JC polyomavirus granule cell neuronopathy in a patient treated with rituximab.

abstract：Importance:Emerging yet contrasting evidence associates air pollution with incident dementia, and the potential role of cardiovascular disease (CVD) in this association is unclear. Objective:To investigate the association between long-term exposure to air pollution and dementia and to assess the role of CVD in that as...

journal_title：JAMA neurology

authors： Grande G,Ljungman PLS,Eneroth K,Bellander T,Rizzuto D

更新日期：2020-07-01 00:00:00

abstract：IMPORTANCE:Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality. OBJECTIVE:To identify the underlying molecular cause ...

journal_title：JAMA neurology

authors： Mirzaa GM,Campbell CD,Solovieff N,Goold C,Jansen LA,Menon S,Timms AE,Conti V,Biag JD,Adams C,Boyle EA,Collins S,Ishak G,Poliachik S,Girisha KM,Yeung KS,Chung BHY,Rahikkala E,Gunter SA,McDaniel SS,Macmurdo CF,Ber

更新日期：2016-07-01 00:00:00

abstract：BACKGROUND:Approximately 10% to 14% of ischemic strokes occur in young adults. OBJECTIVE:To investigate the yield of diagnostic tests, neuroimaging findings, and treatment of ischemic strokes in young adults. DESIGN:We retrospectively reviewed data from our Get with the Guidelines-Stroke database from 2005 through 20...

journal_title：JAMA neurology

authors： Ji R,Schwamm LH,Pervez MA,Singhal AB

更新日期：2013-01-01 00:00:00

abstract：IMPORTANCE:Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory disorder of the central nervous system. Recently, various immunosuppressant medications were introduced as therapeutic options for preventing relapse of NMOSD. However, our understanding of the effectiveness of mycophenolate mofetil...

journal_title：JAMA neurology

authors： Huh SY,Kim SH,Hyun JW,Joung AR,Park MS,Kim BJ,Kim HJ

更新日期：2014-11-01 00:00:00

abstract：Importance:Collective evidence has strongly suggested that deep brain stimulation (DBS) is a promising therapy for Tourette syndrome. Objective:To assess the efficacy and safety of DBS in a multinational cohort of patients with Tourette syndrome. Design, Setting, and Participants:The prospective International Deep Br...

journal_title：JAMA neurology

authors： Martinez-Ramirez D,Jimenez-Shahed J,Leckman JF,Porta M,Servello D,Meng FG,Kuhn J,Huys D,Baldermann JC,Foltynie T,Hariz MI,Joyce EM,Zrinzo L,Kefalopoulou Z,Silburn P,Coyne T,Mogilner AY,Pourfar MH,Khandhar SM,Auyeung

更新日期：2018-03-01 00:00:00

abstract：IMPORTANCE:Intravenous recombinant tissue plasminogen activator (alteplase) was approved by the US Food and Drug Administration in 1996 for the treatment of acute ischemic stroke. Nearly 20 years later, it remains the only approved treatment, despite limitations in both efficacy and safety. With a growing capacity for ...

journal_title：JAMA neurology

authors： Marshall RS

更新日期：2015-08-01 00:00:00

abstract：Importance:Interictal epileptiform discharges (IEDs) in electroencephalograms (EEGs) are a biomarker of epilepsy, seizure risk, and clinical decline. However, there is a scarcity of experts qualified to interpret EEG results. Prior attempts to automate IED detection have been limited by small samples and have not demon...

journal_title：JAMA neurology

authors： Jing J,Sun H,Kim JA,Herlopian A,Karakis I,Ng M,Halford JJ,Maus D,Chan F,Dolatshahi M,Muniz C,Chu C,Sacca V,Pathmanathan J,Ge W,Dauwels J,Lam A,Cole AJ,Cash SS,Westover MB

更新日期：2020-01-01 00:00:00

abstract：OBJECTIVE:To determine, in patients identified as seropositive for neuronal voltage-gated potassium channel (VGKC) complex autoantibodies, the spectrum of clinical presentations and frequency of leucine-rich glioma-inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) as defined antigenic neuron...

journal_title：JAMA neurology

authors： Klein CJ,Lennon VA,Aston PA,McKeon A,O'Toole O,Quek A,Pittock SJ

更新日期：2013-02-01 00:00:00

abstract：:IMPORTANCE The search for novel Alzheimer disease (AD) genes or pathologic mutations within known AD loci is ongoing. The development of array technologies has helped to identify rare recessive mutations among long runs of homozygosity (ROHs), in which both parental alleles are identical. Caribbean Hispanics are known...

journal_title：JAMA neurology

authors： Ghani M,Sato C,Lee JH,Reitz C,Moreno D,Mayeux R,St George-Hyslop P,Rogaeva E

更新日期：2013-10-01 00:00:00

abstract：Importance:The goal of preclinical Alzheimer disease (AD) clinical trials is to move diagnosis and treatment to presymptomatic stages, which will require biomarker testing and disclosure. Objective:To assess the short-term psychological outcomes of disclosing amyloid positron emission tomography results to older adult...

journal_title：JAMA neurology

authors： Grill JD,Raman R,Ernstrom K,Sultzer DL,Burns JM,Donohue MC,Johnson KA,Aisen PS,Sperling RA,Karlawish J,A4 Study Team.

更新日期：2020-08-10 00:00:00

abstract：Importance:Intravenous thrombolysis (IVT) followed by mechanical thrombectomy (MT) is recommended to treat acute ischemic stroke (AIS) with a large vessel occlusion (LVO). Most hospitals do not have on-site MT facilities, and most patients need to be transferred secondarily after IVT (drip and ship), which may have an ...

journal_title：JAMA neurology

authors： Gerschenfeld G,Muresan IP,Blanc R,Obadia M,Abrivard M,Piotin M,Alamowitch S

更新日期：2017-05-01 00:00:00

abstract：Importance:Large-scale genome-wide association studies in the European population have identified 90 risk variants associated with Parkinson disease (PD); however, there are limited studies in the largest population worldwide (ie, Asian). Objectives:To identify novel genome-wide significant loci for PD in Asian indivi...

journal_title：JAMA neurology

authors： Foo JN,Chew EGY,Chung SJ,Peng R,Blauwendraat C,Nalls MA,Mok KY,Satake W,Toda T,Chao Y,Tan LCS,Tandiono M,Lian MM,Ng EY,Prakash KM,Au WL,Meah WY,Mok SQ,Annuar AA,Chan AYY,Chen L,Chen Y,Jeon BS,Jiang L,Lim J

更新日期：2020-06-01 00:00:00

abstract：Importance:Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective:To define the spectrum of clinical phenotypes associated with mutati...

journal_title：JAMA neurology

authors： Charif M,Nasca A,Thompson K,Gerber S,Makowski C,Mazaheri N,Bris C,Goudenège D,Legati A,Maroofian R,Shariati G,Lamantea E,Hopton S,Ardissone A,Moroni I,Giannotta M,Siegel C,Strom TM,Prokisch H,Vignal-Clermont C,Der

更新日期：2018-01-01 00:00:00

abstract：IMPORTANCE:Studies have shown that both high and low blood pressure (BP) may play a role in the etiology of brain atrophy. High BP in midlife has been associated with more brain atrophy later in life, whereas studies in older populations have shown a relation between low BP and more brain atrophy. Yet, prospective evid...

journal_title：JAMA neurology

authors： Jochemsen HM,Muller M,Visseren FL,Scheltens P,Vincken KL,Mali WP,van der Graaf Y,Geerlings MI,SMART Study Group.

更新日期：2013-08-01 00:00:00

abstract：Importance:Functional neurological disorders (FND) are common sources of disability in medicine. Patients have often been misdiagnosed, correctly diagnosed after lengthy delays, and/or subjected to poorly delivered diagnoses that prevent diagnostic understanding and lead to inappropriate treatments, iatrogenic harm, un...

journal_title：JAMA neurology

authors： Espay AJ,Aybek S,Carson A,Edwards MJ,Goldstein LH,Hallett M,LaFaver K,LaFrance WC Jr,Lang AE,Nicholson T,Nielsen G,Reuber M,Voon V,Stone J,Morgante F

更新日期：2018-09-01 00:00:00

abstract：IMPORTANCE:Many clinical trials focus on restricting hematoma expansion following acute intracerebral hemorrhage (ICH), but selecting those patients at highest risk of hematoma expansion is challenging. OBJECTIVE:To develop a prediction score for hematoma expansion in patients with primary ICH. DESIGN, SETTING, AND P...

journal_title：JAMA neurology

authors： Brouwers HB,Chang Y,Falcone GJ,Cai X,Ayres AM,Battey TW,Vashkevich A,McNamara KA,Valant V,Schwab K,Orzell SC,Bresette LM,Feske SK,Rost NS,Romero JM,Viswanathan A,Chou SH,Greenberg SM,Rosand J,Goldstein JN

更新日期：2014-02-01 00:00:00

abstract：IMPORTANCE:Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined. OBSERVATIONS:Whole-exome sequencing identified a novel, heterozyg...

journal_title：JAMA neurology

authors： Gorman GS,Pfeffer G,Griffin H,Blakely EL,Kurzawa-Akanbi M,Gabriel J,Sitarz K,Roberts M,Schoser B,Pyle A,Schaefer AM,McFarland R,Turnbull DM,Horvath R,Chinnery PF,Taylor RW

更新日期：2015-01-01 00:00:00

abstract：Importance:As the life expectancy of people with Down syndrome (DS) has markedly increased over the past decades, older adults with DS may be experiencing a higher incidence of aging conditions. In addition to longevity, the amyloid precursor protein gene located on chromosome 21 places individuals with DS at a high ri...

journal_title：JAMA neurology

authors： Bayen E,Possin KL,Chen Y,Cleret de Langavant L,Yaffe K

更新日期：2018-11-01 00:00:00

abstract：IMPORTANCE:Magnetic resonance imaging markers of incipient cognitive decline among healthy elderly individuals have become important for both clarifying the biological underpinnings of dementia and clinically identifying healthy individuals at high risk of cognitive decline. Even though the role of hippocampal atrophy ...

journal_title：JAMA neurology

authors： Fletcher E,Raman M,Huebner P,Liu A,Mungas D,Carmichael O,DeCarli C

更新日期：2013-11-01 00:00:00

abstract：:We are at an inflection point in our study of the human genome as it relates to neurodegenerative disease. The sequencing of the human genome, and its associated cataloging of human genetic variation and technological as well as methodological development, introduced a period of rapid gene discovery over the past deca...

journal_title：JAMA neurology

authors： De Jager PL,Bennett DA

更新日期：2013-06-01 00:00:00

abstract：:A 63-year-old man presented with a 4-year history of insidious onset and gradual progression of visual symptoms including right homonymous hemianopsia, alexia, and simultanagnosia with preserved memory. Magnetic resonance imaging, perfusion single-photon emission computed tomography, and fluorodeoxyglucose positron em...

journal_title：JAMA neurology

authors： Mitchell SB,Lucente D,Larvie M,Cobos MI,Frosch M,Dickerson BC

更新日期：2017-01-01 00:00:00

abstract：IMPORTANCE:Cerebrospinal fluid (CSF) is the compartment in closest proximity to the central nervous system (CNS) parenchyma and might reflect immune pathology in inflammatory CNS disorders like multiple sclerosis (MS). Multiparameter flow cytometry is used to characterize immunological alterations in the CSF of patient...

journal_title：JAMA neurology

authors： Alvermann S,Hennig C,Stüve O,Wiendl H,Stangel M

更新日期：2014-07-01 00:00:00

abstract：Importance:YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives:To review the clinical...

journal_title：JAMA neurology

authors： Sommerville EW,Ng YS,Alston CL,Dallabona C,Gilberti M,He L,Knowles C,Chin SL,Schaefer AM,Falkous G,Murdoch D,Longman C,de Visser M,Bindoff LA,Rawles JM,Dean JCS,Petty RK,Farrugia ME,Haack TB,Prokisch H,McFarland R

更新日期：2017-06-01 00:00:00

abstract：Importance:Basket-design clinical trials that allow investigation of treatment effects on different clinical syndromes that share the same molecular pathophysiology have not previously been attempted in neurodegenerative disease. Objective:To assess the safety, tolerability, and pharmacodynamics of the microtubule sta...

journal_title：JAMA neurology

authors： Tsai RM,Miller Z,Koestler M,Rojas JC,Ljubenkov PA,Rosen HJ,Rabinovici GD,Fagan AM,Cobigo Y,Brown JA,Jung JI,Hare E,Geldmacher DS,Natelson-Love M,McKinley EC,Luong PN,Chuu EL,Powers R,Mumford P,Wolf A,Wang P,Sham

更新日期：2020-02-01 00:00:00

abstract：Importance:Estimated base rates of invalid performance on baseline testing (base rates of failure) for the management of sport-related concussion range from 6.1% to 40.0%, depending on the validity indicator used. The instability of this key measure represents a challenge in the clinical interpretation of test results ...

journal_title：JAMA neurology

authors： Abeare CA,Messa I,Zuccato BG,Merker B,Erdodi L

更新日期：2018-06-01 00:00:00

abstract：IMPORTANCE:Cerebral microbleeds (CMBs) have been established as an independent predictor of cerebral bleeding. There are contradictory data regarding the potential association of CMB burden with the risk of symptomatic intracerebral hemorrhage (sICH) in patients with acute ischemic stroke (AIS) treated with intravenous...

journal_title：JAMA neurology

authors： Tsivgoulis G,Zand R,Katsanos AH,Turc G,Nolte CH,Jung S,Cordonnier C,Fiebach JB,Scheitz JF,Klinger-Gratz PP,Oppenheim C,Goyal N,Safouris A,Mattle HP,Alexandrov AW,Schellinger PD,Alexandrov AV

更新日期：2016-06-01 00:00:00

abstract：IMPORTANCE:Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment improves outcomes and on new genetic therapies that require early diagnosis for effectiveness. Elevated creatine kinase levels in the neonatal period are the in...

journal_title：JAMA neurology

authors： Gatheridge MA,Kwon JM,Mendell JM,Scheuerbrandt G,Moat SJ,Eyskens F,Rockman-Greenberg C,Drousiotou A,Griggs RC

更新日期：2016-01-01 00:00:00

abstract：Importance:Neurofilament light protein (NfL) is elevated in cerebrospinal fluid (CSF) of a number of neurological conditions compared with healthy controls (HC) and is a candidate biomarker for neuroaxonal damage. The influence of age and sex is largely unknown, and levels across neurological disorders have not been co...

journal_title：JAMA neurology

authors： Bridel C,van Wieringen WN,Zetterberg H,Tijms BM,Teunissen CE,and the NFL Group.,Alvarez-Cermeño JC,Andreasson U,Axelsson M,Bäckström DC,Bartos A,Bjerke M,Blennow K,Boxer A,Brundin L,Burman J,Christensen T,Fialová L,Fo

更新日期：2019-06-17 00:00:00

abstract：IMPORTANCE:Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72. OBSERVATIONS:A 65-year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed as ...

journal_title：JAMA neurology

authors： Goldman JS,Quinzii C,Dunning-Broadbent J,Waters C,Mitsumoto H,Brannagan TH 3rd,Cosentino S,Huey ED,Nagy P,Kuo SH

更新日期：2014-06-01 00:00:00

abstract：Importance:The central vein sign has been proposed as a specific imaging biomarker for distinguishing between multiple sclerosis (MS) and not MS, mainly based on findings from ultrahigh-field magnetic resonance imaging (MRI) studies. The diagnostic value of the central vein sign in a multicenter setting with a variety ...

journal_title：JAMA neurology

authors： Sinnecker T,Clarke MA,Meier D,Enzinger C,Calabrese M,De Stefano N,Pitiot A,Giorgio A,Schoonheim MM,Paul F,Pawlak MA,Schmidt R,Kappos L,Montalban X,Rovira À,Evangelou N,Wuerfel J,MAGNIMS Study Group.

更新日期：2019-12-01 00:00:00