Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)

abstract：OBJECTIVE:To evaluate the impact of early blood pressure (BP) changes on diffusion-weighted imaging (DWI) lesion evolution and clinical outcome in patients with stroke treated with IV tissue plasminogen activator (tPA). METHODS:We prospectively evaluated 80 patients with stroke with a documented middle cerebral artery...

journal_title：Neurology

authors： Delgado-Mederos R,Ribo M,Rovira A,Rubiera M,Munuera J,Santamarina E,Delgado P,Maisterra O,Alvarez-Sabin J,Molina CA

更新日期：2008-08-19 00:00:00

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：OBJECTIVE:To develop a simple imaging rule to predict neurodevelopmental outcomes at 4.5 years in a cohort of preterm neonates with white matter injury (WMI) based on lesion location and examine whether clinical variables enhance prediction. METHODS:Sixty-eight preterm neonates born 24-32 weeks' gestation (median 27.7...

journal_title：Neurology

authors： Cayam-Rand D,Guo T,Grunau RE,Benavente-Fernández I,Synnes A,Chau V,Branson H,Latal B,McQuillen P,Miller SP

更新日期：2019-09-24 00:00:00

abstract：:We studied the efficacy of divalproex sodium in patients with complex partial seizures taking concomitant carbamazepine or phenytoin as monotherapy. Patients were selected because of inadequate seizure control by current therapy. The primary efficacy measure was median reduction of seizure frequency during add-on trea...

journal_title：Neurology

authors： Willmore LJ,Shu V,Wallin B

更新日期：1996-01-01 00:00:00

abstract：:Restless legs syndrome (RLS) involves abnormal limb sensations that diminish with motor activity, worsen at rest, have a circadian peak in expression in the evening and at night, and can severely disrupt sleep. Primary treatment is directed at CNS dopaminergic systems, particularly activation of D(2)-like (D(2), D(3),...

journal_title：Neurology

authors： Clemens S,Rye D,Hochman S

更新日期：2006-07-11 00:00:00

abstract：OBJECTIVE:To compare access to caregiving between men and women with Parkinson disease (PD). METHODS:This was a cross-sectional and longitudinal study among participants with PD enrolled in the National Parkinson Foundation Parkinson's Outcomes Project from 2009 to 2014 at 21 international sites. The primary outcome m...

journal_title：Neurology

authors： Dahodwala N,Shah K,He Y,Wu SS,Schmidt P,Cubillos F,Willis AW

更新日期：2018-01-02 00:00:00

abstract：OBJECTIVES:To learn caregivers' preferences for the treatment of AD with a disease-slowing therapy, and to identify relationships between these preferences and the characteristics of caregivers and patients. METHODS:A structured interview with 40 caregivers of patients with AD. Preferences were measured for an AD-slow...

journal_title：Neurology

authors： Karlawish JH,Klocinski JL,Merz J,Clark CM,Asch DA

更新日期：2000-10-10 00:00:00

abstract：OBJECTIVE:To evaluate the effects of mitoxantrone (Mx) in progressive multiple sclerosis (MS) on MRI. METHODS:A total of 194 patients with worsening relapsing-remitting or secondary progressive MS were treated with Mx 12 mg/m2 (n = 34), Mx 5 mg/m2 (n = 40), or placebo (n = 36) at 3-month intervals IV over a 2-year per...

journal_title：Neurology

authors： Krapf H,Morrissey SP,Zenker O,Zwingers T,Gonsette R,Hartung HP,MIMS Study Group.

更新日期：2005-09-13 00:00:00

abstract：:A patient with glioblastoma of the rostral brainstem and hypothalamus exhibited bilateral internuclear ophthalmoplegia and vertical nystagmus; he suffered episodes of cataplexy, narcolepsy, and sleep paralysis. A peculiar fluctuation of posture and tone ("limp man syndrome") proved to be a manifestation of continuous ...

journal_title：Neurology

authors： Stahl SM,Layzer RB,Aminoff MJ,Townsend JJ,Feldon S

更新日期：1980-10-01 00:00:00

abstract：OBJECTIVE:To report the development of CNS vasculitis in a patient with multiple sclerosis (MS) treated with daclizumab. METHODS:This report includes clinical, MRI, immunologic, and pathology data and CSF analysis. RESULTS:After completing a phase II daclizumab monotherapy study with an optimal response as evidenced ...

journal_title：Neurology

authors： Ohayon J,Oh U,Richert N,Martin J,Vortmeyer A,McFarland H,Bielekova B

更新日期：2013-01-29 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：:Kuru plaques are the pathologic hallmark in Gerstmann-Sträussler syndrome (GSS). To demonstrate that prion protein (PrP) is a component of kuru plaque cores, we fractionated and sequenced kuru plaque core derived peptides, following digestion with Achromobacter lyticus protease I. We identified 3 PrP-derived peptides ...

journal_title：Neurology

authors： Kitamoto T,Yamaguchi K,Doh-ura K,Tateishi J

更新日期：1991-02-01 00:00:00

abstract：OBJECTIVE:To evaluate the relationship of white matter hyperintensities (WMH) with decline in lower extremity function (LEF) over approximately 3 years in dementia-free older adults with memory complaints. METHODS:We obtained brain MRI data from 458 community-dwelling adults, aged 70 years or over, at baseline, and fr...

journal_title：Neurology

authors： Moon SY,de Souto Barreto P,Rolland Y,Chupin M,Bouyahia A,Fillon L,Mangin JF,Andrieu S,Cesari M,Vellas B,MAPT\/DSA Study Group.

更新日期：2018-04-10 00:00:00

abstract：OBJECTIVE:To explore the inflammatory processes in the pathogenesis of psychiatric symptoms and the prognostic value of psychiatric comorbidities in multiple sclerosis (MS). METHODS:Four hundred five patients with relapsing-remitting (RR) MS underwent psychiatric evaluation by means of Beck Depression Inventory II (BD...

journal_title：Neurology

authors： Rossi S,Studer V,Motta C,Polidoro S,Perugini J,Macchiarulo G,Giovannetti AM,Pareja-Gutierrez L,Calò A,Colonna I,Furlan R,Martino G,Centonze D

更新日期：2017-09-26 00:00:00

abstract：:Since the first development of diagnostic criteria for multiple sclerosis (MS), there have been regular revisions of disease definitions and diagnostic thresholds aimed at improving specificity while maintaining sensitivity. The central requirements for diagnosis of MS are dissemination in space (DIS) and disseminatio...

journal_title：Neurology

authors： Selchen D,Bhan V,Blevins G,Devonshire V,Duquette P,Grand'Maison F,Kremenchutzky M,Lapierre Y,Li D,von Riedemann SJ,Freedman M

更新日期：2012-12-04 00:00:00

abstract：:The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of classic ARD. Hence, w...

journal_title：Neurology

authors： Horn MA,van den Brink DM,Wanders RJ,Duran M,Poll-The BT,Tallaksen CM,Stokke OH,Moser H,Skjeldal OH

更新日期：2007-02-27 00:00:00

abstract：OBJECTIVE:Learning and memory impairments are prevalent among persons with multiple sclerosis (MS); however, such deficits are only weakly associated with MS disease severity (brain atrophy). The cognitive reserve hypothesis states that greater lifetime intellectual enrichment lessens the negative impact of brain disea...

journal_title：Neurology

authors： Sumowski JF,Wylie GR,Chiaravalloti N,DeLuca J

更新日期：2010-06-15 00:00:00

abstract：OBJECTIVE:To determine whether brain function is altered in cognitively normal individuals at high risk for AD several years before the typical age at onset for this illness. BACKGROUND:Neuropathologic alterations in AD precede cognitive impairment by several years. It is unknown whether functional alterations in neur...

journal_title：Neurology

authors： Smith CD,Andersen AH,Kryscio RJ,Schmitt FA,Kindy MS,Blonder LX,Avison MJ

更新日期：1999-10-22 00:00:00

abstract：:Pathologic studies of women with fatal cerebrovascular disease who have received oral contraceptives are infrequently found in the literature. Three cases of this type are reported here. The pathologic findings included an intrinsic vascular lesion in the form of intimal hyperplasia with and without associated thrombo...

journal_title：Neurology

authors： Irey NS,McAllister HA,Henry JM

更新日期：1978-12-01 00:00:00

abstract：OBJECTIVE:To determine the surgical outcome and factors of predictive value in patients undergoing reoperation for intractable partial epilepsy. METHODS:The authors retrospectively studied the operative outcome in 64 consecutive patients who underwent reoperation for intractable partial epilepsy. Demographic data, res...

journal_title：Neurology

authors： Siegel AM,Cascino GD,Meyer FB,McClelland RL,So EL,Marsh WR,Scheithauer BW,Sharbrough FW

更新日期：2004-12-28 00:00:00

abstract：BACKGROUND:Previously, hyperoxia and blood volume increase were reported in the red nucleus and substantia nigra during spontaneous migraine with aura. OBJECTIVE:To further understand the pathophysiologic role of these centers, activation of brainstem structures was investigated in patients with visually triggered mig...

journal_title：Neurology

authors： Cao Y,Aurora SK,Nagesh V,Patel SC,Welch KM

更新日期：2002-07-09 00:00:00

abstract：:In 17 patients with cough syncope, electroencephalograms showed normal interictal recordings in 12 patients, minimally abnormal recordings in 4, and a moderately abnormal recording in 1. Fourteen episodes of cough syncope (six patients) were recorded, with the EEGs showing diffuse theta and delta slowing during the ep...

journal_title：Neurology

authors： DeMaria AA Jr,Westmoreland BF,Sharbrough FW

更新日期：1984-03-01 00:00:00

abstract：:In children, seizures associated with status epilepticus (SE) include a number of types that are age-related. These types of seizures are not associated with SE in older patients. Likewise, etiologies of SE in children are also unique to this patient population, in particular those responsible for SE in the neonate. C...

journal_title：Neurology

authors： Lockman LA

更新日期：1990-05-01 00:00:00

abstract：:We retrospectively evaluated the neurologic complications in 425 patients who underwent bone marrow transplant (BMT) (310 allogeneic, 115 autologous) for leukemia. Forty-six patients (11%) developed 47 central and three peripheral neurologic complications. The most common complications were cerebral hemorrhage (3.8%),...

journal_title：Neurology

authors： Graus F,Saiz A,Sierra J,Arbaiza D,Rovira M,Carreras E,Tolosa E,Rozman C

更新日期：1996-04-01 00:00:00

abstract：BACKGROUND:Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases. OBJECTIVES:The aim of the study was to establish the prevalence of mutations in t...

journal_title：Neurology

authors： Mercuri E,Messina S,Bruno C,Mora M,Pegoraro E,Comi GP,D'Amico A,Aiello C,Biancheri R,Berardinelli A,Boffi P,Cassandrini D,Laverda A,Moggio M,Morandi L,Moroni I,Pane M,Pezzani R,Pichiecchio A,Pini A,Minetti C,Mon

更新日期：2009-05-26 00:00:00

abstract：OBJECTIVE:To generate a national multiple sclerosis (MS) prevalence estimate for the United States by applying a validated algorithm to multiple administrative health claims (AHC) datasets. METHODS:A validated algorithm was applied to private, military, and public AHC datasets to identify adult cases of MS between 200...

journal_title：Neurology

authors： Wallin MT,Culpepper WJ,Campbell JD,Nelson LM,Langer-Gould A,Marrie RA,Cutter GR,Kaye WE,Wagner L,Tremlett H,Buka SL,Dilokthornsakul P,Topol B,Chen LH,LaRocca NG,US Multiple Sclerosis Prevalence Workgroup.

更新日期：2019-03-05 00:00:00

abstract：:In monkey extraocular muscles (EOM), a battery of histochemical reactions delineates three muscle fiber types, coarse, fine, and granular. Normal EOM are compared with EOM denervated by intracranial oculomotor nerve section. The experimentally denervated EOM fibers did not show the constellation of histologic response...

journal_title：Neurology

authors： Ringel SP,Engel WK,Bender AN,Peters ND,Yee RD

更新日期：1978-01-01 00:00:00

abstract：OBJECTIVE:The 36-item Short Form Health Survey Questionnaire (SF-36) is a widely used generic health status measure. Recently it has been adapted to produce a disease-specific measure for MS-the 54-item Multiple Sclerosis Quality of Life Scale (MSQOL-54)-composed of five unchanged SF-36 scales; three altered SF-36 scal...

journal_title：Neurology

authors： Freeman JA,Hobart JC,Thompson AJ

更新日期：2001-07-10 00:00:00

abstract：:We present an 11-year-old girl in whom high field strength MRI performed 2 1/2 years and 6 months before her death showed prominent hypointensity in the globus pallidus and substantia nigra consistent with iron deposition. This finding suggested Hallervorden-Spatz disease, which was confirmed at autopsy. ...

journal_title：Neurology

authors： Schaffert DA,Johnsen SD,Johnson PC,Drayer BP

更新日期：1989-03-01 00:00:00

abstract：OBJECTIVE:To examine the effects of natalizumab on low-contrast letter acuity as a prespecified tertiary endpoint in two randomized clinical trials and to evaluate the usefulness of low-contrast letter acuity testing as a candidate test of visual function in multiple sclerosis (MS). METHODS:AFFIRM and SENTINEL were ra...

journal_title：Neurology

authors： Balcer LJ,Galetta SL,Calabresi PA,Confavreux C,Giovannoni G,Havrdova E,Hutchinson M,Kappos L,Lublin FD,Miller DH,O'Connor PW,Phillips JT,Polman CH,Radue EW,Rudick RA,Stuart WH,Wajgt A,Weinstock-Guttman B,Wynn DR,Lyn

更新日期：2007-04-17 00:00:00