An inflection point in gene discovery efforts for neurodegenerative diseases: from syndromic diagnoses toward endophenotypes and the epigenome.

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:Documentation of muscle pathology compatible with targeting of sarcolemmal aquaporin-4 (AQP4) by complement-activating IgG implies involvement of organs beyond the central nervous system in neuromyelitis optica spectrum disorders. OBSERVATIONS:We report on a 51-year-old woman who had relapsing optic neuriti...

journal_title：JAMA neurology

authors： Guo Y,Lennon VA,Popescu BF,Grouse CK,Topel J,Milone M,Lassmann H,Parisi JE,Pittock SJ,Stefoski D,Balabanov R,Lucchinetti CF

更新日期：2014-08-01 00:00:00

abstract：Importance:Apolipoprotein E ε4 (APOEε4) is the single most important genetic risk factor for Alzheimer disease. While APOEε4 is associated with increased amyloid-β burden, its association with cerebral tau pathology has been controversial. Objective:To determine whether APOEε4 is associated with medial temporal tau pa...

journal_title：JAMA neurology

authors： Therriault J,Benedet AL,Pascoal TA,Mathotaarachchi S,Chamoun M,Savard M,Thomas E,Kang MS,Lussier F,Tissot C,Parsons M,Qureshi MNI,Vitali P,Massarweh G,Soucy JP,Rej S,Saha-Chaudhuri P,Gauthier S,Rosa-Neto P

更新日期：2020-04-01 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: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：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: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:Recognizing the characteristics of myelin oligodendrocyte glycoprotein autoantibody (MOG-IgG) myelitis is essential for early accurate diagnosis and treatment. Objective:To evaluate the clinical, radiologic, and prognostic features of MOG-IgG myelitis and compare with myelitis with aquaporin-4-IgG (AQP4-IgG...

journal_title：JAMA neurology

authors： Dubey D,Pittock SJ,Krecke KN,Morris PP,Sechi E,Zalewski NL,Weinshenker BG,Shosha E,Lucchinetti CF,Fryer JP,Lopez-Chiriboga AS,Chen JC,Jitprapaikulsan J,McKeon A,Gadoth A,Keegan BM,Tillema JM,Naddaf E,Patterson MC,Me

更新日期：2019-03-01 00:00:00

abstract：Importance:Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective:To define the spectrum of clinical phenotypes associated with mutati...

journal_title：JAMA neurology

authors： Charif M,Nasca A,Thompson K,Gerber S,Makowski C,Mazaheri N,Bris C,Goudenège D,Legati A,Maroofian R,Shariati G,Lamantea E,Hopton S,Ardissone A,Moroni I,Giannotta M,Siegel C,Strom TM,Prokisch H,Vignal-Clermont C,Der

更新日期：2018-01-01 00:00:00

abstract：IMPORTANCE:Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD. OBJECTIVE:To...

journal_title：JAMA neurology

authors： Le Ber I,Camuzat A,Guerreiro R,Bouya-Ahmed K,Bras J,Nicolas G,Gabelle A,Didic M,De Septenville A,Millecamps S,Lenglet T,Latouche M,Kabashi E,Campion D,Hannequin D,Hardy J,Brice A,French Clinical and Genetic Research Net

更新日期：2013-11-01 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: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:Deposition of the pathological α-synuclein (αSynP) in the brain is the hallmark of synucleinopathies, including Parkinson disease (PD), Lewy body dementia (LBD), and multiple system atrophy (MSA). Whether real-time quaking-induced conversion (RT-QuIC) and protein misfolding cyclic amplification (PMCA) assays...

journal_title：JAMA neurology

authors： Wang Z,Becker K,Donadio V,Siedlak S,Yuan J,Rezaee M,Incensi A,Kuzkina A,Orrú CD,Tatsuoka C,Liguori R,Gunzler SA,Caughey B,Jimenez-Capdeville ME,Zhu X,Doppler K,Cui L,Chen SG,Ma J,Zou WQ

更新日期：2020-09-28 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: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: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：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:Mechanical thrombectomy (MT) improves clinical outcomes in patients with acute ischemic stroke (AIS) caused by a large vessel occlusion. However, it is not known whether intravenous thrombolysis (IVT) is of added benefit in patients undergoing MT. Objective:To examine whether treatment with IVT before MT wi...

journal_title：JAMA neurology

authors： Coutinho JM,Liebeskind DS,Slater LA,Nogueira RG,Clark W,Dávalos A,Bonafé A,Jahan R,Fischer U,Gralla J,Saver JL,Pereira VM

更新日期：2017-03-01 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: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:Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality. OBJECTIVE:To identify the underlying molecular cause ...

journal_title：JAMA neurology

authors： Mirzaa GM,Campbell CD,Solovieff N,Goold C,Jansen LA,Menon S,Timms AE,Conti V,Biag JD,Adams C,Boyle EA,Collins S,Ishak G,Poliachik S,Girisha KM,Yeung KS,Chung BHY,Rahikkala E,Gunter SA,McDaniel SS,Macmurdo CF,Ber

更新日期：2016-07-01 00:00:00

abstract：:IMPORTANCE The search for novel Alzheimer disease (AD) genes or pathologic mutations within known AD loci is ongoing. The development of array technologies has helped to identify rare recessive mutations among long runs of homozygosity (ROHs), in which both parental alleles are identical. Caribbean Hispanics are known...

journal_title：JAMA neurology

authors： Ghani M,Sato C,Lee JH,Reitz C,Moreno D,Mayeux R,St George-Hyslop P,Rogaeva E

更新日期：2013-10-01 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: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: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: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: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：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

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:The safety and efficacy of intensive systolic blood pressure reduction in patients with intracerebral hemorrhage who present with systolic blood pressure greater than 220 mm Hg appears to be unknown. Objective:To evaluate the differential outcomes of intensive (goal, 110-139 mm Hg) vs standard (goal, 140-17...

journal_title：JAMA neurology

authors： Qureshi AI,Huang W,Lobanova I,Barsan WG,Hanley DF,Hsu CY,Lin CL,Silbergleit R,Steiner T,Suarez JI,Toyoda K,Yamamoto H,for ATACH-II trial investigators.

更新日期：2020-09-08 00:00:00