SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

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:The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. OBJECTIVE:To investigate a large family with late-onset AD (LOAD)...

journal_title：JAMA neurology

authors： Korvatska O,Leverenz JB,Jayadev S,McMillan P,Kurtz I,Guo X,Rumbaugh M,Matsushita M,Girirajan S,Dorschner MO,Kiianitsa K,Yu CE,Brkanac Z,Garden GA,Raskind WH,Bird TD

更新日期：2015-08-01 00:00:00

abstract：IMPORTANCE:There is a deficit of pituitary adenylate cyclase-activating polypeptide (PACAP) in patients with neuropathologically confirmed Alzheimer dementia. However, whether this deficit is associated with the earlier stages of Alzheimer disease (AD) is unknown. This study was conducted to clarify the association bet...

journal_title：JAMA neurology

authors： Han P,Caselli RJ,Baxter L,Serrano G,Yin J,Beach TG,Reiman EM,Shi J

更新日期：2015-03-01 00:00:00

abstract：Importance:Chronic subdural hematoma (CSDH) is a trauma-associated condition commonly found in elderly patients. Surgery is currently the treatment of choice, but it carries a significant risk of recurrence and death. Nonsurgical treatments remain limited and ineffective. Our recent studies suggest that atorvastatin re...

journal_title：JAMA neurology

authors： Jiang R,Zhao S,Wang R,Feng H,Zhang J,Li X,Mao Y,Yuan X,Fei Z,Zhao Y,Yu X,Poon WS,Zhu X,Liu N,Kang D,Sun T,Jiao B,Liu X,Yu R,Zhang J,Gao G,Hao J,Su N,Yin G,Zhu X,Lu Y,Wei J,Hu J,Hu R,Li J,Wang D

更新日期：2018-11-01 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:This study reports the long-term epidemiologic trends of amyotrophic lateral sclerosis (ALS) based on a prospective register. Objective:To examine the 20-year epidemiologic trends of ALS in the Piemonte and Valle d'Aosta regions of Italy. Design, Setting, and Participants:The Piemonte and Valle d'Aosta Reg...

journal_title：JAMA neurology

authors： Chiò A,Mora G,Moglia C,Manera U,Canosa A,Cammarosano S,Ilardi A,Bertuzzo D,Bersano E,Cugnasco P,Grassano M,Pisano F,Mazzini L,Calvo A,Piemonte and Valle d’Aosta Register for ALS (PARALS).

更新日期：2017-09-01 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：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: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:Converging evidence suggests that Alzheimer disease (AD) involves insulin signaling impairment. Patients with AD and individuals at risk for AD show reduced glucose metabolism, as indexed by fludeoxyglucose F 18-labeled positron emission tomography (FDG-PET). OBJECTIVES:To determine whether insulin resistan...

journal_title：JAMA neurology

authors： Willette AA,Bendlin BB,Starks EJ,Birdsill AC,Johnson SC,Christian BT,Okonkwo OC,La Rue A,Hermann BP,Koscik RL,Jonaitis EM,Sager MA,Asthana S

更新日期：2015-09-01 00:00:00

abstract：Importance:Cognitive impairment in multiple sclerosis (MS) can lead to reduced quality of life, social functioning, and employment. Few studies have investigated cognitive outcomes among patients with pediatric-onset MS (POMS) over the long term. Objective:To compare long-term information-processing efficiency between...

journal_title：JAMA neurology

authors： McKay KA,Manouchehrinia A,Berrigan L,Fisk JD,Olsson T,Hillert J

更新日期：2019-06-17 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: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：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: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: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: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: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：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:We encountered 2 patients with amyotrophic lateral sclerosis (ALS) with tongue enlargement and protrusion outside the oral cavity (macroglossia). To our knowledge, the relationship between macroglossia and ALS has not been reported in the literature. The objective of this article was to describe the clinical...

journal_title：JAMA neurology

authors： McKee HR,Escott E,Damm D,Kasarskis E

更新日期：2013-11-01 00:00:00

abstract：Importance:Although levodopa remains the most effective oral pharmacotherapy for Parkinson disease (PD), its use is often limited by wearing off effect and dyskinesias. Management of such complications continues to be a significant challenge. Objective:To investigate the efficacy and safety of safinamide (an oral amin...

journal_title：JAMA neurology

authors： Schapira AH,Fox SH,Hauser RA,Jankovic J,Jost WH,Kenney C,Kulisevsky J,Pahwa R,Poewe W,Anand R

更新日期：2017-02-01 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: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:Galcanezumab (LY2951742), a monoclonal antibody against calcitonin gene-related peptide (CGRP), is one of a novel class of new medicines for migraine prevention. Objective:To assess whether at least 1 dose of galcanezumab was superior to placebo for episodic migraine prevention. Design, Setting, and Partic...

journal_title：JAMA neurology

authors： Skljarevski V,Oakes TM,Zhang Q,Ferguson MB,Martinez J,Camporeale A,Johnson KW,Shan Q,Carter J,Schacht A,Goadsby PJ,Dodick DW

更新日期：2018-02-01 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: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：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: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:Metabolic syndrome (MetS) is thought to influence several autoimmune diseases, including multiple sclerosis (MS). Anti-inflammatory effects of treatments used for MetS, such as metformin hydrochloride and pioglitazone hydrochloride, have been demonstrated, although clinical evidence supporting use of these t...

journal_title：JAMA neurology

authors： Negrotto L,Farez MF,Correale J

更新日期：2016-05-01 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