Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

abstract：:Gilles de la Tourette's syndrome (TS) is a familial disorder that is often exacerbated by stress or fatigue. Here we present a family of a TS proband that has several members with obsessive-compulsive symptoms, a bleeding disorder, and an unusual sensitivity to heat. The proband, who is affected by all of these traits...

journal_title：Neurology

authors： Lombroso PJ,Mack G,Scahill L,King RA,Leckman JF

更新日期：1991-12-01 00:00:00

abstract：OBJECTIVE:To characterize children with new-onset seizures presenting as status epilepticus at a tertiary care children's hospital. METHODS:Prospectively collected data were reviewed from a database derived from a mandated critical care pathway. A total of 1,382 patients presented with new-onset seizures between 2001 ...

journal_title：Neurology

authors： Singh RK,Stephens S,Berl MM,Chang T,Brown K,Vezina LG,Gaillard WD

更新日期：2010-02-23 00:00:00

abstract：:Migraine, especially migraine with aura (MA), is an established risk factor for ischemic lesions of the brain. Recent evidence has also linked migraine to a broader range of ischemic vascular disorders including angina, myocardial infarction, coronary revascularization, claudication, and cardiovascular mortality. The ...

journal_title：Neurology

authors： Bigal ME,Kurth T,Hu H,Santanello N,Lipton RB

更新日期：2009-05-26 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：BACKGROUND:There is evidence that angiotensin-converting enzyme inhibitors (ACEIs) reduce the risk of stroke. However, it is unclear whether ACEI use before stroke provides a vasoprotective effect resulting in less severe stroke. METHODS:We ascertained all strokes occurring in a defined population in Melbourne, Austra...

journal_title：Neurology

authors： Chitravas N,Dewey HM,Nicol MB,Harding DL,Pearce DC,Thrift AG

更新日期：2007-05-15 00:00:00

abstract：OBJECTIVE:To determine whether cognitive impairment in Parkinson disease (PD) and Alzheimer disease (AD) derives from the same network pathology. METHODS:We analyzed 18F-fluorodeoxyglucose PET scans from 40 patients with AD and 40 age-matched healthy controls from the Alzheimer's Disease Neuroimaging Initiative and sc...

journal_title：Neurology

authors： Mattis PJ,Niethammer M,Sako W,Tang CC,Nazem A,Gordon ML,Brandt V,Dhawan V,Eidelberg D

更新日期：2016-11-01 00:00:00

abstract：:We have studied one family of a pedigree in which bulbospinal muscular atrophy and protanopia were segregated. Genotypes for these disorders were obtained on three generations, and the maximum likelihood estimate of recombination fraction was 0.4 with the lod score method. The results indicated that the two loci are n...

journal_title：Neurology

authors： Mukai E,Yasuma T

更新日期：1987-06-01 00:00:00

abstract：OBJECTIVE:This study explored the association between long-term epilepsy surgery outcome and changes in depressive symptoms. METHODS:Adults were enrolled between 1996 and 2001 in a multicenter prospective study to evaluate outcomes of resective epilepsy surgery. The extent of depressive symptoms and depression case st...

journal_title：Neurology

authors： Hamid H,Liu H,Cong X,Devinsky O,Berg AT,Vickrey BG,Sperling MR,Shinnar S,Langfitt JT,Walczak TS,Barr WB,Dziura J,Bazil CW,Spencer SS

更新日期：2011-11-29 00:00:00

abstract：:We studied six patients with the clinical, sonographic, CT, and biochemical profile of minimal euthyroid Graves' disease (MEGD). This syndrome was characterized clinically by small but obtrusive and measurable amounts of diplopia related to endocrine ophthalmopathy and the conspicuous absence of systemic or laboratory...

journal_title：Neurology

authors： Spector RH,Carlisle JA

更新日期：1987-11-01 00:00:00

abstract：BACKGROUND:Hypothalamic hamartomas (HHs), rare developmental abnormalities of the inferior hypothalamus, often cause refractory, symptomatic, mixed epilepsy, including gelastic seizures. We present 37 patients with HH who underwent transcortical transventricular endoscopic resection. METHODS:Between October 2003 and A...

journal_title：Neurology

authors： Ng YT,Rekate HL,Prenger EC,Wang NC,Chung SS,Feiz-Erfan I,Johnsonbaugh RE,Varland MR,Kerrigan JF

更新日期：2008-04-22 00:00:00

abstract：:Reflex sympathetic dystrophy (RSD) is a relatively common disabling disorder of unknown pathophysiology. From a cohort of 52 patients, carefully selected to fulfill the recently formulated diagnostic criteria for RSD, venous blood samples were taken for typing of class I and II major histocompatibility antigens. The f...

journal_title：Neurology

authors： Kemler MA,van de Vusse AC,van den Berg-Loonen EM,Barendse GA,van Kleef M,Weber WE

更新日期：1999-10-12 00:00:00

abstract：:Proton nuclear magnetic resonance spectroscopy is a noninvasive technique allowing the localized, in vivo detection of proton-containing brain metabolites. We used this technique to study eight patients with cerebral infarction or ischemia. A stimulated echo-pulse sequence with chemical shift imaging was used to acqui...

journal_title：Neurology

authors： Ford CC,Griffey RH,Matwiyoff NA,Rosenberg GA

更新日期：1992-07-01 00:00:00

abstract：:Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor mi...

journal_title：Neurology

authors： Sobreira C,Hirano M,Shanske S,Keller RK,Haller RG,Davidson E,Santorelli FM,Miranda AF,Bonilla E,Mojon DS,Barreira AA,King MP,DiMauro S

更新日期：1997-05-01 00:00:00

abstract：:The goal of pharmacologic therapy for patients with epilepsy is to suppress seizures without side effects. There is growing interest in developing antiepileptogenic drugs capable of preventing the onset of seizures in patients at high risk and inducing a permanent remission of seizures in patients with epilepsy, i.e.,...

journal_title：Neurology

authors： Schachter SC

更新日期：2002-11-12 00:00:00

abstract：OBJECTIVE:To use a historical placebo control design to determine whether lithium carbonate slows progression of amyotrophic lateral sclerosis (ALS). METHODS:A phase II trial was conducted at 10 sites in the Western ALS Study Group using similar dosages (300-450 mg/day), target blood levels (0.3-0.8 mEq/L), outcome me...

journal_title：Neurology

authors： Miller RG,Moore DH,Forshew DA,Katz JS,Barohn RJ,Valan M,Bromberg MB,Goslin KL,Graves MC,McCluskey LF,McVey AL,Mozaffar T,Florence JM,Pestronk A,Ross M,Simpson EP,Appel SH,WALS Study Group.

更新日期：2011-09-06 00:00:00

abstract：BACKGROUND:Frontotemporal dementia (FTD) is currently distinguished from AD primarily on the basis of behavioral features because studies of cognition have shown negligible or inconsistent differences. However, the poor discriminability of cognitive measures may relate to reliance on imprecise clinically diagnosed grou...

journal_title：Neurology

authors： Rascovsky K,Salmon DP,Ho GJ,Galasko D,Peavy GM,Hansen LA,Thal LJ

更新日期：2002-06-25 00:00:00

abstract：:Immitation synkinesia is usually associated with thalamic or parietal lesions. Analysis of three cases shows that the lesions may affect the posterior columns of the spinal cord or even the peripheral nervous system. In our cases, two facts stand out, a large measure of integrity of motor activity and predominant dist...

journal_title：Neurology

authors： Cambier J,Dehen H

更新日期：1977-07-01 00:00:00

abstract：OBJECTIVE:The assessment of behavioral disturbances in amyotrophic lateral sclerosis (ALS) is important because of the overlap with the behavioral variant of frontotemporal dementia (ALS-bvFTD). Motor symptoms and dysarthria are not taken into account in currently used behavioral questionnaires. We examined the clinime...

journal_title：Neurology

authors： Raaphorst J,Beeldman E,Schmand B,Berkhout J,Linssen WH,van den Berg LH,Pijnenburg YA,Grupstra HF,Weikamp JG,Schelhaas HJ,Papma JM,van Swieten JC,de Visser M,de Haan RJ

更新日期：2012-09-25 00:00:00

abstract：OBJECTIVE:To investigate whether admission hyperglycemia predicts poststroke infections and, if so, whether poststroke infections modify the effect of admission hyperglycemia on functional outcome in ischemic stroke. METHODS:We used data from acute ischemic stroke patients in the Preventive Antibiotics in Stroke Study...

journal_title：Neurology

authors： Zonneveld TP,Nederkoorn PJ,Westendorp WF,Brouwer MC,van de Beek D,Kruyt ND,PASS Investigators.

更新日期：2017-04-11 00:00:00

abstract：BACKGROUND:Posterior cortical atrophy (PCA) is a progressive dementia characterized by prominent disorders of higher visual processing, affecting both dorsal and ventral streams to cause Balint's syndrome, alexia, and visual agnosia. OBJECTIVE:To define the cognitive profile of PCA and compare to the typical, primary ...

journal_title：Neurology

authors： McMonagle P,Deering F,Berliner Y,Kertesz A

更新日期：2006-02-14 00:00:00

abstract：:Erythrocyte calcium transport as a function of free [Ca++] was examined using inside-out vesicles from eight pairs of patients with Duchenne dystrophy and age- and sex-matched controls. The Km for Ca++ of the transport protein and the Vmax were higher in the Duchenne vesicles in seven of the eight pairs. The mean Km a...

journal_title：Neurology

authors： Mollman JE,Cardenas JC,Pleasure DE

更新日期：1980-11-01 00:00:00

abstract：BACKGROUND:Silas Weir Mitchell (1829 to 1914), one of the most important neurologists in American Medicine, was known for his seminal work on the phantom limb syndrome, causalgia, and nerve injuries. He was also a prolific writer of novels and short stories. The neurologic content of this fiction has not been studied. ...

journal_title：Neurology

authors： Louis ED,Horn S,Roth LA

更新日期：2006-02-14 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：:We enrolled 11 patients with secondary progressive MS in a randomized single-masked cross-over study of plasma exchange (PE) in combination with azathioprine 2 mg/kg. PE was performed once a week for 4 weeks and thereafter every second week for 20 weeks (14 treatments). Eight patients completed the whole trial, and th...

journal_title：Neurology

authors： Sørensen PS,Wanscher B,Szpirt W,Jensen CV,Ravnborg M,Christiansen P,Schreiber K,Nordenbo A

更新日期：1996-06-01 00:00:00

abstract：OBJECTIVE:To assess the onset of ocrelizumab efficacy on brain MRI measures of disease activity in the phase II study in relapsing-remitting multiple sclerosis (RRMS), and relapse rate in the pooled phase III studies in relapsing multiple sclerosis (RMS). METHODS:Brain MRI activity was determined in the phase II trial...

journal_title：Neurology

authors： Barkhof F,Kappos L,Wolinsky JS,Li DKB,Bar-Or A,Hartung HP,Belachew S,Han J,Julian L,Sauter A,Napieralski J,Koendgen H,Hauser SL

更新日期：2019-11-05 00:00:00

abstract：:We performed serial baseline and gadolinium (Gd)-DTPA-enhanced MRI in 4 patients with definite multiple sclerosis. Studies were performed every month for a total of 4 scans. We obtained short TR/short TE sequences at 10 and 60 minutes after Gd-DTPA injection. All patients had multiple hyperintense lesions seen on base...

journal_title：Neurology

authors： Bastianello S,Pozzilli C,Bernardi S,Bozzao L,Fantozzi LM,Buttinelli C,Fieschi C

更新日期：1990-04-01 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：OBJECTIVE:To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, SCN4A. METHODS:A combination of whole exome sequencing and targeted mutation analysis, followed by voltage-clamp studies of mutant sodium ...

journal_title：Neurology

authors： Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC

更新日期：2019-03-26 00:00:00

abstract：OBJECTIVE:To assess survival and functional outcome in patients endotracheally intubated after ischemic stroke (IS) or spontaneous intracerebral hemorrhage (ICH). BACKGROUND:Endotracheal intubation is both a necessary life support intervention and a measure of severity in IS or ICH. Knowledge of associated clinical va...

journal_title：Neurology

authors： Bushnell CD,Phillips-Bute BG,Laskowitz DT,Lynch JR,Chilukuri V,Borel CO

更新日期：1999-04-22 00:00:00

abstract：OBJECTIVES:To survey US physicians involved in acute stroke care to determine the proportion of hospitals that currently meet the recommended Brain Attack Coalition (BAC) criteria for Primary Stroke Centers (PSC) and obtain opinions regarding the value of stroke centers. METHODS:A survey regarding the BAC guidelines f...

journal_title：Neurology

authors： Kidwell CS,Shephard T,Tonn S,Lawyer B,Murdock M,Koroshetz W,Alberts M,Hademenos GJ,Saver JL

更新日期：2003-05-13 00:00:00