief Communication Source Type: research

Listen to your patient: a fiddler's tale
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Dr. Rui Ara újo, Prof. Bastiaan R. Bloem Source Type: research

Evidence of dysfunction in the visual association cortex in visual snow syndrome
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Ozan Eren, Veronika Rauschel, Ruth Ruscheweyh, Andreas Straube, Christoph J. Schankin Source Type: research

Genome ‐Wide Meta‐analysis identifies three novel loci associated with stroke
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Rainer Malik, Kristiina Rannikm äe, Matthew Traylor, Marios K Georgakis, Muralidharan Sargurupremraj, Hugh S Markus, Jemma C Hopewell, Stephanie Debette, Cathie LM Sudlow, Martin Dichgans, for the MEGASTROKE consortium and the International Str Source Type: research

The neural basis of induced phantom limb pain relief
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - November 1, 2018 Category: Neurology Authors: Dr. Sanne Kikkert, Dr. Melvin Mezue, Dr. Jacinta O'Shea, David Henderson ‐Slater, Prof. Heidi Johansen‐Berg, Prof. Irene Tracey, Dr. Tamar R. Makin Source Type: research

β2‐adrenoreceptor medications and risk of Parkinson disease
We examined whether confounding by clinical indication for these medications, that is, tremor and smoking‐r elated pulmonary conditions, explained these associations.MethodsIn a large, population ‐based case–control study of United States Medicare beneficiaries in 2009 with diagnosis codes, procedure codes, and prescription data (48,295 incident PD cases, 52,324 controls), we examined the risk of PD in relation to use of selected β antagonists (propranolol, carvedilol, metoprolol), the β2 agonist salbutamol, and other medications used for the same clinical indications (primidone, inhaled corticosteroids...
Source: Annals of Neurology - October 30, 2018 Category: Neurology Authors: Susan Searles Nielsen, Anat Gross, Alejandra Camacho ‐Soto, Allison W. Willis, Brad A. Racette Tags: Research Article Source Type: research

Vagus nerve stimulation modulates the cranial trigeminal autonomic reflex
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - October 26, 2018 Category: Neurology Authors: Maike Moeller, Celina F. Schroeder, Arne May Source Type: research

Meningeal inflammation and cortical demyelination in acute multiple sclerosis
Annals of Neurology,Volume 0, Issue ja, -Not available-. (Source: Annals of Neurology)
Source: Annals of Neurology - October 26, 2018 Category: Neurology Authors: Ryan J. Bevan, Rhian Evans, Lauren Griffiths, Lewis M. Watkins, Mark I. Rees, Roberta Magliozzi, Ingrid Allen, Gavin McDonnell, Rachel Kee, Michelle Naughton, Denise C. Fitzgerald, Richard Reynolds, James W. Neal, Owain W. Howell Source Type: research

Neuroimaging and clinical outcomes of oral anticoagulant –associated intracerebral hemorrhage
ObjectiveWhether intracerebral hemorrhage (ICH) associated with non –vitamin K antagonist oral anticoagulants (NOAC‐ICH) has a better outcome compared to ICH associated with vitamin K antagonists (VKA‐ICH) is uncertain.MethodsWe performed a systematic review and individual patient data meta ‐analysis of cohort studies comparing clinical and radiological outcomes between NOAC‐ICH and VKA‐ICH patients. The primary outcome measure was 30‐day all‐cause mortality. All outcomes were assessed in multivariate regression analyses adjusted for age, sex, ICH location, and intraventricul ar hemorrhage extension.Res...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Georgios Tsivgoulis, Duncan Wilson, Aristeidis H. Katsanos, Jo ão Sargento‐Freitas, Cláudia Marques‐Matos, Elsa Azevedo, Tomohide Adachi, Christian Brelie, Yoshifusa Aizawa, Hiroshi Abe, Hirofumi Tomita, Ken Okumura, Joji Hagii, David J Tags: Research Article Source Type: research

Development of a cerebrovascular magnetic resonance imaging biomarker for cognitive aging
ObjectiveRecent availability of amyloid and tau positron emission tomography (PET) has provided us with a unique opportunity to measure the association of systemic vascular health with brain health after accounting for the impact of Alzheimer disease (AD) pathologies. We wanted to quantify early cerebrovascular health –related magnetic resonance imaging brain measures (structure, perfusion, microstructural integrity) and evaluate their utility as a biomarker for cerebrovascular health.MethodsWe used 2 independent samples (discovery, n  = 390; validation, n = 1,035) of individuals, aged&thi...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Prashanthi Vemuri, Timothy G. Lesnick, Scott A. Przybelski, Jonathan Graff ‐Radford, Robert I. Reid, Val J. Lowe, Samantha M. Zuk, Matthew L. Senjem, Christopher G. Schwarz, Jeffrey L. Gunter, Kejal Kantarci, Mary M. Machulda, Michelle M. Mi Tags: Research Article Source Type: research

Outcome of cell suspension allografts in a patient with Huntington's disease
For patients with incurable neurodegenerative disorders such as Huntington's (HD) and Parkinson's disease, cell transplantation has been explored as a potential treatment option. Here, we present the first clinicopathological study of a patient with HD in receipt of cell ‐suspension striatal allografts who took part in the NEST‐UK multicenter clinical transplantation trial. Using various immunohistochemical techniques, we found a discrepancy in the survival of grafted projection neurons with respect to grafted interneurons as well as major ongoing inflammatory a nd immune responses to the grafted tissue with evidence o...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Alexander Maxan, Sarah Mason, Martine Saint ‐Pierre, Emma Smith, Aileen Ho, Timothy Harrower, Colin Watts, Yen Tai, Nicola Pavese, Julie C. Savage, Marie‐Ève Tremblay, Peter Gould, Anne E. Rosser, Stephen B. Dunnett, Paola Piccini, Rog Tags: Brief Communication Source Type: research

Disease progression and outcome measures in spinobulbar muscular atrophy
In this study, we prospectively investigated disease progression over 18 months in 29 patients with genetically confirmed SBMA, using quantitative outcome measures, including Dixon magnetic resonance imaging (MRI).MethodsWe used MRI to assess changes in muscle fat content and stationary dynamometry to assess changes in muscle strength. Disease progression was also investigated with the SBMA functional rating scale, bulbar rating scale, 6 ‐minute walk test, and blood samples, among others.ResultsMean muscle fat content, muscle strength in knee extensors, handgrip strength, walking distance, and creatinine levels changed s...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Julia R. Dahlqvist, Freja Fornander, Josefine de Stricker Borch, Sofie T. Oestergaard, Nanna S. Poulsen, John Vissing Tags: Research Article Source Type: research

NBEA: Developmental disease gene with early generalized epilepsy phenotypes
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However,NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novoNBEA variants in patients with NDD, establishingNBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic ‐astatic epilepsy–like phenotype in...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Maureen S. Mulhern, Constance Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P. W. Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P. A. Stegmann, Mary K. Kukolich, Aida Telegrafi, Anna Lehman, for t Tags: Brief Communication Source Type: research

Relative neuron loss in hippocampal sclerosis of aging and Alzheimer's disease
ObjectiveTo characterize the pattern of neuron loss in hippocampal sclerosis of aging (HS ‐Aging) and age‐related diseases and to evaluate its contribution to cognitive impairment in the elderly.MethodsParticipants (n  = 1,361) came from longitudinal observational studies of aging at the Knight Alzheimer Disease Research Center, Washington University (St. Louis, MO). Relative neuron loss in the hippocampus of HS‐Aging was measured using unbiased stereological methods. Transactive response DNA‐binding prot ein of 43 kDa (TDP‐43) proteinopathy, a putative marker of HS‐Aging, was assessed. Clinical a...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Ryoko Ihara, Benjamin D. Vincent, Michael R. Baxter, Erin E. Franklin, Jason J. Hassenstab, Chengjie Xiong, John C. Morris, Nigel J. Cairns Tags: Research Article Source Type: research

Vagus nerve stimulation modulates the cranial trigeminal autonomic reflex
AbstractObjectiveThe trigeminal autonomic reflex plays an important role in primary headache syndromes. Noninvasive vagal nerve stimulation (nVNS) may be an effective modulator of this reflex.Methods22 healthy volunteers underwent Kinetic Oscillation Stimulation (KOS) of the left nostril as a reliable trigger of the trigeminal autonomic reflex. Previous to KOS left cervical nVNS, sham simulation or no stimulation was applied. Lacrimation was quantified using the standardized Schirmer's ll test.ResultsTreatment with cervical nVNS significantly reduced lacrimation between no stimulation and nVNS on the ipsilateral side (min ...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Maike Moeller, Celina F. Schroeder, Arne May Tags: Research Article Source Type: research

Meningeal inflammation and cortical demyelination in acute multiple sclerosis
AbstractObjectiveCortical grey matter (GM) pathology, involving demyelination and neurodegeneration, associated with meningeal inflammation, could be important in determining disability progression in multiple sclerosis (MS). However, we need to know more about how cortical demyelination, neurodegeneration and meningeal inflammation contribute to pathology in early stages of MS to better predict long ‐term outcome.MethodsTissue blocks from short disease duration MS (n=12, median disease duration 2 years), progressive MS (n=21, disease duration 25 years), non ‐diseased controls (n=11) and other neurological inflammatory...
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Ryan J. Bevan, Rhian Evans, Lauren Griffiths, Lewis M. Watkins, Mark I. Rees, Roberta Magliozzi, Ingrid Allen, Gavin McDonnell, Rachel Kee, Michelle Naughton, Denise C. Fitzgerald, Richard Reynolds, James W. Neal, Owain W. Howell Tags: Research Article Source Type: research

Relative neuron loss in hippocampal sclerosis of aging and Alzheimer's disease
Annals of Neurology, EarlyView. (Source: Annals of Neurology)
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Ryoko Ihara, Benjamin D. Vincent, Michael R. Baxter, Erin E. Franklin, Jason J. Hassenstab, Chengjie Xiong, John C. Morris, Nigel J. Cairns Source Type: research

Neuroimaging and clinical outcomes of oral anticoagulant –associated intracerebral hemorrhage
Annals of Neurology, EarlyView. (Source: Annals of Neurology)
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Georgios Tsivgoulis, Duncan Wilson, Aristeidis H. Katsanos, Jo ão Sargento‐Freitas, Cláudia Marques‐Matos, Elsa Azevedo, Tomohide Adachi, Christian Brelie, Yoshifusa Aizawa, Hiroshi Abe, Hirofumi Tomita, Ken Okumura, Joji Hagii, David J Source Type: research

Disease progression and outcome measures in spinobulbar muscular atrophy
Annals of Neurology, EarlyView. (Source: Annals of Neurology)
Source: Annals of Neurology - October 25, 2018 Category: Neurology Authors: Julia R. Dahlqvist, Freja Fornander, Josefine de Stricker Borch, Sofie T. Oestergaard, Nanna S. Poulsen, John Vissing Source Type: research