Spinal muscular atrophy is not the result of mutations at the beta-hexosaminidase or GM2-activator locus.

abstract：:We investigated the status of the apolipoprotein E allele in 538 participants in the incidence phase of the ongoing Shanghai Survey of Dementia, including 103 demented subjects, 72 with mild cognitive impairment and 363 cognitively normal. The apo E epsilon 4 allele was present in 10.2% of control subjects and the all...

journal_title：Neurology

authors： Katzman R,Zhang MY,Chen PJ,Gu N,Jiang S,Saitoh T,Chen X,Klauber M,Thomas RG,Liu WT,Yu ES

更新日期：1997-09-01 00:00:00

abstract：OBJECTIVES:To investigate whether the human sciatic nerve might have a consistent somatotopic organization according to proximal fascicle input by spinal nerves. METHODS:Twelve patients (55.3 ± 15.5 years) with confirmed lesions of either the L5 or S1 spinal nerve root underwent magnetic resonance neurography of sciat...

journal_title：Neurology

authors： Bäumer P,Weiler M,Bendszus M,Pham M

更新日期：2015-04-28 00:00:00

abstract：:The authors evaluated response, time to progression (TTP), survival, prognostic factors, and toxicity in 63 patients with a recurrent glioblastoma multiforme treated with procarbazine, lomustine, and vincristine (PCV) chemotherapy. Complete and partial response was observed in two (3%) and five patients (8%). In 16 pa...

journal_title：Neurology

authors： Kappelle AC,Postma TJ,Taphoorn MJ,Groeneveld GJ,van den Bent MJ,van Groeningen CJ,Zonnenberg BA,Sneeuw KC,Heimans JJ

更新日期：2001-01-09 00:00:00

abstract：OBJECTIVE:To identify the genetic cause of a familial form of late-onset action myoclonus in 2 unrelated patients. Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative. METHODS:Exome sequen...

journal_title：Neurology

authors： Canafoglia L,Robbiano A,Pareyson D,Panzica F,Nanetti L,Giovagnoli AR,Venerando A,Gellera C,Franceschetti S,Zara F

更新日期：2014-06-03 00:00:00

abstract：OBJECTIVE:To examine the lifetime prevalence and the concordance risk of cluster headache (CH) in a twin sample representative of the Swedish general population. METHODS:The authors assessed CH as defined by the second edition of the International Classification of Headache Disorders in 31,750 registered twins born fr...

journal_title：Neurology

authors： Ekbom K,Svensson DA,Pedersen NL,Waldenlind E

更新日期：2006-09-12 00:00:00

abstract：OBJECTIVE:To evaluate an observational-behavioral pain tool among individuals with acute poststroke aphasia. METHODS:We performed a randomized, double-blind, controlled study of experimental pain assessment among 36 adult patients with acute poststroke aphasia. Patients were administered 3 levels of mechanical pain, i...

journal_title：Neurology

authors： Soares CD,Panuganti PK,Shrivastava A,Aroor S,Keinath KM,Bromagen MC,Howard ME,Carlson C,Smith JH

更新日期：2018-08-28 00:00:00

abstract：OBJECTIVE:To determine factors (including the role of specific disease modulatory treatments [DMTs]) associated with (1) baseline, (2) on-treatment, and (3) change (from treatment start to on-treatment assessment) in plasma neurofilament light chain (pNfL) concentrations in relapsing-remitting multiple sclerosis (RRMS)...

journal_title：Neurology

authors： Delcoigne B,Manouchehrinia A,Barro C,Benkert P,Michalak Z,Kappos L,Leppert D,Tsai JA,Plavina T,Kieseier BC,Lycke J,Alfredsson L,Kockum I,Kuhle J,Olsson T,Piehl F

更新日期：2020-03-17 00:00:00

abstract：:We describe a case of Burkitt's cell acute lymphoblastic leukemia presenting with the bilateral numb chin syndrome as the initial symptom of the disease. Postmortem study of the trigeminal nerve showed heavy infiltrations of leukemic cells and destruction of axon and myelin by leukemic cells in the mandibular nerve. ...

journal_title：Neurology

authors： Kuroda Y,Fujiyama F,Ohyama T,Watanabe T,Endo C,Neshige R,Kakigi R

更新日期：1991-03-01 00:00:00

abstract：BACKGROUND:Treatment of aneurysmal subarachnoid hemorrhage (SAH) has changed substantially over the last 25 years but there is a lack of reliable population-based data on whether case-fatality or functional outcomes have improved. METHODS:We determined changes in the standardized incidence and outcome of SAH in the sa...

journal_title：Neurology

authors： Lovelock CE,Rinkel GJ,Rothwell PM

更新日期：2010-05-11 00:00:00

abstract：:A 20-year-old mentally retarded woman, who had a history of intractable epileptic seizures since early childhood, had prolonged episodes of confusion, decreased responsiveness and automatic behavior lasting as long as 2 days. These are believed to represent epileptic status of the complex partial (psychomotor) type be...

journal_title：Neurology

authors： Markand ON,Wheeler GL,Pollack SL

更新日期：1978-02-01 00:00:00

abstract：:Methionine-enkephalin, substance P, and homovanillic acid concentrations were measured in the CSF of subjects not affected by neurologic disorders (group 1), and in parkinsonian patients who had a slight or moderate (group 2) or severe (group 3) disability. Homovanillic acid and substance P concentrations in the CSF o...

journal_title：Neurology

authors： Pezzoli G,Panerai AE,Di Giulio A,Longo A,Passerini D,Carenzi A

更新日期：1984-04-01 00:00:00

abstract：:As the substantia nigra degenerates in Parkinson's disease (PD), the nigrostriatal pathway is disrupted, reducing striatal dopamine and producing PD symptoms. Although dopamine does not readily cross the blood-brain barrier, its precursor, levodopa, does. Levodopa is absorbed in the small bowel and is rapidly cataboli...

journal_title：Neurology

authors： Koller WC,Rueda MG

更新日期：1998-06-01 00:00:00

abstract：OBJECTIVE:We sought to identify intracranial EEG patterns characteristic of epileptogenic tubers and to understand the contribution of perituberal cortex. METHODS:Twenty-three intracranial EEG monitoring studies were reviewed from 17 children aged 1.3-7.7 years with tuberous sclerosis complex and intractable multifoca...

journal_title：Neurology

authors： Mohamed AR,Bailey CA,Freeman JL,Maixner W,Jackson GD,Harvey AS

更新日期：2012-12-04 00:00:00

abstract：OBJECTIVE:To characterize the nature and degree of cognitive morbidity in patients with chronic temporal lobe epilepsy compared with healthy control subjects, determine the association between the duration of epilepsy and cognitive morbidity, and ascertain whether there are factors that moderate the association between...

journal_title：Neurology

authors： Oyegbile TO,Dow C,Jones J,Bell B,Rutecki P,Sheth R,Seidenberg M,Hermann BP

更新日期：2004-05-25 00:00:00

abstract：OBJECTIVE:To evaluate relationships among cognitive, behavioral, and psychiatric/psychosocial measures assessed in a multicenter cohort of patients with amyotrophic lateral sclerosis (ALS). METHODS:Recently diagnosed patients with definite or probable ALS diagnosis were administered 7 standardized psychiatric/psychoso...

journal_title：Neurology

authors： Rabkin J,Goetz R,Murphy JM,Factor-Litvak P,Mitsumoto H,ALS COSMOS Study Group.

更新日期：2016-09-27 00:00:00

abstract：:In clinical trials, copolymer I (Cop 1) appears to reduce the number of exacerbations in early relapsing-remitting multiple sclerosis. The mechanism of this effect is uncertain, but Cop 1 also reduces the severity of experimental allergic encephalomyelitis and inhibits the response of murine myelin basic protein (MBP)...

journal_title：Neurology

authors： Burns J,Littlefield K

更新日期：1991-08-01 00:00:00

abstract：:Photoparoxysmal response (PPR) is sometimes incidentally encountered in EEGs performed for evaluation of nonepileptic symptoms. We conducted the first long-term study of a cohort of nonepileptic patients to determine their risk of having seizures subsequent to incidental recording of PPR. After 6 to 12 years (mean, 9 ...

journal_title：Neurology

authors： So EL,Ruggles KH,Ahmann PA,Olson KA

更新日期：1993-09-01 00:00:00

abstract：:A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber...

journal_title：Neurology

authors： Mancuso M,Filosto M,Mootha VK,Rocchi A,Pistolesi S,Murri L,DiMauro S,Siciliano G

更新日期：2004-06-08 00:00:00

abstract：:Serum from 35 cases of naturally occurring acquired canine myasthenia gravis (MG) were assayed for patterns of autoantibody specificities against canine acetylcholine receptor (AChR) using monoclonal antibodies (mAbs) and antiserum against defined regions of the AChR as competitive inhibitors of autoantibody binding. ...

journal_title：Neurology

authors： Shelton GD,Cardinet GH,Lindstrom JM

更新日期：1988-09-01 00:00:00

abstract：OBJECTIVE:To evaluate topiramate as monotherapy in adults and children with recently diagnosed, localization-related epilepsy, comparing two dosages of topiramate in a multicenter, randomized, double-blind study. METHODS:Adults and children (>/=3 years of age) were eligible if the maximum interval since epilepsy diagn...

journal_title：Neurology

authors： Gilliam FG,Veloso F,Bomhof MA,Gazda SK,Biton V,Ter Bruggen JP,Neto W,Bailey C,Pledger G,Wu SC

更新日期：2003-01-28 00:00:00

abstract：:We tested the hypothesis that an anticardiolipin antibody (aCL) titer of > or = 10 IgG phospholipid (GPL) at the time of an index ischemic stroke is associated with an increased risk of subsequent thrombo-occlusive events or death. First-time ischemic stroke patients from the Antiphospholipid Antibodies and Stroke Stu...

journal_title：Neurology

authors：

更新日期：1997-01-01 00:00:00

abstract：BACKGROUND:Transcranial contrast Doppler studies have shown an increased prevalence of right-to-left shunts in patients with migraine with aura compared with controls. The anatomy and size of these right-to-left shunts have never been directly assessed. METHODS:In a cross-sectional case-control study, the authors perf...

journal_title：Neurology

authors： Schwerzmann M,Nedeltchev K,Lagger F,Mattle HP,Windecker S,Meier B,Seiler C

更新日期：2005-11-08 00:00:00

abstract：OBJECTIVES:Based on the hippocampus disconnection hypothesis in Alzheimer disease (AD), which postulates that uncoupling from cortical inputs contributes to disinhibition-like changes in hippocampus activity, we suggested that in patients with AD, the more the intrinsic functional connectivity between hippocampus and p...

journal_title：Neurology

authors： Tahmasian M,Pasquini L,Scherr M,Meng C,Förster S,Mulej Bratec S,Shi K,Yakushev I,Schwaiger M,Grimmer T,Diehl-Schmid J,Riedl V,Sorg C,Drzezga A

更新日期：2015-05-12 00:00:00

abstract：:Ciliary neurotrophic factor (CNTF) is a neuroactive cytokine found in Schwann cells, which appears to be released in response to nerve injury. The ALS CNTF Treatment Study (ACTS) clinical trial was a phase II-III randomized, placebo-controlled, double-blind study designed to evaluate the safety, tolerability, and effi...

journal_title：Neurology

authors：

更新日期：1996-05-01 00:00:00

abstract：:The authors used PET to show that the abnormal pattern of cerebral blood flow (CBF) activation described in PD is normalized by electrical stimulation of subthalamic nucleus. Improvement in bradykinesia correlated with increase in CBF due to stimulation in the supplementary motor area and anterior cingulate cortex. Co...

journal_title：Neurology

authors： Strafella AP,Dagher A,Sadikot AF

更新日期：2003-03-25 00:00:00

abstract：OBJECTIVE:Frontotemporal lobar degeneration (FTLD) encompasses a variety of clinicopathologic entities. The antemortem prediction of the underlying pathologic lesions is reputed to be difficult. This study sought to characterize correlations between 1) the different clinical variants of primary progressive language and...

journal_title：Neurology

authors： Deramecourt V,Lebert F,Debachy B,Mackowiak-Cordoliani MA,Bombois S,Kerdraon O,Buée L,Maurage CA,Pasquier F

更新日期：2010-01-05 00:00:00

abstract：:Five men with degenerative neuromuscular diseases (three with amyotrophic lateral sclerosis [ALS] and two with Duchenne's muscular dystrophy [DMD]) who had respiratory failure were treated with intermittent negative pressure ventilation (NPV). One patient with ALS in severe acute respiratory failure was successfully t...

journal_title：Neurology

authors： Braun SR,Sufit RL,Giovannoni R,O'Connor M,Peters H

更新日期：1987-12-01 00:00:00

abstract：OBJECTIVE:To investigate whether baseline concentrations of plasma total tau (t-tau) and neurofilament light (NfL) chain proteins are associated with annual percent change (APC) of the basal forebrain cholinergic system (BFCS) in cognitively intact older adults at risk for Alzheimer disease (AD). METHODS:This was a la...

journal_title：Neurology

authors： Cavedo E,Lista S,Houot M,Vergallo A,Grothe MJ,Teipel S,Zetterberg H,Blennow K,Habert MO,Potier MC,Dubois B,Hampel H,INSIGHT-preAD Study Group.,Alzheimer Precision Medicine Initiative

更新日期：2020-01-07 00:00:00

abstract：OBJECTIVE:To investigate whether vitamin D, smoking, and anti-Epstein-Barr virus (EBV) antibody concentrations predict long-term cognitive status and neuroaxonal injury in multiple sclerosis (MS). METHODS:This study was conducted among 278 patients with clinically isolated syndrome who participated in the clinical tri...

journal_title：Neurology

authors： Cortese M,Munger KL,Martínez-Lapiscina EH,Barro C,Edan G,Freedman MS,Hartung HP,Montalbán X,Foley FW,Penner IK,Hemmer B,Fox EJ,Schippling S,Wicklein EM,Kappos L,Kuhle J,Ascherio A,BENEFIT Study Group.

更新日期：2020-05-05 00:00:00

abstract：OBJECTIVES:There is currently much interest in biomarkers of disease activity in frontotemporal lobar degeneration (FTLD). We assessed MRI and behavioral measures of progression in a longitudinal FTLD cohort. METHODS:Thirty-two patients with FTLD (11 behavioral variant frontotemporal dementia [bvFTD], 11 semantic deme...

journal_title：Neurology

authors： Gordon E,Rohrer JD,Kim LG,Omar R,Rossor MN,Fox NC,Warren JD

更新日期：2010-02-23 00:00:00