Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

abstract：:Neurologic disorders are among the most frequent causes of morbidity and mortality in the United States. Moreover, the current shortfall of neurologists is expected to worsen over the coming decade. As a consequence, many patients with neurologic disorders will be treated by physicians and primary care providers witho...

journal_title：Neurology

authors： Sandrone S,Berthaud JV,Chuquilin M,Cios J,Ghosh P,Gottlieb-Smith RJ,Kushlaf H,Mantri S,Masangkay N,Menkes DL,Nevel KS,Sarva H,Schneider LD

更新日期：2019-01-22 00:00:00

abstract：BACKGROUND AND OBJECTIVE:Collagen abnormalities of skin have been reported among patients with ALS. However, little is known concerning glycosaminoglycans of the skin in ALS. Our objective was to clarify morphologic and biochemical findings of skin glycosaminoglycans among patients with ALS. METHODS:We performed morph...

journal_title：Neurology

authors： Ono S,Imai T,Aso A,Yamano T,Shimizu N,Nagao K

更新日期：1998-08-01 00:00:00

abstract：OBJECTIVE:To examine the association between cognitive function and dementia with vitamin D concentration in adults. METHODS:Five databases were searched for English-language studies up to August 2010, and included all study designs with a comparative group. Cognitive function or impairment was defined by tests of glo...

journal_title：Neurology

authors： Balion C,Griffith LE,Strifler L,Henderson M,Patterson C,Heckman G,Llewellyn DJ,Raina P

更新日期：2012-09-25 00:00:00

abstract：:Four patients with disabling action tremor in the setting of MS were treated with isoniazid (800 to 1200 mg per day). All patients showed significant improvement of the tremor, allowing more functional use of their extremities. To the best of our knowledge, this is the only medical treatment for this type of tremor. ...

journal_title：Neurology

authors： Sabra AF,Hallett M,Sudarsky L,Mullally W

更新日期：1982-08-01 00:00:00

abstract：OBJECTIVE:To discuss the indications and timing for resective surgery in patients with Sturge-Weber syndrome (SWS) and medication-resistant epilepsy. BACKGROUND:SWS that causes epilepsy severe enough to merit surgery is rare. Because of the variable natural history of the disease, it is difficult to establish clear-cu...

journal_title：Neurology

authors： Arzimanoglou AA,Andermann F,Aicardi J,Sainte-Rose C,Beaulieu MA,Villemure JG,Olivier A,Rasmussen T

更新日期：2000-11-28 00:00:00

abstract：OBJECTIVE:To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. METHODS:Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. ...

journal_title：Neurology

authors： Cabrera-Serrano M,Mavillard F,Biancalana V,Rivas E,Morar B,Hernández-Laín A,Olive M,Muelas N,Khan E,Carvajal A,Quiroga P,Diaz-Manera J,Davis M,Ávila R,Domínguez C,Romero NB,Vílchez JJ,Comas D,Laing NG,Laporte J,Ka

更新日期：2018-07-24 00:00:00

abstract：OBJECTIVE:To compare the efficacy and safety of oral anticoagulants vs antiplatelets in patients with stroke and atherosclerotic plaques in the aortic arch or cervical or intracranial arteries, collectively described as supracardiac atherosclerosis. METHODS:We searched PubMed and Scopus until August 28, 2019, for rand...

journal_title：Neurology

authors： Sagris D,Georgiopoulos G,Leventis I,Pateras K,Pearce LA,Korompoki E,Makaritsis K,Vemmos K,Milionis H,Ntaios G

更新日期：2020-08-04 00:00:00

abstract：BACKGROUND:No data exist on whether the syndrome of amnestic mild cognitive impairment occurs in the oldest old, or if the relationships for functional status and neuropsychometric performance based on clinical diagnosis hold true in this age group. DESIGN/METHODS:The authors performed comprehensive neurologic evaluat...

journal_title：Neurology

authors： Boeve B,McCormick J,Smith G,Ferman T,Rummans T,Carpenter T,Ivnik R,Kokmen E,Tangalos E,Edland S,Knopman D,Petersen R

更新日期：2003-02-11 00:00:00

abstract：BACKGROUND:Idiopathic adult-onset primary dystonia usually affects the upper body and remains focal. Underlying mechanisms are unknown, and there are only limited neuropathologic studies in the literature. Recently, ubiquitinated perinuclear inclusion bodies were found in the brainstem of patients with DYT1-related dys...

journal_title：Neurology

authors： Holton JL,Schneider SA,Ganesharajah T,Gandhi S,Strand C,Shashidharan P,Barreto J,Wood NW,Lees AJ,Bhatia KP,Revesz T

更新日期：2008-02-26 00:00:00

abstract：:We examined measures of lead dose that reflect intensity of exposure and cumulative exposure for differential association with neuropsychological functional domains and with neuropsychological performance by age. Eighty active lead smelter workers assessed for verbal memory and visuomotoric skills had a mean (range) a...

journal_title：Neurology

authors： Bleecker ML,Lindgren KN,Ford DP

更新日期：1997-03-01 00:00:00

abstract：BACKGROUND:Studies have suggested that mood status is associated with an increased risk of stroke, though mostly based on measures of depression defined by symptoms alone rather than diagnostic criteria representative of clinically important distress and impairment. We investigated this association based upon a large p...

journal_title：Neurology

authors： Surtees PG,Wainwright NW,Luben RN,Wareham NJ,Bingham SA,Khaw KT

更新日期：2008-03-04 00:00:00

abstract：:A 3-year 8-month-old girl died after 14 months of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. In the last 4 months of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and alpha-ketoglutarat...

journal_title：Neurology

authors： DiDonato S,Rimoldi M,Moise A,Bertagnoglio B,Uziel G

更新日期：1979-12-01 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：BACKGROUND:Quantitative head impulse test (HIT) measures the gain of the angular vestibulo-ocular reflex (VOR) during head rotation as the ratio of eye to head acceleration. Bedside HIT identifies subsequent catch-up saccades after the head rotation as indirect signs of VOR deficit. OBJECTIVE:To determine the VOR defi...

journal_title：Neurology

authors： Weber KP,Aw ST,Todd MJ,McGarvie LA,Curthoys IS,Halmagyi GM

更新日期：2008-02-05 00:00:00

abstract：OBJECTIVE:To investigate the feasibility and clinical utility of using passive electrocorticography (ECoG) for online spatial-temporal functional mapping (STFM) of language cortex in patients being monitored for epilepsy surgery. METHODS:We developed and tested an online system that exploits ECoG's temporal resolution...

journal_title：Neurology

authors： Wang Y,Fifer MS,Flinker A,Korzeniewska A,Cervenka MC,Anderson WS,Boatman-Reich DF,Crone NE

更新日期：2016-03-29 00:00:00

abstract：:Subsequent to publication of the NINDS t-PA Stroke Study results, we sought to determine the proportion of patients eligible for and receiving intravenous tissue plasminogen activator (t-PA) at an active acute stroke treatment center. Over a 12-month period there were 185 stroke code activations. Of these, 134 involve...

journal_title：Neurology

authors： Zweifler RM,Brody ML,Graves GC,U TT,Drinkard R,Cunningham S,Rothrock JF

更新日期：1998-02-01 00:00:00

abstract：:The childhood type fo dermatomyositis, which occurs in children and young adults, shows a specific constellation of pathologic changes in muscle. Capillary necrosis leads to capillary loss, generally starting on the periphery of muscle fascicles. Electron microscopy discloses undulating tubules in endothelial cells, l...

journal_title：Neurology

authors： Carpenter S,Karpati G,Rothman S,Watters G

更新日期：1976-10-01 00:00:00

abstract：OBJECTIVE:To investigate whether plasma interleukin-6 (IL-6) is cross-sectionally related to poorer cognitive function and whether a baseline plasma IL-6 measurement can predict risk for decline in cognitive function in longitudinal follow-up of a population-based sample of nondisabled elderly people. METHODS:A prospe...

journal_title：Neurology

authors： Weaver JD,Huang MH,Albert M,Harris T,Rowe JW,Seeman TE

更新日期：2002-08-13 00:00:00

abstract：:We tested the effect of bovine cortex phosphatidylserine (BC-PS), a membrane phospholipid known to inhibit the release of the cytokine tumor necrosis factor (TNF), in SJL/J mice sensitized for adoptively transferred experimental autoimmune encephalomyelitis (EAE). Control, sensitized mice developed severe clinical and...

journal_title：Neurology

authors： Monastra G,Cross AH,Bruni A,Raine CS

更新日期：1993-01-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to evaluate the association between spinal cord injury (SCI) and type 2 diabetes in a large representative sample and to determine whether an association exists irrespective of known risk factors for type 2 diabetes. METHODS:Data were obtained on 60,678 respondents to the Stat...

journal_title：Neurology

authors： Cragg JJ,Noonan VK,Dvorak M,Krassioukov A,Mancini GB,Borisoff JF

更新日期：2013-11-19 00:00:00

abstract：:A 30-year-old woman was thought to have Friedreich's disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total ...

journal_title：Neurology

authors： Stumpf DA,Sokol R,Bettis D,Neville H,Ringel S,Angelini C,Bell R

更新日期：1987-01-01 00:00:00

abstract：OBJECTIVE:To determine the prevalence of developmental venous anomaly in adult patients with diffuse glioma. METHODS:We performed a retrospective cohort study (2010-2016) of consecutive adult patients harboring a supratentorial diffuse glioma in 2 centers: Sainte-Anne Hospital (experimental and control sets) and Pitié...

journal_title：Neurology

authors： Roux A,Edjlali M,Porelli S,Tauziede-Espariat A,Zanello M,Dezamis E,Zah-Bi G,Sanson M,Puget S,Capelle L,Varlet P,Oppenheim C,Pallud J

更新日期：2019-01-01 00:00:00

abstract：:We identified seven patients with refractory partial epilepsy and sleep apnea. Treatment of the sleep apnea with nasal continuous positive airway pressure (CPAP), protriptyline, trazodone, acetazolamide, or tracheostomy reduced seizure frequency and severity in six patients. Success with CPAP depended largely on compl...

journal_title：Neurology

authors： Devinsky O,Ehrenberg B,Barthlen GM,Abramson HS,Luciano D

更新日期：1994-11-01 00:00:00

abstract：OBJECTIVE:To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S). BACKGROUND:Hypokalemic periodic paralysis is primarily caused by mutations within CACNA1S. Genetic heterogeneity...

journal_title：Neurology

authors： Bulman DE,Scoggan KA,van Oene MD,Nicolle MW,Hahn AF,Tollar LL,Ebers GC

更新日期：1999-12-10 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：:Central nervous system involvement in melioidosis is unusual. We describe a 34-year-old man who developed a Pseudomonas pseudomallei meningitis, manifested as bilateral third-nerve palsies, 13 years after having been in southeast Asia. Diagnosis was established by a fourfold rise in the serum antibody titer for the ba...

journal_title：Neurology

authors： Beck RW,Janssen RS,Smiley ML,Schatz NJ,Savino PJ,Rubin DH

更新日期：1984-01-01 00:00:00

abstract：:Although a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy,...

journal_title：Neurology

authors： Tomasi LG

更新日期：1979-08-01 00:00:00

abstract：:Among 22 patients with human T-lymphotropic virus type I (HTLV-I)-associated chronic progressive myelopathy, agarose isoelectric focusing (AIF) revealed oligoclonal IgG bands in 21: in 3 in CSF only; in 11 in CSF and to some extent in serum; and in 7, identical patterns in CSF and serum. By immunoblot after AIF of CSF...

journal_title：Neurology

authors： Link H,Cruz M,Gessain A,Gout O,de Thé G,Kam-Hansen S

更新日期：1989-12-01 00:00:00

abstract：OBJECTIVE:To assess the effects of levodopa on resting-state brain metabolism in PD. BACKGROUND:In previous studies the authors used [18F] fluorodeoxyglucose (FDG) and PET to quantify regional metabolic abnormalities in PD. They found that this disease is characterized reproducibly by a specific abnormal PD-related pa...

journal_title：Neurology

authors： Feigin A,Fukuda M,Dhawan V,Przedborski S,Jackson-Lewis V,Mentis MJ,Moeller JR,Eidelberg D

更新日期：2001-12-11 00:00:00

abstract：OBJECTIVES:To provide information on the effect of the coronavirus disease of 2019 (COVID-19) pandemic on people with epilepsy and provide consensus recommendations on how to provide the best possible care for people with epilepsy while avoiding visits to urgent care facilities and hospitalizations during the novel cor...

journal_title：Neurology

authors： French JA,Brodie MJ,Caraballo R,Devinsky O,Ding D,Jehi L,Jette N,Kanner A,Modi AC,Newton CR,Patel AA,Pennell PB,Perucca E,Sander JW,Scheffer IE,Singh G,Williams E,Wilmshurst J,Cross JH

更新日期：2020-06-09 00:00:00