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Annals of Neurology

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https://read.qxmd.com/read/31509621/amyloid-vascular-and-resilience-pathways-associated-with-cognitive-aging
#1
Prashanthi Vemuri, Timothy G Lesnick, David S Knopman, Scott A Przybelski, Robert I Reid, Michelle M Mielke, Jonathan Graff-Radford, Val J Lowe, Mary M Machulda, Ronald C Petersen, Clifford R Jack
INTRODUCTION: To investigate the multifactorial processes underlying cognitive aging based on the hypothesis that multiple causal pathways and mechanisms (amyloid, vascular, and resilience) influence longitudinal cognitive decline in each individual through worsening brain health. METHODS: We identified 1230 elderly (aged ≥50 years) with average 4.9 years of clinical follow-up and with amyloid-PET, DTI, and structural MRI scans from the population-based Mayo Clinic Study of Aging...
September 11, 2019: Annals of Neurology
https://read.qxmd.com/read/31509620/reply-to-reduced-cyfip2-stability-by-arg87-variants-causing-human-neurological-disorders
#2
LETTER
Mitsuko Nakashima, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
No abstract text is available yet for this article.
September 11, 2019: Annals of Neurology
https://read.qxmd.com/read/31509619/neuronal-circuit-activity-during-neonatal-hypoxic-ischemic-seizures-in-mice
#3
Jennifer Burnsed, Daria SkwarzyŃska BEng, Pravin K Wagley, Laura Isbell, Jaideep Kapur
OBJECTIVE: To identify circuits active during neonatal hypoxic-ischemic (HI) seizures and seizure propagation using electroencephalography (EEG), behavior, and whole brain neuronal activity mapping. METHODS: Mice were exposed to hypoxia-ischemia on postnatal day (p) 10 using unilateral carotid ligation and global hypoxia. EEG and video were recorded for the duration of the experiment. Using immediately early gene (IEG) reporter mice, active cells expressing cfos were permanently tagged with reporter protein, tdTomato, during a 90 minute window...
September 11, 2019: Annals of Neurology
https://read.qxmd.com/read/31509259/reduced-cyfip2-stability-by-arg87-variants-causing-human-neurological-disorders
#4
LETTER
Yeunkum Lee, Yinhua Zhang, Jae Ryun Ryu, Hyae Rim Kang, Doyoun Kim, Chunmei Jin, Yoonhee Kim, Woong Sun, Kihoon Han
No abstract text is available yet for this article.
September 11, 2019: Annals of Neurology
https://read.qxmd.com/read/31502291/reply-to-global-central-nervous-system-atrophy-in-spinal-muscular-atrophy-type-0
#5
LETTER
Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, André M S Silva, Umbertina C Reed, Leslie Kulikowski, Ida Paramonov, Ivon Cuscó, Eduardo F Tizzano, Edmar Zanoteli
No abstract text is available yet for this article.
September 9, 2019: Annals of Neurology
https://read.qxmd.com/read/31502271/global-central-nervous-system-atrophy-in-spinal-muscular-atrophy-type-0
#6
LETTER
Kenichi Maeda, Pin Fee Chong, Fumiya Yamashita, Satoshi Akamine, Saori Kawakami, Kayoko Saito, Yasushi Takahata, Ryutaro Kira
No abstract text is available yet for this article.
September 9, 2019: Annals of Neurology
https://read.qxmd.com/read/31498917/hand-posture-as-localizing-sign-in-adult-focal-epileptic-seizures
#7
Isabella Ferando, Jason R Soss, Christopher Elder, Vishal Shah, Giorgio Lo Russo, Laura Tassi, Carlo Alberto Tassinari, Jerome Engel
OBJECTIVE: The aim of this study was to identify specific ictal hand postures (HP) as localizing signs of the epileptogenic zone (EZ) in patients with frontal or temporal lobe epilepsy. METHODS: In this study we retrospectively analyzed ictal semiology of 489 temporal lobe or frontal lobe seizures recorded over a 6-year period at the Seizure Disorder Center of UCLA - USA (45 patients) or at the "C. Munari" Epilepsy Surgery Centre of the Niguarda Hospital in Milan - Italy (34 patients)...
September 9, 2019: Annals of Neurology
https://read.qxmd.com/read/31486104/telomere-length-is-associated-with-disability-progression-in-multiple-sclerosis
#8
Kristen M Krysko, Roland G Henry, Bruce A C Cree, Jue Lin, Stacy Caillier, Adam Santaniello, Chao Zhao, Refujia Gomez, Carolyn Bevan, Dana L Smith, William Stern, Gina Kirkish, Stephen L Hauser, Jorge R Oksenberg, Jennifer S Graves
OBJECTIVE: To assess whether biological aging as measured by leukocyte telomere length (LTL) is associated with clinical disability and brain volume loss in multiple sclerosis (MS). METHODS: Adults with MS/CIS in the UCSF-EPIC cohort study were included. LTL was measured on DNA samples by quantitative PCR and expressed as telomere to somatic DNA ratio (T/S). Expanded Disability Status Scale (EDSS) and 3D T1-weighted brain MRI were performed at baseline and follow-up...
September 4, 2019: Annals of Neurology
https://read.qxmd.com/read/31464350/associations-between-cerebrovascular-risk-factors-and-parkinson-disease
#9
Benjamin R Kummer, Iván Diaz, Xian Wu, Ashley E Aaroe, Monica L Chen, Costantino Iadecola, Hooman Kamel, Babak B Navi
OBJECTIVE: To determine whether cerebrovascular risk factors are associated with subsequent diagnoses of Parkinson disease, and whether these associations are similar in magnitude to those with subsequent diagnoses of Alzheimer disease. METHODS: This was a retrospective cohort study using claims data from a 5% random sample of Medicare beneficiaries from 2008 to 2015. The exposures were stroke, atrial fibrillation, coronary disease, hyperlipidemia, hypertension, sleep apnea, diabetes mellitus, heart failure, peripheral vascular disease, chronic kidney disease, chronic obstructive pulmonary disease, valvular heart disease, tobacco use, and alcohol abuse...
August 29, 2019: Annals of Neurology
https://read.qxmd.com/read/31461177/chronic-dengue-virus-encephalitis-in-a-patient-with-progressive-dementia-with-extrapyramidal-features
#10
Tory P Johnson, H Benjamin Larman, Myoung-Hwa Lee, Stephen S Whitehead, Jeffrey Kowalak, Camilo Toro, C Christopher Lau, Juyun Kim, Kory R Johnson, Lauren B Reoma, Arline Faustin, Carlos Pardo, Sanjay Kottapalli, Jonathan Howard, Daniel Monaco, James Weisfeld-Adams, Craig Blackstone, Steven Galetta, Matija Snuderl, William A Gahl, Ilya Kister, Avindra Nath
OBJECTIVE: To determine the underlying etiology in a patient with progressive dementia with extrapyramidal signs and chronic inflammation referred to the National Institutes of Health Undiagnosed Diseases Program. METHODS: Extensive investigations included metabolic profile, autoantibody panel, infectious etiologies, genetic screening, whole exome sequencing and the phage-display assay, VirScan, for viral immune responses. An etiological diagnosis was established post-mortem...
August 28, 2019: Annals of Neurology
https://read.qxmd.com/read/31435960/intravenous-thrombolysis-for-suspected-ischemic-stroke-with-seizure-at-onset
#11
Alexandros A Polymeris, Sami Curtze, Hebun Erdur, Christian Hametner, Mirjam R Heldner, Adrien E Groot, Andrea Zini, Yannick Béjot, Annina Dietrich, Nicolas Martinez-Majander, Regina von Rennenberg, Christoph Gumbinger, Sabine Schaedelin, Gian Marco De Marchis, Sebastian Thilemann, Christopher Traenka, Philippe A Lyrer, Leo H Bonati, Susanne Wegener, Peter A Ringleb, Turgut Tatlisumak, Christian H Nolte, Jan F Scheitz, Marcel Arnold, Daniel Strbian, Paul J Nederkoorn, Henrik Gensicke, Stefan T Engelter
OBJECTIVE: Seizure at onset (SaO) has been considered a relative contraindication for intravenous thrombolysis (IVT) in patients with acute ischemic stroke, although this appraisal is not evidence-based. Here, we investigated the prognostic significance of SaO in patients treated with IVT for suspected ischemic stroke. METHODS: In this multicenter, IVT-registry-based study we assessed the association between SaO and symptomatic intracranial hemorrhage (sICH, ECASS-II definition), 3-month mortality and 3-month functional outcome on the modified Rankin Scale (mRS) using unadjusted and adjusted logistic regression, coarsened exact matching and inverse probability weighted analyses...
August 21, 2019: Annals of Neurology
https://read.qxmd.com/read/31433864/astrocyte-subtype-vulnerability-in-stem-cell-models-of-vanishing-white-matter
#12
Prisca S Leferink, Stephanie Dooves, Anne E J Hillen, Kyoko Watanabe, Gerbren Jacobs, Lisa Gasparotto, Paulien Cornelissen-Steijger, Marjo S van der Knaap, Vivi M Heine
OBJECTIVE: Astrocytes have gained attention as important players in neurological disease. In line with their heterogeneous character, defects in specific astrocyte subtypes have been identified. Leukodystrophy Vanishing White Matter shows selective vulnerability in white matter astrocytes, but the underlying mechanisms remain unclear. Induced pluripotent stem cell technology is extensively being explored in studies of pathophysiology and regenerative medicine. However, models for distinct astrocyte subtypes for VWM are lacking, thereby hampering identification of disease-specific pathways...
August 21, 2019: Annals of Neurology
https://read.qxmd.com/read/31433517/ggc-repeat-expansion-of-notch2nlc-in-adult-patients-with-leukoencephalopathy
#13
Masaki Okubo, Hiroshi Doi, Ryoko Fukai, Atsushi Fujita, Satomi Mitsuhashi, Shunta Hashiguchi, Hitaru Kishida, Naohisa Ueda, Keisuke Morihara, Akihiro Ogasawara, Yuko Kawamoto, Tatsuya Takahashi, Keita Takahashi, Haruko Nakamura, Misako Kunii, Mikiko Tada, Atsuko Katsumoto, Hiromi Fukuda, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Junichiro Suzuki, Yasuhiro Ito, Jun Sone, Gen Sobue, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
Leukoencephalopathies comprise a broad spectrum of disorders, but the genetic background of adult leukoencephalopathies has rarely been assessed. In this study, we analyzed 101 Japanese patients with genetically unresolved adult leukoencephalopathy using whole-exome sequencing and repeat-primed PCR for detecting GGC expansion in NOTCH2NLC. NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease. We found 12 patients with GGC expansion in NOTCH2NLC as the most frequent cause of adult leukoencephalopathy followed by NOTCH3 variants in our cohort...
August 21, 2019: Annals of Neurology
https://read.qxmd.com/read/31415102/depression-as-a-risk-factor-for-impulse-control-disorders-in-parkinson-s-disease
#14
Juan Marín-Lahoz, Frederic Sampedro, Saül Martinez-Horta, Javier Pagonabarraga, Jaime Kulisevsky
OBJECTIVES: To longitudinally evaluate the role of depression in the development of impulse control disorders (ICD) in Parkinson's disease (PD) patients. METHODS: Using data from the Parkinson's Progression Markers Initiative (PPMI) we included PD patients without ICD at baseline according to the Questionnaire for Impulsive-Compulsive Disorders in PD (QUIP). Patients were prospectively evaluated first quarterly and then biannually. Development of ICD was defined as an increase in QUIP scores during follow up...
August 15, 2019: Annals of Neurology
https://read.qxmd.com/read/31415099/why-medicare-for-all-would-be-a-disaster
#15
EDITORIAL
Clifford B Saper
No abstract text is available yet for this article.
August 15, 2019: Annals of Neurology
https://read.qxmd.com/read/31397917/clinical-variability-in-p102l-gerstmann-str%C3%A3-ussler-scheinker-syndrome
#16
Adam Tesar, Radoslav Matej, Jaromir Kukal, Silvie Johanidesova, Irena Rektorova, Martin Vyhnalek, Jiri Keller, Ilona Eliasova, Eva Parobkova, Magdalena Smetakova, Zuzana Musova, Robert Rusina
Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from seven Czech patients and 87 published cases suggests the existence of four clinical phenotypes ("typical GSS," "GSS with areflexia and paresthesia," "pure dementia GSS," and "Creutzfeldt-Jakob disease-like GSS"); GSS may be more common than previously estimated...
August 9, 2019: Annals of Neurology
https://read.qxmd.com/read/31397912/effects-of-orthostatic-hypotension-on-cognition-in-type-2-diabetes-mellitus
#17
Jinbiao Zhang, Haiyan Chi, Tong Wang, Tengqun Shen, Haijing Wang, Xiaoling Yuan, Zhenguang Li
OBJECTIVE: To evaluate the effect of a decrease in blood pressure (BP) fulfilling the diagnostic criteria for orthostatic hypotension (OH) on performance in each domain of cognitive function in patients with type 2 diabetes mellitus using a cross-sectional and within-group design. METHODS: Subjects were individuals without dementia and with type 2 diabetes mellitus, including 107 individuals without OH and 94 with OH (DMOH); 95 control participants were also included...
August 9, 2019: Annals of Neurology
https://read.qxmd.com/read/31393626/connectomic-profiling-identifies-responders-to-vagus-nerve-stimulation
#18
Karim Mithani, Mirriam Mikhail, Benjamin R Morgan, Simeon Wong, Alexander G Weil, Sylvain Deschenes, Shelly Wang, Byron Bernal, Magno R Guillen, Ayako Ochi, Hiroshi Otsubo, Ivanna Yau, William Lo, Elizabeth Pang, Stephanie Holowka, O Carter Snead, Elizabeth Donner, James T Rutka, Cristina Go, Elysa Widjaja, George M Ibrahim
OBJECTIVE: Vagus nerve stimulation (VNS) is a common treatment for medically-intractable epilepsy, but response rates are highly variable with no pre-operative means of identifying good candidates. This study aimed to predict VNS response using structural and functional connectomic profiling. METHODS: Fifty-six children, comprising Discovery (N = 38) and Validation (N = 18) Cohorts, were recruited from three separate institutions. Diffusion tensor imaging was used to identify group differences in white-matter microstructure, which in turn informed beamforming of resting-state magnetoencephalography recordings...
August 8, 2019: Annals of Neurology
https://read.qxmd.com/read/31393621/exogenous-galactosylceramide-as-potential-treatment-for-cln3-disease
#19
Sally El-Sitt, Jihane Soueid, Katia Maalouf, Nadine Makhoul, Jamal Al Ali, Joelle Makoukji, Bilal Asser, Daniel Daou, Hayat Harati, Rose-Mary Boustany
OBJECTIVE: CLN3 disease is the commonest of the neuronal ceroid lipofuscinoses, a group of pediatric neurodegenerative disorders. Functions of the CLN3 protein include antiapoptotic properties and facilitating anterograde transport of galactosylceramide from Golgi to lipid rafts. This study confirms the beneficial effects of long-term exogenous galactosylceramide supplementation on longevity, neurobehavioral parameters, neuronal cell counts, astrogliosis, and diminution in brain and serum ceramide levels in Cln3 Δex7/8 knock-in mice...
August 8, 2019: Annals of Neurology
https://read.qxmd.com/read/31393618/paradoxical-effects-of-optogenetic-stimulation-in-mesial-temporal-lobe-epilepsy
#20
Maxime Lévesque, Li-Yuan Chen, Guillaume Etter, Zahra Shiri, Siyan Wang, Sylvain Williams, Massimo Avoli
OBJECTIVE: To establish the effects induced by long-term, unilateral stimulation of parvalbumin (PV)-positive interneurons on seizures, interictal spikes, and high-frequency oscillations (80-500Hz) occurring after pilocarpine-induced status epilepticus (SE)-a proven model of mesial temporal lobe epilepsy (MTLE)-in transgenic mice expressing or not expressing ChR2. METHODS: PV-ChR2 (n = 6) and PV-Cre (n = 6) mice were treated with pilocarpine to induce SE. Three hours after SE onset, unilateral optogenetic stimulation (450nm, 25mW, 20-millisecond pulses delivered at 8Hz for 30 seconds every 2 minutes) of CA3 PV-positive interneurons was implemented for 14 continuous days in both groups...
August 8, 2019: Annals of Neurology
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