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Annals of Neurology

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https://www.readbyqxmd.com/read/28921611/dendritic-spines-provide-cognitive-resilience-against-alzheimer-s-disease
#1
Benjamin D Boros, Kelsey M Greathouse, Erik G Gentry, Kendall A Curtis, Elizabeth L Birchall, Marla Gearing, Jeremy H Herskowitz
OBJECTIVE: Neuroimaging and other biomarker assays suggest that the pathological processes of Alzheimer's disease (AD) initiate years prior to clinical dementia onset. However some 30%-50% of older individuals that harbor AD pathology do not become symptomatic in their lifetime. It is hypothesized that such individuals exhibit cognitive resilience that protects against AD dementia. We hypothesized that in cases with AD pathology structural changes in dendritic spines would distinguish individuals that had or did not have clinical dementia...
September 16, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28892573/bicycling-suppresses-abnormal-beta-synchrony-in-the-parkinsonian-basal-ganglia
#2
Lena Storzer, Markus Butz, Jan Hirschmann, Omid Abbasi, Maciej Gratkowski, Dietmar Saupe, Jan Vesper, Sarang S Dalal, Alfons Schnitzler
OBJECTIVE: Freezing of gait is a poorly understood symptom of Parkinson's disease, and can severely disrupt the locomotion of affected patients. However, bicycling ability remains surprisingly unaffected in most patients suffering from freezing suggesting functional differences in the motor network. The purpose of this study was to characterize and contrast the oscillatory dynamics underlying bicycling and walking in the basal ganglia. METHODS: We present the first local field potential recordings directly comparing bicycling and walking in Parkinson's disease patients with electrodes implanted in the subthalamic nuclei for deep brain stimulation...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28892572/deconstructing-normal-pressure-hydrocephalus-ventriculomegaly-as-early-sign-of-neurodegeneration
#3
REVIEW
Alberto J Espay, Gustavo A Da Prat, Alok K Dwivedi, Federico Rodriguez-Porcel, Jennifer E Vaughan, Michela Rosso, Johnna L Devoto, Andrew P Duker, Mario Masellis, Charles D Smith, J George T Mandybur, Aristide Merola, Anthony E Lang
Idiopathic normal pressure hydrocephalus (NPH) remains both over-suspected on clinical grounds and under-confirmed when based on immediate and sustained response to cerebrospinal fluid diversion. Poor long-term post-shunt benefits and findings of neurodegenerative pathology in most patients with adequate follow up suggests that hydrocephalic disorders appearing in late adulthood may often result from initially unapparent parenchymal abnormalities. We critically review the NPH literature, highlighting the near universal lack of blinding and controls, the absence of specific clinical, imaging, or pathologic features, and the ongoing dependence for diagnostic confirmation on variable cutoffs of gait response to bedside fluid-drainage testing...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28892570/dnajc12-and-dopa-responsive-non-progressive-parkinsonism
#4
Letizia Straniero, Ilaria Guella, Roberto Cilia, Laura Parkkinen, Valeria Rimoldi, Alexander Young, Rosanna Asselta, Giulia Soldà, Vesna Sossi, A Jon Stoessl, Alberto Priori, Kenya Nishioka, Nobutaka Hattori, Jordan Follett, Alex Rajput, Nenad Blau, Gianni Pezzoli, Matthew J Farrer, Stefano Goldwurm, Ali H Rajput, Stefano Duga
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63*and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild non-progressive, motor symptoms, sustained benefit from small dose of levodopa and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology and substantia nigra depigmentation with moderate cell loss DNAJC12 transcripts were reduced in both patients...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28892566/brain-heart-interactions-reveal-consciousness-in-non-communicating-patients
#5
Federico Raimondo, Benjamin Rohaut, Athena Demertzi, Melanie Valente, Denis Engemann, Moti Salti, Diego Fernandez Slezak, Lionel Naccache, Jacobo D Sitt
Objective We here aimed at characterizing heart-brain interactions in patients with disorders of consciousness. We tested how this information impacts data-driven classification between unresponsive and minimally conscious patients. Methods A cohort of 127 patients in vegetative state/unresponsive wakefulness syndrome (VS/UWS, n=70) and minimally conscious state (MCS, n=57) were presented with the 'Local-Global' auditory oddball paradigm, which distinguishes two levels of processing: short-term deviation of local auditory regularities and global long-term rule violations...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28892560/mutations-of-kif14-cause-primary-microcephaly-by-impairing-cytokinesis
#6
Abubakar Moawia, Ranad Shaheen, Sajida Rasool, Syeda Seema Waseem, Nour Ewida, Birgit Budde, Amit Kawalia, Susanne Motameny, Kamal Khan, Ambrin Fatima, Muhammad Jameel, Farid Ullah, Talia Akram, Zafar Ali, Uzma Abdullah, Saba Irshad, Wolfgang Höhne, Angelika Anna Noegel, Mohammed Al-Owain, Konstanze Hörtnagel, Petra Stöbe, Shahid Mahmood Baig, Peter Nürnberg, Fowzan Sami Alkuraya, Andreas Hahn, Muhammad Sajid Hussain
OBJECTIVE: Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (Citron Rho-interacting kinase) - a component of the central spindle matrix, were added. We aimed at identifying novel MCPH-associated genes and exploring their functional role in pathogenesis. METHODS: Linkage analysis and whole-exome sequencing were performed in consanguineous and nonconsanguineous MCPH families to identify disease-causing variants...
September 11, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28869676/alcohol-improves-cerebellar-learning-deficit-in-myoclonus-dystonia-a-clinical-and-electrophysiological-investigation
#7
Anne Weissbach, Elisa Werner, Julien F Bally, Sinem Tunc, Sebastian Löns, Dagmar Timmann, Kirsten E Zeuner, Vera Tadic, Norbert Brüggemann, Anthony Lang, Christine Klein, Alexander Münchau, Tobias Bäumer
OBJECTIVES: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration. METHODS: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0...
September 4, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28869675/on-establishing-a-grant-pre-review-process-for-new-investigators
#8
EDITORIAL
Seward B Rutkove
No abstract text is available yet for this article.
September 4, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28869674/mmp-9-as-a-biomarker-of-pml-development-in-ms-patients-receiving-natalizumab
#9
LETTER
Hamid Zahednasab, Mohammad Hossein Harirchian, Sajad Karampoor, Hossein Keyvani
No abstract text is available yet for this article.
September 4, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28869673/reply-mmp-9-as-a-biomarker-of-pml-development-in-ms-patients-receiving-natalizumab
#10
LETTER
Nicolas Fissolo, Béatrice Pignolet, David Brassat, Manuel Comabella
No abstract text is available yet for this article.
September 4, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28869672/internal-grant-review-to-increase-grant-funding-for-junior-investigators
#11
Heather S Thomas, Martin B Brodsky, Joshua B Ewen, Gregory K Bergey, Thomas E Lloyd, Norman J Haughey, Cherie L Marvel
Decreasing biomedical research support over the past decade has driven many talented young scientists to seek careers outside academia. In 2011, the Department of Neurology at Johns Hopkins University School of Medicine developed an internal grant review program (IGRP) to systematically review career development awards (CDAs) and research grants (e.g., R01s) for junior investigators prior to NIH submission. With IGRP implementation, we observed significant increases in the number of CDAs and R-grants awarded to junior investigators...
September 4, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28869671/concussion-in-adolescence-and-risk-of-multiple-sclerosis
#12
Scott Montgomery, Ayako Hiyoshi, Sarah Burkill, Lars Alfredsson, Shahram Bahmanyar, Tomas Olsson
OBJECTIVE: To assess whether concussion in childhood or adolescence is associated with subsequent multiple sclerosis risk. Previous research suggests an association but methodological limitations included retrospective data collection and small study populations. METHODS: The national Swedish Patient (hospital diagnoses) and Multiple Sclerosis registers were used to identify all MS diagnoses up to 2012 among people born from 1964, when the Patient Register was established...
September 4, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28858398/the-missing-the-short-and-the-long-exploring-the-borderland-between-psychiatry-and-neurology
#13
LETTER
Hamilton Moses
No abstract text is available yet for this article.
August 31, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28856716/reply-to-the-missing-the-short-and-the-long-exploring-the-borderland-between-psychiatry-and-neurology
#14
LETTER
Roger L Albin, Daniel K Leventhal
No abstract text is available yet for this article.
August 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28856709/gabbr2-mutations-determine-phenotype-in-rett-syndrome-and-epileptic-encephalopathy
#15
Yongjin Yoo, Jane Jung, Yoo-Na Lee, Youngha Lee, Hyosuk Cho, Eunjung Na, JeaYeok Hong, Eunjin Kim, Jin Sook Lee, Je Sang Lee, Chansik Hong, Sang-Yoon Park, Jinhong Wie, Kathryn Miller, Natasha Shur, Cheryl Clow, Roseànne S Ebel, Suzanne D DeBrosse, Lindsay B Henderson, Rebecca Willaert, Christopher Castaldi, Irina Tikhonova, Kaya Bilgüvar, Shrikant Mane, Ki Joong Kim, Yong Seung Hwang, Seok-Geun Lee, Insuk So, Byung Chan Lim, Hee-Jung Choi, Jae Young Seong, Yong Beom Shin, Hosung Jung, Jong-Hee Chae, Murim Choi
OBJECTIVE: Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary of the two conditions, complicating accurate diagnosis and appropriate medical interventions. Therefore, we investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions...
August 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28856708/degeneration-of-serotonin-neurons-triggers-spasticity-in-amyotrophic-lateral-sclerosis
#16
Hajer El Oussini, Jelena Scekic-Zahirovic, Pauline Vercruysse, Christine Marques, Sylvie Dirrig-Grosch, Stéphane Dieterlé, Gina Picchiarelli, Jérôme Sinniger, Caroline Rouaux, Luc Dupuis
OBJECTIVE: Spasticity occurs in a wide range of neurological diseases, including neurodegenerative diseases, after trauma or after stroke and is characterized by increased reflexes leading to muscle hypertonia. Spasticity is a painful symptom and can severely restrict everyday life, but might also participate in maintaining a low level of motor function in severely impaired patients. Constitutive activity of the serotonin receptors 5-HT2B/C is required for the development of spasticity after spinal cord injury or during amyotrophic lateral sclerosis (ALS)...
August 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28856694/fetal-growth-and-premature-delivery-in-pregnant-women-on-anti-epileptic-drugs
#17
Sonia Hernández-Díaz, Thomas F McElrath, Page B Pennell, W Allen Hauser, Mark Yerby, Lewis B Holmes
OBJECTIVE: To evaluate the effects of epilepsy and antiepileptic drugs (AED) use during pregnancy on fetal growth and preterm delivery. METHODS: This study included singleton liveborns born to women enrolled in the North American Antiepileptic Drug Pregnancy Registry between 1997 and 2016. Data were collected prospectively through telephone interviews. The prevalence of preterm birth (<37 weeks) and small-for-gestational-age (SGA) among infants exposed prenatally to AED when used by women with epilepsy (WWE) or women without epilepsy (WWOE) was compared with that among infants unexposed to AEDs and born to WWOE...
August 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28843047/dysregulation-of-limk-1-cofilin-1-pathway-a-possible-basis-for-alteration-of-neuronal-morphology-in-experimental-cerebral-malaria
#18
Praveen Kumar Simhadri, Ruchi Malwade, Ravisankar Vanka, Venkata Prasuja Nakka, Gowthamarajan Kuppusamy, Prakash Babu Phanithi
OBJECTIVE: Loss of cognition even after survival is the salient feature of cerebral malaria (CM). Currently, the fate of neuronal morphology is not studied at the ultra-structural level in CM. Recent studies suggest that maintenance of neuronal morphology and dendritic spine density (actin dynamics in particular) are essential for proper cognitive functions. LIMK-1/Cofilin-1signaling pathway is known to involve in the maintenance of actin dynamics through regulation of cofilin-1, in executing learning and memory functions...
August 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28833467/dopamine-transporter-imaging-deficit-predicts-early-transition-to-synucleinopathy-in-idiopathic-rem-sleep-behavior-disorder
#19
Alex Iranzo, Joan Santamaría, Francesc Valldeoriola, Monica Serradell, Manel Salamero, Carles Gaig, Aida Niñerola-Baizan, Raquel Sánchez-Valle, Albert Lladó, Roberto De Marzi, Ambra Stefani, Klaus Seppi, Javier Pavia, Birgit Högl, Werner Poewe, Eduard Tolosa, Francesc Lomeña
OBJECTIVE: To determine the usefulness of dopamine transporter (DAT) imaging to identify idiopathic REM sleep behavior disorder (IRBD) patients at risk for short-term development of clinically-defined synucleinopathy. METHODS: Eighty-seven patients with polysomnography-confirmed IRBD underwent (123) I-FP-CIT DAT-SPECT. Results were compared with 20 matched controls without RBD who underwent DAT-SPECT. In patients, FP-CIT uptake was considered abnormal when values were two standard deviations below controls' mean uptake...
August 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28833439/converse-well-being-of-locked-in-patients-and-caregivers
#20
LETTER
Simone Renault, Amar Dhand
No abstract text is available yet for this article.
August 22, 2017: Annals of Neurology
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