Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.

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：BACKGROUND:Therapies designed to decrease the level of SOD1 are currently in a clinical trial for patients with superoxide dismutase (SOD1)-linked familial amyotrophic lateral sclerosis (ALS). OBJECTIVE:To determine whether the SOD1 protein in cerebral spinal fluid (CSF) may be a pharmacodynamic marker for antisense o...

journal_title：JAMA neurology

authors： Winer L,Srinivasan D,Chun S,Lacomis D,Jaffa M,Fagan A,Holtzman DM,Wancewicz E,Bennett CF,Bowser R,Cudkowicz M,Miller TM

更新日期：2013-02-01 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) core Alzheimer disease (AD) biomarkers have shown an excellent capacity for the in vivo detection of AD. Previous studies have shown that CSF levels of phosphorylated tau (p-tau) also correlate with tau pathology in frontotemporal lobar degeneration (FTLD) after accounting for AD co...

journal_title：JAMA neurology

authors： Lleó A,Irwin DJ,Illán-Gala I,McMillan CT,Wolk DA,Lee EB,Van Deerlin VM,Shaw LM,Trojanowski JQ,Grossman M

更新日期：2018-06-01 00:00:00

abstract：Importance:The pathophysiologic mechanisms of Guillain-Barré syndrome (GBS) associated with Zika virus (ZIKV) infection may be indicated by differences in clinical features. Objective:To identify specific clinical features of GBS associated with ZIKV infection. Design, Setting, and Participants:During the ZIKV epidem...

journal_title：JAMA neurology

authors： Dirlikov E,Major CG,Medina NA,Lugo-Robles R,Matos D,Muñoz-Jordan JL,Colon-Sanchez C,Garcia M,Olivero-Segarra M,Malave G,Rodríguez-Vega GM,Thomas DL,Waterman SH,Sejvar JJ,Luciano CA,Sharp TM,Rivera-García B

更新日期：2018-09-01 00:00:00

abstract：IMPORTANCE:Blast injury has been identified as the signature injury in the conflicts in Iraq and Afghanistan. However it remains to be determined whether fundamental differences may exist between blast-related traumatic brain injury (TBI) and TBI due to other mechanisms. OBJECTIVES:To determine similarities and differ...

journal_title：JAMA neurology

authors： Mac Donald CL,Johnson AM,Wierzechowski L,Kassner E,Stewart T,Nelson EC,Werner NJ,Zonies D,Oh J,Fang R,Brody DL

更新日期：2014-08-01 00:00:00

abstract：Importance:Amyotrophic lateral sclerosis (ALS) is a common adult-onset neurodegenerative disease characterized by selective loss of upper and lower motor neurons. Patients with ALS have persistent peripheral and central inflammatory responses including abnormally functioning T cells and activated microglia. However, mu...

journal_title：JAMA neurology

authors： Zhao W,Beers DR,Hooten KG,Sieglaff DH,Zhang A,Kalyana-Sundaram S,Traini CM,Halsey WS,Hughes AM,Sathe GM,Livi GP,Fan GH,Appel SH

更新日期：2017-06-01 00:00:00

abstract：OBJECTIVE:To assess the reliability of new magnetic resonance imaging (MRI) lesion counts by clinicians in a multiple sclerosis specialty clinic. DESIGN:An observational study. SETTING:A multiple sclerosis specialty clinic. PATIENTS:Eighty-five patients with multiple sclerosis participating in a National Institutes ...

journal_title：JAMA neurology

authors： Erbayat Altay E,Fisher E,Jones SE,Hara-Cleaver C,Lee JC,Rudick RA

更新日期：2013-03-01 00:00:00

abstract：IMPORTANCE:Smoking tobacco is a well-established risk factor for multiple sclerosis (MS), a chronic inflammatory disorder of the central nervous system usually characterized by bouts and remissions and typically followed by a secondary progressive (SP) course. However, it is not clear whether smoking after diagnosis is...

journal_title：JAMA neurology

authors： Ramanujam R,Hedström AK,Manouchehrinia A,Alfredsson L,Olsson T,Bottai M,Hillert J

更新日期：2015-10-01 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

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:Given the high frequency of failure of first-line therapies, there is an urgent need for second-line treatment strategies for pediatric patients with multiple sclerosis (MS). OBJECTIVE:To report the use of natalizumab in pediatric MS. Natalizumab, a humanized monoclonal antibody targeting α4 integrin, is ef...

journal_title：JAMA neurology

authors： Kornek B,Aboul-Enein F,Rostasy K,Milos RI,Steiner I,Penzien J,Hellwig K,Pitarokoili K,Storm van's Gravesande K,Karenfort M,Blaschek A,Meyer A,Seidl R,Debelic D,Vass K,Prayer D,Kristoferitsch W,Bayas A

更新日期：2013-04-01 00:00:00

abstract：Importance:Scientific and lay interest in negative outcomes associated with exposure to repetitive brain trauma (RBT) continues to strengthen. Concerns about the association between RBT and dementia began more than a century ago, but have resurfaced in the last decade with the more recently described chronic traumatic ...

journal_title：JAMA neurology

authors： Asken BM,Sullan MJ,DeKosky ST,Jaffee MS,Bauer RM

更新日期：2017-10-01 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:Mild strokes have been poorly represented in thrombolytic trials and only a few series have reported outcomes after treatment with intravenous (IV) recombinant tissue plasminogen activator (rtPA) after mild stroke. OBJECTIVE:To report treatment complications and short-term outcomes in patients with mild str...

journal_title：JAMA neurology

authors： Romano JG,Smith EE,Liang L,Gardener H,Camp S,Shuey L,Cook A,Campo-Bustillo I,Khatri P,Bhatt DL,Fonarow GC,Sacco RL,Schwamm LH

更新日期：2015-04-01 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: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：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：OBJECTIVE:In this review article, we focus on the molecular pathogenic basis for genetic generalized epilepsies associated with mutations in the inhibitory γ-aminobutyric acid (GABAA) receptor γ2 subunit gene, GABRG2 (OMIM 137164), an established epilepsy gene. OBSERVATIONS:The γ-aminobutyric acid (GABAA) receptor γ2 ...

journal_title：JAMA neurology

authors： Kang JQ,Macdonald RL

更新日期：2016-08-01 00:00:00

abstract：IMPORTANCE:Neurogranin (NGRN) seems to be a promising novel cerebrospinal fluid (CSF) biomarker for synaptic loss; however, clinical, and especially longitudinal, data are sparse. OBJECTIVE:To examine the utility of NGRN, with repeated CSF sampling, for diagnosis, prognosis, and monitoring of Alzheimer disease (AD). ...

journal_title：JAMA neurology

authors： Kester MI,Teunissen CE,Crimmins DL,Herries EM,Ladenson JH,Scheltens P,van der Flier WM,Morris JC,Holtzman DM,Fagan AM

更新日期：2015-11-01 00:00:00

abstract：IMPORTANCE:The frequency and distribution of synucleinopathies and tauopathies manifesting with parkinsonism in the general population are poorly understood, thus affecting health care planning and research. OBJECTIVE:To investigate the incidence and distribution of specific types of parkinsonism and related proteinop...

journal_title：JAMA neurology

authors： Savica R,Grossardt BR,Bower JH,Ahlskog JE,Rocca WA

更新日期：2013-07-01 00:00:00

abstract：Importance:Mild cognitive impairment (MCI) is a transition state between normal cognitive aging and dementia that increases the risk for progressive cognitive decline. Preventing cognitive decline is a public health priority. Objective:To determine whether behavioral activation prevents cognitive and functional declin...

journal_title：JAMA neurology

authors： Rovner BW,Casten RJ,Hegel MT,Leiby B

更新日期：2018-12-01 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:Prolonged seizures in super-refractory status epilepticus (SRSE) have been shown to cause neuronal death and reorganization, and visual inspection in individual case studies has demonstrated progressive cortical and subcortical atrophy. At present, magnetic resonance imaging (MRI) studies that evaluate brain...

journal_title：JAMA neurology

authors： Hocker S,Nagarajan E,Rabinstein AA,Hanson D,Britton JW

更新日期：2016-10-01 00:00:00

abstract：Importance:Periodic discharges (PDs) that do not meet seizure criteria, also termed the ictal interictal continuum, are pervasive on electroencephalographic (EEG) recordings after acute brain injury. However, their association with brain homeostasis and the need for clinical intervention remain unknown. Objective:To d...

journal_title：JAMA neurology

authors： Witsch J,Frey HP,Schmidt JM,Velazquez A,Falo CM,Reznik M,Roh D,Agarwal S,Park S,Connolly ES,Claassen J

更新日期：2017-03-01 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：Importance:Randomized clinical trials have shown the efficacy of thrombectomy of large intracranial vessel occlusions in adults; however, any association of therapy with clinical outcomes in children is unknown. Objective:To evaluate the use of endovascular recanalization in pediatric patients with arterial ischemic s...

journal_title：JAMA neurology

authors： Sporns PB,Sträter R,Minnerup J,Wiendl H,Hanning U,Chapot R,Henkes H,Henkes E,Grams A,Dorn F,Nikoubashman O,Wiesmann M,Bier G,Weber A,Broocks G,Fiehler J,Brehm A,Psychogios M,Kaiser D,Yilmaz U,Morotti A,Marik W,

更新日期：2020-01-01 00:00:00

abstract：IMPORTANCE:Hematoma volume is the strongest predictor of outcome in intracerebral hemorrhage (ICH). Despite known differences in the underlying biology between deep and lobar ICHs, limited data are available on location specificity of factors reported to affect hematoma volume. OBJECTIVE:To evaluate whether determinan...

journal_title：JAMA neurology

authors： Falcone GJ,Biffi A,Brouwers HB,Anderson CD,Battey TW,Ayres AM,Vashkevich A,Schwab K,Rost NS,Goldstein JN,Viswanathan A,Greenberg SM,Rosand J

更新日期：2013-08-01 00:00:00

abstract：Importance:A neurophysiologic signature of the melanopsin-mediated persistent constriction phase of the pupillary light reflex may represent a surrogate biomarker for the integrity of the retinohypothalamic tract, with potential utility for investigating alterations in homeostatic mechanisms associated with brain disor...

journal_title：JAMA neurology

authors： Meltzer E,Sguigna PV,Subei A,Beh S,Kildebeck E,Conger D,Conger A,Lucero M,Frohman BS,Frohman AN,Saidha S,Galetta S,Calabresi PA,Rennaker R,Frohman TC,Kardon RH,Balcer LJ,Frohman EM

更新日期：2017-05-01 00:00:00

abstract：Importance:Doses of fingolimod lower than 0.5 mg per day were not investigated during the fingolimod clinical development program. Whether lower doses of fingolimod might retain efficacy with fewer safety risks remains unknown. Objective:To evaluate the efficacy and safety of fingolimod, 0.5 mg, and fingolimod, 0.25 m...

journal_title：JAMA neurology

authors： Cree BAC,Goldman MD,Corboy JR,Singer BA,Fox EJ,Arnold DL,Ford C,Weinstock-Guttman B,Bar-Or A,Mientus S,Sienkiewicz D,Zhang Y,Karan R,Tenenbaum N,ASSESS Trial Investigators.

更新日期：2020-08-24 00:00:00