Genetics of epilepsy: The testimony of twins in the molecular era.

abstract：:Cocaine, especially in its alkaloidal or "crack" form, has been increasingly associated with cerebrovascular disease. Before the crack epidemic, cocaine hydrochloride (HCl) was also implicated as a cause of stroke. However, less is known about the differences in stroke subtypes, age at stroke onset, or presence of und...

journal_title：Neurology

authors： Levine SR,Brust JC,Futrell N,Brass LM,Blake D,Fayad P,Schultz LR,Millikan CH,Ho KL,Welch KM

更新日期：1991-08-01 00:00:00

abstract：:We enrolled 116 patients in a multicenter, randomized, double-blind controlled trial of an 8-week course of 11 plasma exchange (PE) treatments in exacerbations of MS. The control group received sham PE, and both groups received identical treatment with IM ACTH and oral cyclophosphamide. Serum IgG decreased in the PE a...

journal_title：Neurology

authors： Weiner HL,Dau PC,Khatri BO,Petajan JH,Birnbaum G,McQuillen MP,Fosburg MT,Feldstein M,Orav EJ

更新日期：1989-09-01 00:00:00

abstract：:Three patients presented with unilateral progressive optic neuropathy. None of these patients had signs of symptoms referable to the chiasm or eye, thus confining their decline in vision to the optic nerve. Clinical and neuroradiographic evidence suggested a meningioma involving the optic nerve at the orbital-canalicu...

journal_title：Neurology

authors： Gudeman SK,Selhorst JB,Susac JO,Waybright EA

更新日期：1982-06-01 00:00:00

abstract：:Placebo, or sham surgery, as a control condition in surgical clinical trials in Parkinson disease (PD) remains controversial. The authors reviewed the adverse effects reported in double blind, placebo surgery controlled trials for PD. Placebo surgeries were generally safe and well tolerated but the number of subjects ...

journal_title：Neurology

authors： Frank S,Kieburtz K,Holloway R,Kim SY

更新日期：2005-10-11 00:00:00

abstract：BACKGROUND:Photophobia is an abnormal sensitivity to light experienced by migraineurs during attacks. The pathophysiology of photophobia is poorly understood. Nevertheless, 2 facts appear to have a link with photophobia: visual cortex hyperexcitability on the one hand and interactions between visual pathway and trigemi...

journal_title：Neurology

authors： Denuelle M,Boulloche N,Payoux P,Fabre N,Trotter Y,Géraud G

更新日期：2011-01-18 00:00:00

abstract：OBJECTIVE:Recent studies have suggested modifications of serotonin cerebral metabolism and of 5-HT(1A) receptors density in Alzheimer disease (AD). This study aims at exploring hippocampus 5-HT(1A) receptor density in patients at the amnesic mild cognitive impairment (aMCI) and mild AD dementia stages. METHODS:With us...

journal_title：Neurology

authors： Truchot L,Costes SN,Zimmer L,Laurent B,Le Bars D,Thomas-Antérion C,Croisile B,Mercier B,Hermier M,Vighetto A,Krolak-Salmon P

更新日期：2007-09-04 00:00:00

abstract：OBJECTIVE:To determine the prevalence and incidence of epilepsy among U.S. Medicare beneficiaries aged 65 years old and over, and to compare rates across demographic groups. METHODS:We performed a retrospective analysis of Medicare administrative claims for 2001-2005, defining prevalent cases as persons with ≥1 claim ...

journal_title：Neurology

authors： Faught E,Richman J,Martin R,Funkhouser E,Foushee R,Kratt P,Kim Y,Clements K,Cohen N,Adoboe D,Knowlton R,Pisu M

更新日期：2012-02-14 00:00:00

abstract：:Hippocampal sclerosis dementia (HSD) is a disease of unknown etiology and pathogenesis. To determine whether HSD cases could be reclassified as variants of frontotemporal dementia (FTD), a heterogeneous group of disorders, 18 brain autopsy cases previously diagnosed as HSD were re-evaluated. In 11 cases, ubiquitinated...

journal_title：Neurology

authors： Hatanpaa KJ,Blass DM,Pletnikova O,Crain BJ,Bigio EH,Hedreen JC,White CL 3rd,Troncoso JC

更新日期：2004-08-10 00:00:00

abstract：:Epilepsia partialis continua (EPC) may occur during nonketotic hyperglycemia but has not been described with diabetic ketoacidosis. The authors report a patient with EPC associated with ketotic hyperglycemia. Brain MRI showed two areas of abnormal signal intensity in the left precentral gyrus and in the right cerebell...

journal_title：Neurology

authors： Placidi F,Floris R,Bozzao A,Romigi A,Baviera ME,Tombini M,Izzi F,Sperli F,Marciani MG

更新日期：2001-08-14 00:00:00

abstract：:The authors report a case of hereditary multiple exostoses (HME) with neurologic complications, and review the literature. A 23-year-old man exhibited a worsening spastic paraparesis with sphincter dysfunction. The cranial nerves and the exteroceptive and deep sensations were apparently undamaged. The family history, ...

journal_title：Neurology

authors： Ferrari G,Taddei L,Vivenza C,Rossi G

更新日期：1979-07-01 00:00:00

abstract：:We studied the scalp distribution of auditory event-related potentials (P300), using simultaneously a cephalic (linked ears) and a noncephalic (balanced sternovertebra) reference. The recordings with noncephalic reference showed that infrequent, attended auditory stimuli evoke a negative bitemporal component (N300) as...

journal_title：Neurology

authors： Neshige R,Lüders H

更新日期：1988-11-01 00:00:00

abstract：:We describe a familial disorder consisting of sleep apnea, anosmia, colorblindness, partial complex seizures, and cognitive dysfunction. The phenotypic expression of the syndrome suggests an autosomal dominant inheritance with incomplete penetrance. ...

journal_title：Neurology

authors： Manon-Espaillat R,Gothe B,Adams N,Newman C,Ruff R

更新日期：1988-02-01 00:00:00

abstract：:A 78-year-old woman presented with a right basal ganglia infarct 6 weeks after a left herpes zoster ophthalmicus. MR angiography showed focal segmental stenosis of the proximal segments of the anterior, middle, and posterior cerebral arteries. Varicella DNA was detected in the CSF by polymerase chain reaction (PCR). T...

journal_title：Neurology

authors： Melanson M,Chalk C,Georgevich L,Fett K,Lapierre Y,Duong H,Richardson J,Marineau C,Rouleau GA

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVE:To determine whether serum Zic4 antibodies associate with paraneoplastic neurologic disorders (PND) and small-cell lung cancer (SCLC), and the association of these antibodies with other onconeuronal immunities associated with SCLC. DESIGN/METHODS:The authors studied 498 patients (215 with PND and 283 without...

journal_title：Neurology

authors： Bataller L,Wade DF,Graus F,Stacey HD,Rosenfeld MR,Dalmau J

更新日期：2004-03-09 00:00:00

abstract：:We describe a 78-year-old man with right hemiballism as the presenting symptom of a metastatic occult adenocarcinoma of the lung. CT demonstrated two contrast-enhancing lesions: one in the left subthalamic region and the other in the left parietal region. Metastatic tumor was confirmed at autopsy. ...

journal_title：Neurology

authors： Glass JP,Jankovic J,Borit A

更新日期：1984-02-01 00:00:00

abstract：OBJECTIVE:To determine black-white differences in 1-year recurrent stroke and 30-day case fatality after a recurrent stroke in older US adults. METHODS:We conducted a retrospective cohort study using a 5% random sample of Medicare beneficiaries with fee-for-service health insurance coverage who were hospitalized for i...

journal_title：Neurology

authors： Albright KC,Huang L,Blackburn J,Howard G,Mullen M,Bittner V,Muntner P,Howard V

更新日期：2018-11-06 00:00:00

abstract：OBJECTIVE:To investigate the effect of optimal combination of evidence-based drug therapies including antihypertensive agents, lipid modifiers, and antithrombotic agents on risk of recurrent vascular events after stroke. METHODS:We analyzed the database of a multicenter trial involving 3,680 recent noncardioembolic st...

journal_title：Neurology

authors： Park JH,Ovbiagele B

更新日期：2015-01-06 00:00:00

abstract：OBJECTIVE:To characterize the prevalence and prognostic significance of major driver molecular alterations in adult midline diffuse gliomas (MLG). METHODS:Adults with histologically proven MLG diagnosed between 1996 and 2017 were identified from our tumor bank, systematically reviewed, and reclassified according to WH...

journal_title：Neurology

authors： Picca A,Berzero G,Bielle F,Touat M,Savatovsky J,Polivka M,Trisolini E,Meunier S,Schmitt Y,Idbaih A,Hoang-Xuan K,Delattre JY,Mokhtari K,Di Stefano AL,Sanson M

更新日期：2018-06-05 00:00:00

abstract：BACKGROUND:Ependymoma is a rare type of glioma, representing 5% of all CNS malignancies. Radiotherapy (RT) is commonly administered, but there is no standard chemotherapy. At recurrence, ependymoma is notoriously refractory to therapy and the prognosis is poor. In recurrent glioblastoma, encouraging responses with beva...

journal_title：Neurology

authors： Green RM,Cloughesy TF,Stupp R,DeAngelis LM,Woyshner EA,Ney DE,Lassman AB

更新日期：2009-11-17 00:00:00

abstract：:Described are the clinical, EEG, MR, and genetic characteristics of 106 members of a family with autosomal dominant temporal lobe epilepsy (TLE) and febrile seizures (FS), with 22 affected individuals. Eleven patients had a history of FS, and 10 patients had TLE. EEG showed epileptic activity in five. None had hippoca...

journal_title：Neurology

authors： Depondt C,Van Paesschen W,Matthijs G,Legius E,Martens K,Demaerel P,Wilms G

更新日期：2002-05-14 00:00:00

abstract：:The authors have developed an MG activities of daily living (ADL) profile (MG-ADL)-a simple eight-question survey of MG symptoms. In 254 consecutive encounters with established MG patients, the authors compared scores from the MG-ADL to the quantitative MG score (QMG)-a standardized, reliable scale used in clinical tr...

journal_title：Neurology

authors： Wolfe GI,Herbelin L,Nations SP,Foster B,Bryan WW,Barohn RJ

更新日期：1999-04-22 00:00:00

abstract：:A 11-year-old boy of short stature had recurrent right temporal pounding headaches of 7 months' duration, and progressive visual loss for 3 days. There was a left hemianopia, alexia without agraphia, and diffuse muscle weakness. Investigation established the presence of a mitochondrial myopathy with pyruvate and lacti...

journal_title：Neurology

authors： Skoglund RR

更新日期：1979-05-01 00:00:00

abstract：OBJECTIVE:To study the clinical and radiologic spectrum and genotype-phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. METHODS:We performed a multinational cross-sectional observational study of the clinical, radiologic, and...

journal_title：Neurology

authors： Wolf NI,Vanderver A,van Spaendonk RM,Schiffmann R,Brais B,Bugiani M,Sistermans E,Catsman-Berrevoets C,Kros JM,Pinto PS,Pohl D,Tirupathi S,Strømme P,de Grauw T,Fribourg S,Demos M,Pizzino A,Naidu S,Guerrero K,van der

更新日期：2014-11-18 00:00:00

abstract：OBJECTIVE:Kennedy disease (KD), or spinobulbomuscular atrophy, is a slowly progressive inherited neurodegenerative disorder, marked by prominent fasciculations that typically precede the development of other symptoms. Although the genetic basis of KD relates to triplet (CAG) repeat expansion in the androgen receptor (A...

journal_title：Neurology

authors： Vucic S,Kiernan MC

更新日期：2007-11-06 00:00:00

abstract：BACKGROUND:There is controversy over whether seizures, the most common manifestation of neonatal brain injury, may themselves damage the developing brain. OBJECTIVE:To determine if neonatal seizures are independently associated with brain injury in newborns with perinatal asphyxia. METHODS:Ninety term neonates were s...

journal_title：Neurology

authors： Miller SP,Weiss J,Barnwell A,Ferriero DM,Latal-Hajnal B,Ferrer-Rogers A,Newton N,Partridge JC,Glidden DV,Vigneron DB,Barkovich AJ

更新日期：2002-02-26 00:00:00

abstract：:We studied 60 patients with idiopathic Parkinson disease with motor and neuropsychologic tests to ascertain whether the severity of motor symptoms was associated with the degree of neuropsychologic deficity. Significant correlations were found between the severity of brady kinesia and impaired performance on tests ass...

journal_title：Neurology

authors： Mortimer JA,Pirozzolo FJ,Hansch EC,Webster DD

更新日期：1982-02-01 00:00:00

abstract：:Gulf War illness (GWI), which afflicts at least 25% of veterans who served in the 1990-1991 war in the Persian Gulf, is thought to be caused by deployment exposures to various neurotoxicants, including pesticides, anti-nerve gas pills, and low-level nerve agents including sarin/cyclosarin. GWI is a multisymptom disord...

journal_title：Neurology

authors： Qiang L,Rao AN,Mostoslavsky G,James MF,Comfort N,Sullivan K,Baas PW

更新日期：2017-05-16 00:00:00

abstract：:Three children with cerebral oligodendrogliomas causing partial complex or generalized seizures presented with completely normal neurologic examinations. CT showed low-density, nonenhancing surface lesions. Although these CT features are usually associated with infarcts or cysts, neoplasm was suspected because of irre...

journal_title：Neurology

authors： Varma RR,Crumrine PK,Bergman I,Latchaw RE,Price RA,Vries J,Painter MJ

更新日期：1983-06-01 00:00:00

abstract：:Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and no...

journal_title：Neurology

authors： Kasman M,Bernstein L,Schulman S

更新日期：1976-06-01 00:00:00

abstract：:We developed a method for the detection of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) carriers. The method is based on the quantitative analysis of the products of standard multiplex polymerase chain reaction (PCR) from 18 different exons of the dystrophin gene, and is designated "QM-PCR." W...

journal_title：Neurology

authors： Ioannou P,Christopoulos G,Panayides K,Kleanthous M,Middleton L

更新日期：1992-09-01 00:00:00