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Annals of Neurology: Volume 90, Number 1, July 2021
doi : 10.1002/ana.26139
Annals of NeurologyVolume 90, Issue 1 p. C1-C1
A series of schematic drawings of EEG functional connectivity in the alpha range (upper row) and delta range (lower row) across the brain, with more intense connections in warmer colors, and less intense ones in cooler colors. The two images on the left represent patients in the unresponsive wakefulness syndrome (UWS) and on the right in healthy controls. Patients in the minimally conscious state (MCS) are shown in the third column, and to their left are patients in the MCS* state, who are behaviorally unresponsive but have a better outcome than typical UWS patients. See Thibaut et al., (pp. 89–100, this issue) for details.
ANA Investigates: Tenecteplase
Michelle C. Johansen MD, PhD,Bruce C. V. Campbell PhD
doi : 10.1002/ana.26093
Annals of NeurologyVolume 90, Issue 1 p. 1-3
Endosome Dysregulation in Down Syndrome: A Potential Contributor to Alzheimer Disease Pathology
Alessia Filippone BSci,Domenico Pratic? MD
doi : 10.1002/ana.26042
Annals of NeurologyVolume 90, Issue 1 p. 4-14
Intracellular protein trafficking via the endosomes plays a key role in the maintenance of normal neuronal function. Although many diseases of the central nervous system exhibit specific pathological hallmarks, abnormalities of the endosome system are common traits for several of them, including Alzheimer disease (AD). Three main routes originate from the endosomes: the recycling, degradation, and retrograde pathways.
Exploring Uncharted Territory: Genetically Determined Sex Differences in Parkinson's Disease
Christine Klein MD,,Inke R. K?nig PhD
doi : 10.1002/ana.26091
Annals of NeurologyVolume 90, Issue 1 p. 15-18
Point-of-Care Noninvasive Assessments of Cerebrovascular Reactivity in Traumatic Brain Injury: Integrating the Physiome with Clinical Phenotype
Frederick A. Zeiler
doi : 10.1002/ana.26092
Annals of NeurologyVolume 90, Issue 1 p.19-21
Common X-Chromosome Variants Are Associated with Parkinson Disease Risk
Yann Le Guen PhD,Valerio Napolioni PhD,Michael E. Belloy PhD,Eric Yu BSc,Lynne Krohn MSc,Jennifer A. Ruskey MSc,Ziv Gan-Or MD, PhD,Gabriel Kennedy BSc,Sarah J. Eger BA,Michael D. Greicius MD, MPH
doi : 10.1002/ana.26051
Annals of NeurologyVolume 90, Issue 1 p.22-34
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease
Cornelis Blauwendraat PhD,Hirotaka Iwaki MD, PhD,Mary B. Makarious BSc,Sara Bandres-Ciga PhD,Hampton L. Leonard MSc,Francis P. Grenn BSc,Julie Lake BSc,Lynne Krohn MSc,Manuela Tan PhD,Jonggeol J. Kim BSc,Jesse R. Gibbs PhD,Dena G. Hernandez PhD,Jennifer A. Ruskey MSc,Lasse Pihlstr?m MD, PhD,Mathias Toft MD, PhD,Jacobus J. van Hilten MD, PhD,Johan Marinus MD, PhD,Claudia Schulte MSc,Kathrin Brockmann MD,Manu Sharma PhD,Ari Siitonen MD, PhD,Kari Majamaa MD, PhD,Johanna Eerola-Rautio MD, PhD,Pentti J. Tienari MD, PhD,Donald G. Grosset BSc, MD,Suzanne Lesage PhD,Jean-Christophe Corvol MD, PhD,Alexis Brice MD, PhD,Nick Wood MD, PhD,John Hardy PhD,Ziv Gan-Or MD, PhD,Peter Heutink PhD,Thomas Gasser MD,Huw R. Morris PhD, FRCP,Alastair J. Noyce MRCP, PhD,Mike A. Nalls PhD,Andrew B. Singleton PhD,and the International Parkinson's Disease Genomics Consortium (IPDGC)
doi : 10.1002/ana.26090
Annals of NeurologyVolume 90, Issue 1 p. 35-42
Parkinson's disease (PD) is a complex neurodegenerative disorder. Men are on average ~?1.5 times more likely to develop PD compared to women with European ancestry. Over the years, genomewide association studies (GWAS) have identified numerous genetic risk factors for PD, however, it is unclear whether genetics contribute to disease etiology in a sex-specific manner.
Cerebrovascular Neuroprotection after Acute Concussion in Adolescents
Stacey E. Aaron PhD,Jason W. Hamner BS,Erin D. Ozturk BS,Danielle L. Hunt MS,Mary Alexis Iaccarino MD,William P. Meehan III MD,David R. Howell PhD,Can Ozan Tan PhD
doi : 10.1002/ana.26082
Annals of NeurologyVolume 90, Issue 1 p.43-51
Foslevodopa/Foscarbidopa: A New Subcutaneous Treatment for Parkinson's Disease
Matthew Rosebraugh PhD,Eric A. Voight PhD,Ehab M. Moussa PhD,Feroz Jameel PhD,Xiaochun Lou MSc,Geoff G. Z. Zhang PhD,Peter T. Mayer PhD,Deanne Stolarik BS,Robert A. Carr PhD,Brian P. Enright PhD,Wei Liu PhD,Maurizio F. Facheris MD,Philip R. Kym PhD
doi : 10.1002/ana.26073
Annals of NeurologyVolume 90, Issue 1 p.52-61
The aim was to demonstrate that continuous s.c. infusion of a soluble levodopa (LD)/carbidopa (CD) phosphate prodrug combination effectively delivers stable LD exposure via a minimally invasive and convenient mode and has the potential to treat Parkinson's disease (PD) patients who are not well controlled on oral medication.
Speech Biomarkers in Rapid Eye Movement Sleep Behavior Disorder and Parkinson Disease
Jan Rusz PhD,Jan Hlavni?ka PhD,Michal Novotn? PhD,Tereza Tykalov? PhD,Amelie Pelletier PhD,Jacques Montplaisir MD, PhD,Jean-Francois Gagnon MD, PhD,Petr Du?ek MD, PhD,Andrea Galbiati MD,Sara Marelli MD,Paul C. Timm MD,Luke N. Teigen M,Annette Janzen MD,Mahboubeh Habibi MD,Ambra Stefani MD, PhD,Evi Holzknecht MD,Klaus Seppi MD, PhD,Elisa Evangelista MD,Anna Laura Rassu MD,Yves Dauvilliers MD, PhD,Birgit H?gl MD, PhD,Wolfgang Oertel MD, PhD,Erik K. St. Louis MD, PhD,Luigi Ferini-Strambi MD, PhD,Ev?en R??i?ka MD, PhD,Ronald B. Postuma MD, PhD,Karel ?onka MD, PhD
doi : 10.1002/ana.26085
Annals of NeurologyVolume 90, Issue 1 p. 62-75
This multilanguage study used simple speech recording and high-end pattern analysis to provide sensitive and reliable noninvasive biomarkers of prodromal versus manifest ?-synucleinopathy in patients with idiopathic rapid eye movement sleep behavior disorder (iRBD) and early-stage Parkinson disease (PD).
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease
Dongbing Lai PhD,Babak Alipanahi PhD,Pierre Fontanillas PhD,Tae-Hwi Schwantes-An PhD,Jan Aasly MD, PhD,Roy N. Alcalay MD, MS,Gary W. Beecham PhD,Daniela Berg MD,Susan Bressman MD,Alexis Brice MD,Kathrin Brockman MD,Lorraine Clark PhD,Mark Cookson PhD,Sayantan Das PhD,Vivianna Van Deerlin MD, PhD,Jordan Follett PhD,Matthew J. Farrer PhD,Joanne Trinh PhD,Thomas Gasser MD,Stefano Goldwurm MD, PhD,Emil Gustavsson PhD,Christine Klein MD,Anthony E. Lang MD,J. William Langston MD,Jeanne Latourelle DSc,Timothy Lynch MD,Karen Marder MD, MPH,Connie Marras MD, PhD,Eden R. Martin PhD,Cory Y. McLean PhD,Helen Mejia-Santana MS,Eric Molho MD,Richard H. Myers PhD,Karen Nuytemans PhD,Laurie Ozelius PhD,Haydeh Payami PhD,Deborah Raymond MS,Ekaterina Rogaeva PhD,Michael P. Rogers MD,Owen A. Ross PhD,Ali Samii MD,Rachel Saunders-Pullman MD,Birgitt Schüle MD,Claudia Schulte MS,William K. Scott PhD,Caroline Tanner MD,Eduardo Tolosa MD, PhD,James E. Tomkins PhD,Dolores Vilas MD,John Q. Trojanowski MD, PhD,The 23andMe Research Team,Ryan Uitti MD,Jeffery M. Vance MD, PhD,Naomi P. Visanji PhD,Zbigniew K. Wszolek MD,Cyrus P. Zabetian MD, MS,Anat Mirelman PhD,Nir Giladi MD,Avi Orr Urtreger PhD,Paul Cannon PhD,Brian Fiske PhD,Tatiana Foroud PhD
doi : 10.1002/ana.26094
Annals of NeurologyVolume 90, Issue 1 p. 76-88
The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease.
Preservation of Brain Activity in Unresponsive Patients Identifies MCS Star
Aurore Thibaut PhD,Rajanikant Panda ME,Jitka Annen PhD,Leandro R. D. Sanz MD,Lionel Naccache MD, PhD,Charlotte Martial PhD,Camille Chatelle PhD,Charlène Aubinet PhD,Estelle A. C. Bonin MSc,Alice Barra MSc,Marie-Michèle Briand MD,Benedetta Cecconi MSc,Sarah Wannez PhD,Johan Stender MD, PhD,Steven Laureys MD, PhD,Olivia Gosseries PhD
doi : 10.1002/ana.26095
Annals of NeurologyVolume 90, Issue 1 p.89-100
Brain-injured patients who are unresponsive at the bedside (ie, vegetative state/unresponsive wakefulness syndrome – VS/UWS) may present brain activity similar to patients in minimally conscious state (MCS). This peculiar condition has been termed “non-behavioural MCS” or “MCS*”. In the present study we aimed to investigate the proportion and underlying brain characteristics of patients in MCS*.
Encephalitis with Autoantibodies against the Glutamate Kainate Receptors GluK2
Jon Landa BS,Mar Guasp MD,Federico M?guez-Cabello BS,Joana Guimar?es MD, PhD,Takayasu Mishima MD, PhD,Fumiko Oda MD,Frauke Zipp MD, PhD,Vladimir Krajinovic MD, PhD,Peter Fuhr MD,Jerome Honnorat MD, PhD,Maarten Titulaer MD, PhD,Mateus Simabukuro MD,Jesus Planagumà PhD,Eugenia Mart?nez-Hern?ndez MD, PhD,Thais Armangué MD, PhD,Albert Saiz MD, PhD,Xavier Gasull PhD,David Soto MD,Francesc Graus MD, PhD,Lidia Sabater PhD,Josep Dalmau MD, PhD, and GluK2 encephalitis study group
doi : 10.1002/ana.26098
Annals of NeurologyVolume 90, Issue 1 p.101-117
Characterization of Extracranial Giant Cell Arteritis with Intracranial Involvement and its Rapidly Progressive Subtype
Carolin Beuker MD,Maximilian Christian Wankner,Christian Thomas MD,Jan-Kolja Strecker PhD,Antje Schmidt-Pogoda MD,Wolfram Schwindt MD,Andreas Schulte-Mecklenbeck PhD,Catharina Gross PhD,Heinz Wiendl MD,Peter J. Barth MD,Bernd Eckert MD,Thomas Raphael Meinel MD,Marcel Arnold MD,Jens Schaumberg MD,Schulamith Krüger MD,Milani Deb-Chatterji MD,Tim Magnus MD,Joachim R?ther MD,Jens Minnerup MD
doi : 10.1002/ana.26101
Annals of NeurologyVolume 90, Issue 1 p. 118-129
The objective of this study was to characterize patients with extracranial giant cell arteritis with intracranial involvement.
?4?2* Nicotinic Cholinergic Receptor Target Engagement in Parkinson Disease Gait–Balance Disorders
Roger L. Albin MD,Martijn L. T. M. Müller PhD,Nicolaas I. Bohnen MD, PhD,Cathie Spino ScD,Martin Sarter PhD,Robert A. Koeppe PhD,Ashley Szpara BA,Kamin Kim PhD,Cindy Lustig PhD,William T. Dauer MD
doi : 10.1002/ana.26102
Annals of NeurologyVolume 90, Issue 1 p. 130-142
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
Anne Sch?nzer MD,Melanie T. Achleitner MSc,Dietrich Trümbach PhD,Laurence Hubert MSc,Arnold Munnich MD, PhD,Barbara Ahlemeyer PhD,Maha M. AlAbdulrahim MSc,Philipp A. Greif MD,Sebastian Vosberg PhD,Blake Hummer PhD,René G. Feichtinger PhD,Johannes A. Mayr PhD,Saskia B. Wortmann MD, PhD,Heidi Aichner MD,Sabine Rudnik-Sch?neborn MD,Anna Ruiz PhD,Elisabeth Gabau MD,Jacobo Pérez S?nchez MD,Sian Ellard PhD,Tessa Homfray MD,Karen L. Stals BSc,Wolfgang Wurst PhD,Bernd A. Neubauer MD,Till Acker MD,Stefan K. Bohlander MD,Cédric Asensio PhD,Claude Besmond PhD,Fowzan S. Alkuraya MD,Moenaldeen D. AlSayed MD,Andreas Hahn MD,Axel Weber MD
doi : 10.1002/ana.26127
Annals of NeurologyVolume 90, Issue 1 p. 143-158
Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous system (CNS). We aimed to clarify the genetic cause in a group of patients characterized by hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy.
Mechanisms of Ischemic Stroke in Patients with Cancer: A Prospective Study
The objective of this study was to examine the pathophysiology of ischemic stroke with cancer.
doi : 10.1002/ana.26129
Annals of NeurologyVolume 90, Issue 1 p.159-169
The objective of this study was to examine the pathophysiology of ischemic stroke with cancer.
Rapidly Progressing Honeycomb-Like Germinoma in the Ventricular System
doi : 10.1002/ana.26075
Annals of NeurologyVolume 90, Issue 1 p. 170-171
Tongue Tremor in Systemic Lupus Erythematosus
doi : 10.1002/ana.26088
Annals of NeurologyVolume 90, Issue 1 p. 172-173
Neurofilament Light Chain in Patients with COVID-19 and Bacterial Pneumonia
doi : 10.1002/ana.26135
Annals of NeurologyVolume 90, Issue 1 p. 174-175
Reply to: Neurofilament Light Chain in Patients with COVID-19 and Bacterial Pneumonia
doi : 10.1002/ana.26132
Annals of NeurologyVolume 90, Issue 1 p. 175-176
Concerns Regarding Therapeutic Implications of Very Low-Level Dystrophin
doi : 10.1002/ana.26097
Annals of NeurologyVolume 90, Issue 1 p.176-176
