Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

abstract：:Using a perceptual technique it is shown that patients with chronic external ophthalmoplegia have shortened vestibular responses. It is postulated that this is secondary to the retinal image slip experienced by these patients during head movements and a useful compensatory mechanism to suppress motion-induced sickness...

journal_title：Neurology

authors： Grunfeld EA,Shallo-Hoffmann JA,Cassidy L,Okada T,Faldon M,Acheson JF,Bronstein AM

更新日期：2003-06-24 00:00:00

abstract：BACKGROUND:Cerebral microbleeds are known to be indicative of bleeding-prone microangiopathy and may predict incident intracerebral hemorrhage (ICH). In this study, we investigated whether microbleeds are associated with the incidence of warfarin-related ICH. METHODS:Twenty-four patients with ICH while on outpatient t...

journal_title：Neurology

authors： Lee SH,Ryu WS,Roh JK

更新日期：2009-01-13 00:00:00

abstract：:We studied the effect of a single oral intake of 30 to 40 grams of alcohol in 4 consecutive patients presenting with Ramsay Hunt syndrome, the most common type of degenerative progressive myoclonic epilepsy (PME) encountered in southern Europe. Clinical and polygraphic monitoring demonstrated abatement of myoclonus in...

journal_title：Neurology

authors： Genton P,Guerrini R

更新日期：1990-09-01 00:00:00

abstract：:This study concerns the expression of Met-enkephalin (MEnk) in the striatum and the external segment of the globus pallidus proper (GPe) in normal controls, idiopathic Parkinson's disease (PD), and striatonigral degeneration (SND). For this purpose, we developed a sensitive immunoperoxidase technique to visualize MEnk...

journal_title：Neurology

authors： Goto S,Hirano A,Matsumoto S

更新日期：1990-07-01 00:00:00

abstract：:Hippocampal formation atrophy (HFA) developed in an adult, who did not have epilepsy previously, after the occurrence of new-onset partial seizures from acute thrombosis of an ipsilateral parietal venous angioma. There was no evidence of hippocampal injury, and the patient had only one brief, generalized tonic-clonic ...

journal_title：Neurology

authors： Worrell GA,Sencakova D,Jack CR,Flemming KD,Fulgham JR,So EL

更新日期：2002-05-28 00:00:00

abstract：:The authors sought to determine in a retrospective analysis whether carotid plaque soft TD on CT is associated with recent ischemic neurologic events. Among 141 patients (99 asymptomatic), 106 plaques with more than 50% stenosis were selected for density measurements. They found an odds ratio for neurologic events ass...

journal_title：Neurology

authors： Serfaty JM,Nonent M,Nighoghossian N,Rouhart F,Derex L,Rotaru C,Chirossel P,Thabut G,Guias B,Heautot JF,Gouny P,de la Vega A,Pachai C,Ecochard R,Villard J,Douek PC,CARMEDAS Study Group.

更新日期：2006-01-10 00:00:00

abstract：OBJECTIVE:To study the safety of off-label IV thrombolysis in patients with very severe stroke (NIH Stroke Scale [NIHSS] scores >25) compared with severe stroke (NIHSS scores 15-25), where treatment is within European regulations. METHODS:Data were analyzed from 57,247 patients with acute ischemic stroke receiving IV ...

journal_title：Neurology

authors： Mazya MV,Lees KR,Collas D,Rand VM,Mikulik R,Toni D,Wahlgren N,Ahmed N

更新日期：2015-12-15 00:00:00

abstract：OBJECTIVE:To ascertain the prevalence and determinants of neuropathy in patients with Parkinson disease (PD), in particular, the roles of vitamin B12 and levodopa exposure. METHODS:We performed a cross-sectional study of 37 patients with PD and 37 age- and gender-matched controls, using a sensitive and validated neuro...

journal_title：Neurology

authors： Rajabally YA,Martey J

更新日期：2011-11-29 00:00:00

abstract：BACKGROUND:Neutralizing antibodies (NAB) to interferon beta (IFNbeta) occur in about one-third of MS patients treated with IFNbeta-1b and there is an association with a loss of clinical and MRI efficacy. However, there are no data regarding the bioavailability of IFNbeta-1b in patients with and without NAB. METHODS:Th...

journal_title：Neurology

authors： Deisenhammer F,Reindl M,Harvey J,Gasse T,Dilitz E,Berger T

更新日期：1999-04-12 00:00:00

abstract：:Dysfunction of NADH: ubiquinone oxidoreductase (complex I) of the mitochondrial electron transport chain has been linked to the pathogenesis of Parkinson's disease. While simple assays of complex I activity are unlikely to be useful in the preclinical detection of Parkinson's disease, other more sophisticated physical...

journal_title：Neurology

authors： Parker WD Jr

更新日期：1991-05-01 00:00:00

abstract：OBJECTIVE:Dominant, left anteromedial temporal lobe resection (AMTLR) for seizure control carries risks to verbal episodic memory and visual object naming. Consistent with traditional thinking, verbal memory decline is considered a consequence of hippocampal removal and naming decline has been attributed to lateral tem...

journal_title：Neurology

authors： Hamberger MJ,Seidel WT,McKhann GM 2nd,Goodman RR

更新日期：2010-05-11 00:00:00

abstract：:The authors recruited 19 nonambulant patients with Guillain-Barré syndrome into a pilot, double-blind, randomized, placebo-controlled safety trial of interferon beta 1a (IFN[beta]-1a) (Rebif). Participants received IFN[beta]-1a or placebo subcutaneously three times weekly, 22 microg for the first week and then 44 micr...

journal_title：Neurology

authors： Pritchard J,Gray IA,Idrissova ZR,Lecky BR,Sutton IJ,Swan AV,Willison HJ,Winer JB,Hughes RA

更新日期：2003-11-11 00:00:00

abstract：:The authors describe two patients with clinical manifestations of the osmotic demyelination syndrome (ODS) and unusual MRI findings of gadolinium-enhancing peripheral cortical abnormalities. They propose that these represent extrapontine manifestations of ODS because neither patient had a notable hypoxic-ischemic insu...

journal_title：Neurology

authors： Calakos N,Fischbein N,Baringer JR,Jay C

更新日期：2000-10-10 00:00:00

abstract：:We report a randomized, double-blind, parallel group, placebo-controlled study to test the effects of the acetylcholinesterase inhibitor, donepezil (5 mg/d for 30 days), on aircraft pilot performance in 18 licensed pilots with mean age of 52 years. After 30 days of treatment, the donepezil group showed greater ability...

journal_title：Neurology

authors： Yesavage JA,Mumenthaler MS,Taylor JL,Friedman L,O'Hara R,Sheikh J,Tinklenberg J,Whitehouse PJ

更新日期：2002-07-09 00:00:00

abstract：OBJECTIVE:To assess the evidence demonstrating efficacy, tolerability, and safety of seven new antiepileptic drugs (AEDs) (gabapentin, lamotrigine, topiramate, tiagabine, oxcarbazepine, levetiracetam, and zonisamide) in the treatment of children and adults with refractory partial and generalized epilepsies. METHODS:A ...

journal_title：Neurology

authors： French JA,Kanner AM,Bautista J,Abou-Khalil B,Browne T,Harden CL,Theodore WH,Bazil C,Stern J,Schachter SC,Bergen D,Hirtz D,Montouris GD,Nespeca M,Gidal B,Marks WJ Jr,Turk WR,Fischer JH,Bourgeois B,Wilner A,Faught R

更新日期：2004-04-27 00:00:00

abstract：OBJECTIVE:Paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder characterized by recurrent attacks of hyperkinetic movements. PKD can be isolated or associated with benign infantile seizures as part of the infantile convulsions with choreoathetosis (ICCA) syndrome. Mutations in the PRRT2 gene were recently identif...

journal_title：Neurology

authors： Méneret A,Grabli D,Depienne C,Gaudebout C,Picard F,Dürr A,Lagroua I,Bouteiller D,Mignot C,Doummar D,Anheim M,Tranchant C,Burbaud P,Jedynak CP,Gras D,Steschenko D,Devos D,Billette de Villemeur T,Vidailhet M,Brice A,

更新日期：2012-07-10 00:00:00

abstract：:We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfe...

journal_title：Neurology

authors： Nisipeanu P,Inzelberg R,Blumen SC,Carasso RL,Hattori N,Matsumine H,Mizuno Y

更新日期：1999-10-22 00:00:00

abstract：:Acid protease activity was increased in skeletal muscle of patients with ALS. The highest levels of activity were found in individuals with the clinically and histologically most affected muscle. High levels of proteolytic activity correlated with the extent of muscle atrophy, the presence of target fibers and the ove...

journal_title：Neurology

authors： Antel JP,Chelmicka-Schorr E,Sportiello M,Stefansson K,Wollmann RL,Arnason BG

更新日期：1982-08-01 00:00:00

abstract：BACKGROUND:Two recent studies suggest that the risk of ALS is increased among Gulf War veterans. It is not known whether military service outside of the Gulf War is associated with increased risk of ALS. METHODS:The authors prospectively assessed the relation between service in the military and ALS mortality among par...

journal_title：Neurology

authors： Weisskopf MG,O'Reilly EJ,McCullough ML,Calle EE,Thun MJ,Cudkowicz M,Ascherio A

更新日期：2005-01-11 00:00:00

abstract：:Systematic screening of many compounds in animal models led to identification of the established antiepileptic drugs (AEDs). By contrast, the newer AEDs were specifically designed to enhance an inhibitory process or to inhibit a specific excitatory pathway. However, it was later discovered that some of the designed dr...

journal_title：Neurology

authors： Moshé SL

更新日期：2000-01-01 00:00:00

abstract：OBJECTIVE:To identify the disease-causing gene of a family with upper limb predominant, slowly progressive amyotrophic lateral sclerosis (ALS), which was diagnosed as flail arm syndrome (FAS). METHODS:After causation of 24 known ALS genes was excluded by targeted next-generation sequencing, whole-exome sequencing was ...

journal_title：Neurology

authors： Liu Q,Shu S,Wang RR,Liu F,Cui B,Guo XN,Lu CX,Li XG,Liu MS,Peng B,Cui LY,Zhang X

更新日期：2016-10-25 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：OBJECTIVE:To evaluate the influence of the single nucleotide polymorphism rs1080985 in the cytochrome P450 2D6 (CYP2D6) gene on the efficacy of donepezil in patients with mild to moderate Alzheimer disease (AD). METHODS:This was a multicenter, prospective cohort study of 127 white patients with AD according to the Nat...

journal_title：Neurology

authors： Pilotto A,Franceschi M,D'Onofrio G,Bizzarro A,Mangialasche F,Cascavilla L,Paris F,Matera MG,Pilotto A,Daniele A,Mecocci P,Masullo C,Dallapiccola B,Seripa D

更新日期：2009-09-08 00:00:00

abstract：:We studied two families with an unusual variant of neurofibromatosis (NF). The first family had spinal neurofibromas and café au lait spots (CLS), the second spinal neurofibromas without CLS. Other signs of NF1 or NF2, such as cutaneous tumors, Lisch nodules, or acoustic tumors, were absent. The inheritance pattern in...

journal_title：Neurology

authors： Pulst SM,Riccardi VM,Fain P,Korenberg JR

更新日期：1991-12-01 00:00:00

abstract：OBJECTIVE:To empirically validate the expanded concept of mild cognitive impairment (MCI), which differentiates between four clinical subtypes-amnestic MCI-single domain, amnestic MCI-multiple domains, nonamnestic MCI-single domain, and nonamnestic MCI-multiple domains-and to examine the prevalence, course, and outcome...

journal_title：Neurology

authors： Busse A,Hensel A,Gühne U,Angermeyer MC,Riedel-Heller SG

更新日期：2006-12-26 00:00:00

abstract：:We evaluated the therapeutic efficacy of gamma aminobutyric acid (GABA) system stimulation in four patients with classical Huntington's disease and one with the hypokinetic-rigid form. Orally administered THIP (4,5,6,7-tetrahydroisoxazolo-[5,4,-c] pyridin-3-ol), a novel GABA receptor agonist, failed to improve motor o...

journal_title：Neurology

authors： Foster NL,Chase TN,Denaro A,Hare TA,Tamminga CA

更新日期：1983-05-01 00:00:00

abstract：:Age at 1st risk for seizures may predict anomia following dominant anterior temporal lobectomy. We assessed confrontation naming before and 2 to 3 weeks after surgery in 45 right-handed patients grouped by side of focus and presence or absence of early (less than or equal to 5 years) risk factors. After left lobectomy...

journal_title：Neurology

authors： Stafiniak P,Saykin AJ,Sperling MR,Kester DB,Robinson LJ,O'Connor MJ,Gur RC

更新日期：1990-10-01 00:00:00

abstract：:Two patients with visual agnosia underwent visual recognition and neuropsychological tests to characterize their perceptual functioning. Both had an initial "apperceptive profile" and evolved from cortical blindness. One had carbon monoxide intoxication and incidental agenesis of the splenium of the corpus callosum; t...

journal_title：Neurology

authors： Mendez MF

更新日期：1988-11-01 00:00:00

abstract：BACKGROUND:The use of volumetric MRI as a biomarker for assessing transitions to dementia presumes that more rapid brain loss marks the clinical transition from benign aging to mild cognitive impairment (MCI). The trajectory of this volume loss relative to the timing of the clinical transition to dementia has not been ...

journal_title：Neurology

authors： Carlson NE,Moore MM,Dame A,Howieson D,Silbert LC,Quinn JF,Kaye JA

更新日期：2008-03-11 00:00:00

abstract：:Intramedullary cysticercosis of the spinal cord is rare; there have been only 26 previous cases. We describe a patient with low back pain, paraparesis, lumbosacral sensory loss, and signs of meningeal irritation. The clinical diagnosis was spinal cord tumor, but at surgery there was a cysticercus cyst within the lumbo...

journal_title：Neurology

authors： Akiguchi I,Fujiwara T,Matsuyama H,Muranaka H,Kameyama M

更新日期：1979-11-01 00:00:00