Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

abstract：Importance:The incidence of unprovoked seizures and epilepsy increases considerably in late life, with approximately one-third of seizures being of unknown etiology. While individuals with dementia have a high risk of developing unprovoked seizures, it is unknown whether older adults with late-onset unprovoked seizures...

journal_title：JAMA neurology

authors： Keret O,Hoang TD,Xia F,Rosen HJ,Yaffe K

更新日期：2020-06-01 00:00:00

abstract：Importance:Intracerebral hemorrhage (ICH) has the highest mortality of all stroke types and is the most serious complication of anticoagulation. Data regarding trends in ICH incidence and location-specific risk factors on the population level are conflicting. Objective:To assess long-term population-based trends in th...

journal_title：JAMA neurology

authors： Lioutas VA,Beiser AS,Aparicio HJ,Himali JJ,Selim MH,Romero JR,Seshadri S

更新日期：2020-06-08 00:00:00

abstract：Importance:The development and expansion of intracranial hematoma are associated with adverse outcomes. Use of tranexamic acid might limit intracranial hematoma formation, but its association with outcomes of severe traumatic brain injury (TBI) is unclear. Objective:To assess whether prehospital administration of tran...

journal_title：JAMA neurology

authors： Bossers SM,Loer SA,Bloemers FW,Den Hartog D,Van Lieshout EMM,Hoogerwerf N,van der Naalt J,Absalom AR,Peerdeman SM,Schwarte LA,Boer C,Schober P,BRAIN-PROTECT collaborators.

更新日期：2020-12-07 00:00:00

abstract：IMPORTANCE:While advances have been made in characterizing the C9ORF72 clinical phenotype, the hallmark features that discriminate between carriers and noncarriers remain unclear. OBJECTIVES:To determine the frequency of the C9ORF72 mutation in a frontotemporal dementia (FTD) cohort and to define the clinical, neurops...

journal_title：JAMA neurology

authors： Devenney E,Hornberger M,Irish M,Mioshi E,Burrell J,Tan R,Kiernan MC,Hodges JR

更新日期：2014-03-01 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: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：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: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: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:Mild traumatic brain injury (TBI) is experienced by 55.9 million people globally each year. The symptoms of mild TBI are diverse and sometimes long-lasting, requiring frequent use of pharmacological interventions to mitigate them. A thorough understanding of the data supporting pharmacological interventions ...

journal_title：JAMA neurology

authors： Feinberg C,Carr C,Zemek R,Yeates KO,Master C,Schneider K,Bell MJ,Wisniewski S,Mannix R

更新日期：2021-01-19 00:00:00

abstract：IMPORTANCE:This dose-blinded extension of the phase 2 BOLD (BAF312 on MRI Lesion Given Once Daily) Study in relapsing-remitting multiple sclerosis provides evidence on disease activity and safety of a range of siponimod doses for up to 24 months. OBJECTIVE:To assess the safety and efficacy of siponimod for up to 24 mo...

journal_title：JAMA neurology

authors： Kappos L,Li DK,Stüve O,Hartung HP,Freedman MS,Hemmer B,Rieckmann P,Montalban X,Ziemssen T,Hunter B,Arnould S,Wallström E,Selmaj K

更新日期：2016-09-01 00:00:00

abstract：:A young man with normal neurodevelopment presented with 3 years of medically refractory, progressive epilepsy and myoclonus. Initial examination included neuroimaging, electroencephalography, and biochemical analyses, all of which were unremarkable except for mildly enlarged ventricles. Over the following year, the pa...

journal_title：JAMA neurology

authors： Cohen AL,Jones LK,Parisi JE,Klaas JP

更新日期：2017-06-01 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：IMPORTANCE:To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE:To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN...

journal_title：JAMA neurology

authors： Serrano-Munuera C,Corral-Juan M,Stevanin G,San Nicolás H,Roig C,Corral J,Campos B,de Jorge L,Morcillo-Suárez C,Navarro A,Forlani S,Durr A,Kulisevsky J,Brice A,Sánchez I,Volpini V,Matilla-Dueñas A

更新日期：2013-06-01 00:00:00

abstract：Importance:Identification of genetic factors that interact with the apolipoprotein e4 (APOE4) allele to reduce risk for Alzheimer disease (AD) would accelerate the search for new AD drug targets. Klotho-VS heterozygosity (KL-VSHET+ status) protects against aging-associated phenotypes and cognitive decline, but whether ...

journal_title：JAMA neurology

authors： Belloy ME,Napolioni V,Han SS,Le Guen Y,Greicius MD,Alzheimer’s Disease Neuroimaging Initiative.

更新日期：2020-07-01 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:Circadian dysfunction may be associated with the symptoms and neurodegeneration in Parkinson disease (PD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP), although the underlying neuroanatomical site of disruption and pathophysiological mechanisms are not fully understood. Objective...

journal_title：JAMA neurology

authors： De Pablo-Fernández E,Courtney R,Warner TT,Holton JL

更新日期：2018-08-01 00:00:00

abstract：Importance:Although endovascular thrombectomy (EVT) in acute ischemic stroke is recommended by guidelines to improve functional recovery, thus far there are insufficient data on its association with mortality. Objective:To identify guideline-relevant trials of EVT vs medical therapy reporting 90-day mortality and perf...

journal_title：JAMA neurology

authors： Lin Y,Schulze V,Brockmeyer M,Parco C,Karathanos A,Heinen Y,Gliem M,Hartung HP,Antoch G,Jander S,Turowski B,Perings S,Kelm M,Wolff G

更新日期：2019-07-01 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:Voltage-gated potassium channel complex antibody (VGKCc-Ab) encephalitis is an immunotherapy-responsive syndrome usually associated with causative antibodies that target the leucine-rich, glioma inactivated 1 (LGI1) protein. Although it is expressed throughout the brain, LGI1 is not known to be expressed in ...

journal_title：JAMA neurology

authors： Naasan G,Irani SR,Bettcher BM,Geschwind MD,Gelfand JM

更新日期：2014-10-01 00:00:00

abstract：IMPORTANCE:Understanding the relationships between age-related changes in brain structure and cognitive function has been limited by inconsistent methods for assessing brain imaging, small sample sizes, and racially/ethnically homogeneous cohorts with biased selection based on risk factors. These limitations have preve...

journal_title：JAMA neurology

authors： Gupta M,King KS,Srinivasa R,Weiner MF,Hulsey K,Ayers CR,Whittemore A,McColl RW,Rossetti HC,Peshock RM

更新日期：2015-02-01 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:Cardiovascular disease (CVD) risk has not been previously evaluated in a large matched cohort study in idiopathic intracranial hypertension (IIH). Objectives:To estimate the risk of composite cardiovascular events, heart failure, ischemic heart disease, stroke/transient ischemic attack (TIA), type 2 diabete...

journal_title：JAMA neurology

authors： Adderley NJ,Subramanian A,Nirantharakumar K,Yiangou A,Gokhale KM,Mollan SP,Sinclair AJ

更新日期：2019-07-08 00:00:00

abstract：IMPORTANCE:Whether cognition is influenced by arterial stiffness in the absence of vascular disease remains uncertain. OBJECTIVE:To test the hypotheses that indirect measures of arterial stiffness are important predictors of cognitive performance and that this relationship varies depending on the presence of vascular ...

journal_title：JAMA neurology

authors： Gutierrez J,Marshall RS,Lazar RM

更新日期：2015-03-01 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:Markedly enlarged Virchow-Robin spaces throughout the striatum appear occasionally on magnetic resonance imaging (MRI) scans of the elderly, and this type of striatum is known as the Swiss cheese striatum (SCS); however, its clinical impact is unknown. OBJECTIVE:To determine the clinical features associated...

journal_title：JAMA neurology

authors： Burnett MS,Witte RJ,Ahlskog JE

更新日期：2014-06-01 00:00:00

abstract：Importance:Prognostication of neurologic outcome after cardiac arrest is an important but challenging aspect of patient therapy management in critical care units. Objective:To determine whether serum neurofilament light chain (NFL) levels can be used for prognostication of neurologic outcome after cardiac arrest. Des...

journal_title：JAMA neurology

authors： Moseby-Knappe M,Mattsson N,Nielsen N,Zetterberg H,Blennow K,Dankiewicz J,Dragancea I,Friberg H,Lilja G,Insel PS,Rylander C,Westhall E,Kjaergaard J,Wise MP,Hassager C,Kuiper MA,Stammet P,Wanscher MCJ,Wetterslev J,Erl

更新日期：2019-01-01 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: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：IMPORTANCE:Aquaporin 4 antibody (AQP4-Ab)-negative patients with longitudinally extensive transverse myelitis (LETM) behave differently from those with AQP4-Ab. Aquaporin 4 antibody-negative neuromyelitis optica (NMO) is rare when good assays are used. OBJECTIVE:To assess if AQP4-Ab-negative patients with LETM share s...

journal_title：JAMA neurology

authors： Kitley J,Leite MI,Küker W,Quaghebeur G,George J,Waters P,Woodhall M,Vincent A,Palace J

更新日期：2013-11-01 00:00:00