Macroglossia in amyotrophic lateral sclerosis.

abstract：Importance:In Huntington disease (HD), mutation severity is defined by the length of the CAG trinucleotide sequence, a well-known predictor of clinical onset age. The association with disease trajectory is less well characterized. Quantifiable summary measures of trajectory applicable over decades of early disease prog...

journal_title：JAMA neurology

authors： Langbehn DR,Stout JC,Gregory S,Mills JA,Durr A,Leavitt BR,Roos RAC,Long JD,Owen G,Johnson HJ,Borowsky B,Craufurd D,Reilmann R,Landwehrmeyer GB,Scahill RI,Tabrizi SJ,TRACK-HD and Track-On HD Groups.

更新日期：2019-08-12 00:00:00

abstract：IMPORTANCE:Symptoms in the genital region, such as pain, discomfort, tingling, and burning sensations, have rarely been reported in Parkinson disease (PD), and the previous cases were attributed to nonmotor off symptoms. We report a patient with PD and severe genital discomfort unrelated to motor fluctuations but compa...

journal_title：JAMA neurology

authors： Aquino CC,Mestre T,Lang AE

更新日期：2014-12-01 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:Limbic encephalitis that is associated with anti-voltage-gated potassium channel complex (VGKCC) antibodies (VGKCC syndrome) is an autoimmune, usually nonparaneoplastic form of encephalitis that is responsive to immunotherapy. Differentiating this treatable disease from others that have a similar presentatio...

journal_title：JAMA neurology

authors： Yoo JY,Hirsch LJ

更新日期：2014-01-01 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:Posterior cortical atrophy (PCA) is characterized by progressive visuoperceptual and visuospatial deficits and commonly considered to be an atypical variant of Alzheimer disease. Mutations of the GRN gene are responsible for a large phenotypic spectrum, but, to our knowledge, the association of PCA with GRN ...

journal_title：JAMA neurology

authors： Caroppo P,Belin C,Grabli D,Maillet D,De Septenville A,Migliaccio R,Clot F,Lamari F,Camuzat A,Brice A,Dubois B,Le Ber I

更新日期：2015-02-01 00:00:00

abstract：IMPORTANCE:Apolipoprotein E (APOE) ε4 is an established risk factor for cognitive decline and the development of dementia, but other factors may help to minimize its effects. OBJECTIVE:Using APOE ε4 as an indicator of high risk, we investigated factors associated with cognitive resilience among black and white older a...

journal_title：JAMA neurology

authors： Kaup AR,Nettiksimmons J,Harris TB,Sink KM,Satterfield S,Metti AL,Ayonayon HN,Yaffe K,Health, Aging, and Body Composition (Health ABC) Study.

更新日期：2015-03-01 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：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:The clinical role of amyloid brain positron emission tomographic imaging in the diagnosis of Alzheimer disease is currently being formulated. The specificity of a positive amyloid scan is a matter of contention. OBSERVATIONS:An 83-year-old Canadian man presented with a 5-year history of predominantly short-...

journal_title：JAMA neurology

authors： Ducharme S,Guiot MC,Nikelski J,Chertkow H

更新日期：2013-07-01 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: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:β-Amyloid (Aβ) deposition and vascular brain injury (VBI) frequently co-occur and are both associated with cognitive decline in aging. Determining whether a direct relationship exists between them has been challenging. We sought to understand VBI's influence on cognition and clinical impairment, separate fro...

journal_title：JAMA neurology

authors： Marchant NL,Reed BR,Sanossian N,Madison CM,Kriger S,Dhada R,Mack WJ,DeCarli C,Weiner MW,Mungas DM,Chui HC,Jagust WJ

更新日期：2013-04-01 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: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：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：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: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: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

abstract：IMPORTANCE:Alzheimer disease (AD) is a neurodegenerative disorder with no effective therapies. In 1984, the National Institute on Aging created the first 5 AD centers (ADCs) in an effort to coordinate research efforts into the pathology and treatment of the disease. Since that time, the ADC program has expanded to incl...

journal_title：JAMA neurology

authors： Hughes ME,Peeler J,Hogenesch JB,Trojanowski JQ

更新日期：2014-04-01 00:00:00

abstract：Importance:Literature on ictal magnetoencephalography (MEG) in clinical practice and the relationship to other modalities is limited because of the brevity of routine studies. Objective:To investigate the utility and reliability of ictal MEG in the localization of the epileptogenic zone. Design, Setting, and Particip...

journal_title：JAMA neurology

authors： Alkawadri R,Burgess RC,Kakisaka Y,Mosher JC,Alexopoulos AV

更新日期：2018-10-01 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: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:Double-seronegative myasthenia gravis (dSNMG) includes patients with myasthenia gravis (MG) without detectable antibodies to the nicotinic acetylcholine receptor (AChR) or to muscle-specific tyrosine kinase (MuSK). The lack of a biomarker hinders the diagnosis and clinical management in these patients. Corta...

journal_title：JAMA neurology

authors： Cortés-Vicente E,Gallardo E,Martínez MÁ,Díaz-Manera J,Querol L,Rojas-García R,Illa I

更新日期：2016-09-01 00:00:00

abstract：Importance:Early-onset Alzheimer disease (EOAD) is a rare form of Alzheimer disease (AD) with a large genetic basis that is only partially understood. In late-onset AD, elevated circulating cholesterol levels increase AD risk even after adjusting for the apolipoprotein E ε4 (APOE E4) allele, a major genetic factor for ...

journal_title：JAMA neurology

authors： Wingo TS,Cutler DJ,Wingo AP,Le NA,Rabinovici GD,Miller BL,Lah JJ,Levey AI

更新日期：2019-07-01 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: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: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: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

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