Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

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：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: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: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: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:Glioblastoma is the most common primary malignant brain tumor, but despite multimodal treatment with surgery, radiotherapy, and temozolomide chemotherapy, the prognosis is poor, with a median survival of 16 to 19 months and poor quality of life throughout the disease course. New treatments are needed. EVIDE...

journal_title：JAMA neurology

authors： Thomas AA,Brennan CW,DeAngelis LM,Omuro AM

更新日期：2014-11-01 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: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:The goal of Alzheimer disease (AD) prevention together with advances in understanding the pathophysiology of AD have led to clinical trials testing drugs in cognitively unimpaired persons who show evidence of AD biomarkers. Data are needed to inform the processes of describing AD biomarkers to cognitively no...

journal_title：JAMA neurology

authors： Mozersky J,Sankar P,Harkins K,Hachey S,Karlawish J

更新日期：2018-01-01 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:Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and without comparison with the natural course of the disease. OBJECTIVE:To compare the l...

journal_title：JAMA neurology

authors： Groeschel S,Kühl JS,Bley AE,Kehrer C,Weschke B,Döring M,Böhringer J,Schrum J,Santer R,Kohlschütter A,Krägeloh-Mann I,Müller I

更新日期：2016-09-01 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: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: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: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: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: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: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: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: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: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：IMPORTANCE:Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. ...

journal_title：JAMA neurology

authors： Domingo A,Lee LV,Brüggemann N,Freimann K,Kaiser FJ,Jamora RD,Rosales RL,Klein C,Westenberger A

更新日期：2014-09-01 00:00:00

abstract：IMPORTANCE:Gait and cognition have been related to mortality in population-based studies. This association is possibly mediated by cerebral small vessel disease (SVD), which has been associated with mortality as well. It is unknown which factors can predict mortality in individuals with SVD. Identification of high-risk...

journal_title：JAMA neurology

authors： van der Holst HM,van Uden IW,Tuladhar AM,de Laat KF,van Norden AG,Norris DG,van Dijk EJ,Rutten-Jacobs LC,de Leeuw FE

更新日期：2016-04-01 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: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：Importance:Atabecestat, a nonselective oral β-secretase inhibitor, was evaluated in the EARLY trial for slowing cognitive decline in participants with preclinical Alzheimer disease. Preliminary analyses suggested dose-related cognitive worsening and neuropsychiatric adverse events (AEs). Objective:To report efficacy, ...

journal_title：JAMA neurology

authors： Sperling R,Henley D,Aisen PS,Raman R,Donohue MC,Ernstrom K,Rafii MS,Streffer J,Shi Y,Karcher K,Raghavan N,Tymofyeyev Y,Bogert J,Brashear HR,Novak G,Thipphawong J,Saad ZS,Kolb H,Rofael H,Sanga P,Romano G

更新日期：2021-01-19 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：: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: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