The role of muscle biopsy in investigating isolated muscle pain.

abstract：OBJECTIVES:More than 30 different rare mutations, including copy number variants (CNVs), in the amyloid precursor protein gene (APP) cause early-onset familial Alzheimer disease (EOFAD), whereas the contribution of common APP variants to disease risk remains controversial. In this study we systematically assessed the r...

journal_title：Neurology

authors： Hooli BV,Mohapatra G,Mattheisen M,Parrado AR,Roehr JT,Shen Y,Gusella JF,Moir R,Saunders AJ,Lange C,Tanzi RE,Bertram L

更新日期：2012-04-17 00:00:00

abstract：:From 536 patients with the CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis), seven were identified as having peripheral neuropathy not attributable to another cause. Peripheral neuropathy developed 0 to 25 years after their first symptoms of scleroderma. Unex...

journal_title：Neurology

authors： Dyck PJ,Hunder GG,Dyck PJ

更新日期：1997-12-01 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：OBJECTIVE:Idiopathic REM sleep behavior disorder is a parasomnia characterized by dream enactment and is commonly a prediagnostic sign of parkinsonism and dementia. Since risk factors have not been defined, we initiated a multicenter case-control study to assess environmental and lifestyle risk factors for REM sleep be...

journal_title：Neurology

authors： Postuma RB,Montplaisir JY,Pelletier A,Dauvilliers Y,Oertel W,Iranzo A,Ferini-Strambi L,Arnulf I,Hogl B,Manni R,Miyamoto T,Mayer G,Stiasny-Kolster K,Puligheddu M,Ju Y,Jennum P,Sonka K,Santamaria J,Fantini ML,Zucconi

更新日期：2012-07-31 00:00:00

abstract：:We measured the duration and amplitude of saccades in three normal subjects, eight patients with myasthenia gravis, and eight patients with nonmyasthenic ocular palsies. Saccades were examined at the start of a repetitive saccade task, after 3 minutes of activity, and 1 minute after administration of edrophonium. The ...

journal_title：Neurology

authors： Barton JJ,Jama A,Sharpe JA

更新日期：1995-11-01 00:00:00

abstract：OBJECTIVE:The primary objective of this research was to characterize the movement disorders associated with FOXG1 mutations. METHODS:We identified patients with FOXG1 mutations who were referred to either a tertiary movement disorder clinic or tertiary epilepsy service and retrospectively reviewed medical records, cli...

journal_title：Neurology

authors： Papandreou A,Schneider RB,Augustine EF,Ng J,Mankad K,Meyer E,McTague A,Ngoh A,Hemingway C,Robinson R,Varadkar SM,Kinali M,Salpietro V,O'Driscoll MC,Basheer SN,Webster RI,Mohammad SS,Pula S,McGowan M,Trump N,Jenkin

更新日期：2016-05-10 00:00:00

abstract：:We investigated the heterogeneity of serum antibodies to acetylcholine receptor (AChR) by competition with nine antihuman monoclonal antibodies in a cross-sectional study of 36 patients with myasthenia gravis (MG), and in three who showed clinical improvement associated with decrease in total anti-AChR following immun...

journal_title：Neurology

authors： Whiting PJ,Vincent A,Newsom-Davis J

更新日期：1986-05-01 00:00:00

abstract：:The epsilon 4 isoform of apolipoprotein E (Apo-E) may confer genetic susceptibility for familial and sporadic Alzheimer's disease (AD). Because dementia in AD and Parkinson's disease (PD) share many biologic and clinical features, we determined the Apo-E genotypes for 79 patients with PD, 22 of whom were demented, and...

journal_title：Neurology

authors： Marder K,Maestre G,Cote L,Mejia H,Alfaro B,Halim A,Tang M,Tycko B,Mayeux R

更新日期：1994-07-01 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：OBJECTIVE:To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery. METHODS:Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical a...

journal_title：Neurology

authors： Berkovic SF,Staropoli JF,Carpenter S,Oliver KL,Kmoch S,Anderson GW,Damiano JA,Hildebrand MS,Sims KB,Cotman SL,Bahlo M,Smith KR,Cadieux-Dion M,Cossette P,Jedličková I,Přistoupilová A,Mole SE,ANCL Gene Discovery Consortiu

更新日期：2016-08-09 00:00:00

abstract：:The term "Wernicke's area" is most often used as an anatomical label for the gyri forming the lower posterior left sylvian fissure. Although traditionally this region was held to support language comprehension, modern imaging and neuropsychological studies converge on the conclusion that this region plays a much large...

journal_title：Neurology

authors： Binder JR

更新日期：2015-12-15 00:00:00

abstract：:A 15-year-old girl with a 3-year history of Rasmussen syndrome (RS) underwent left functional hemispherectomy by central disconnection. Clinical seizures then ceased. Five months postoperatively, ictal EEG discharges were associated with focal hyperperfusion on SPECT within the disconnected hypoperfused left hemispher...

journal_title：Neurology

authors： Thomas P,Zifkin B,Ghetâu G,Delalande O

更新日期：2003-01-14 00:00:00

abstract：:Using transcranial Doppler (TCD) ultrasonography in patients with high-grade (> or = 70%) internal carotid artery (ICA) stenosis, we examined the relation between the rate of TCD-detected silent microembolism of the ipsilateral middle cerebral artery and a history of recent (< 121 days) ischemic symptoms attributable ...

journal_title：Neurology

authors： Siebler M,Kleinschmidt A,Sitzer M,Steinmetz H,Freund HJ

更新日期：1994-04-01 00:00:00

abstract：OBJECTIVES:To determine the sensitivity and specificity of B-mode ultrasound in the diagnosis of neuromuscular diaphragmatic dysfunction, including phrenic neuropathy. METHODS:A prospective study of patients with dyspnea referred to the EMG laboratory over a 2-year time frame for evaluation of neuromuscular respirator...

journal_title：Neurology

authors： Boon AJ,Sekiguchi H,Harper CJ,Strommen JA,Ghahfarokhi LS,Watson JC,Sorenson EJ

更新日期：2014-09-30 00:00:00

abstract：OBJECTIVE:To evaluate the efficacy and safety of onabotulinumtoxinA 100 U in noncatheterizing patients with multiple sclerosis (MS) with urinary incontinence (UI) due to neurogenic detrusor overactivity (NDO). METHODS:In this randomized, double-blind phase III study, patients received onabotulinumtoxinA 100 U (n = 66)...

journal_title：Neurology

authors： Tullman M,Chartier-Kastler E,Kohan A,Keppenne V,Brucker BM,Egerdie B,Mandle M,Nicandro JP,Jenkins B,Denys P

更新日期：2018-08-14 00:00:00

abstract：BACKGROUND:Cross-sectional studies suggest gender differences in cognitive function and risk of AD in older persons. However, longitudinal studies comparing change in cognitive function and risk of AD in men and women have had mixed results. The authors investigated gender differences in rate of decline for different c...

journal_title：Neurology

authors： Barnes LL,Wilson RS,Schneider JA,Bienias JL,Evans DA,Bennett DA

更新日期：2003-06-10 00:00:00

abstract：:Subarachnoid neurolysis using ethanol to destroy selectively the posterior roots of the spinal cord is a method for providing pain relief in patients with advanced cancer. Weakness of the extremities is a complication of the procedure that has been attributed to spread of the neurolytic agent to the anterior roots. Th...

journal_title：Neurology

authors： McGarvey ML,Ferrante FM,Patel RS,Maljian JA,Stecker M

更新日期：2000-04-11 00:00:00

abstract：:This study examined the frequency of epilepsy in a consecutive series of patients who received a definitive diagnosis of psychogenic nonepileptic seizures (PNES) after completing inpatient video-EEG (VEEG) monitoring. Of the 1,590 patients receiving definitive diagnosis, 514 (32.3%) were diagnosed with PNES. Twenty-ni...

journal_title：Neurology

authors： Martin R,Burneo JG,Prasad A,Powell T,Faught E,Knowlton R,Mendez M,Kuzniecky R

更新日期：2003-12-23 00:00:00

abstract：:In the aftermath of an acute cardiovascular event such as stroke, patients and families frequently ask whether preceding circumstances such as viral illnesses, stress, and other medical or surgical events brought on the disease. Although it seems intuitive to patients and families that acute precipitants or disease tr...

journal_title：Neurology

authors： Jeerakathil T,Lo W

更新日期：2014-03-18 00:00:00

abstract：:The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital arachnoid cysts inherited as an autosomal dominant trait. A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a...

journal_title：Neurology

authors： Orlacchio A,Gaudiello F,Totaro A,Floris R,St George-Hyslop PH,Bernardi G,Kawarai T

更新日期：2004-05-25 00:00:00

abstract：:A 46-year-old man had metastasis to the central tegmental tract of the pons with ipsilateral olivary hypertrophy. Although the phenomenon of palatal myochlonus has been repeatedly correlated with the finding of olivary hypertrophy, no palatal myoclonus was noted on repeated examinations. The clinical pathologic correl...

journal_title：Neurology

authors： Robin JJ,Alcala H

更新日期：1975-08-01 00:00:00

abstract：:There are reports that patients with Parkinson's disease (PD) and Alzheimer's disease (AD) have reduced levels of thiolmethyltransferase (TMT) in erythrocyte membranes. TMT methylates thiols and thiocarbamates, thereby reducing their toxicity. We examined TMT levels in erythrocytes from patients with PD and AD and fro...

journal_title：Neurology

authors： Hurwitz A,Hubble JP,Glatt SL,Koller WC,Pollack J

更新日期：1995-10-01 00:00:00

abstract：:We studied five patients with nonhemorrhagic thalamic infarction with neuropsychological tests, CT, and somatosensory evoked responses (SERs). The three patients with left thalamic lesions had abnormalities of language, memory, visuospatial processing, intellect, and personality-changes compatible with dementia. The t...

journal_title：Neurology

authors： Graff-Radford NR,Eslinger PJ,Damasio AR,Yamada T

更新日期：1984-01-01 00:00:00

abstract：OBJECTIVE:To investigate the association between EVT start time in acute ischemic stroke (AIS) and mid-term functional outcome. METHODS:This retrospective cohort study included all AIS cases treated with EVT from two stroke center registries from January 2012 to December 2018. The primary outcome was the score on the ...

journal_title：Neurology

authors： Hajdu SD,Kaesmacher J,Michel PP,Sirimarco G,Knebel JF,Bartolini B,Kurmann CC,Puccinelli F,Mosimann PJ,Bonvin C,Arnold PM,Niederhäuser J,Eskandari A,Mordasini P,Gralla PJ,Fischer PU,Saliou PG

更新日期：2021-01-04 00:00:00

abstract：:The aim of this randomized, double-blind, placebo-controlled cross-over study was to test whether valproic acid relieves painful polyneuropathy. Thirty-one patients completed two treatment phases of 4 weeks' duration with valproic acid (1,500 mg daily) and placebo. There was no significant difference between valproic ...

journal_title：Neurology

authors： Otto M,Bach FW,Jensen TS,Sindrup SH

更新日期：2004-01-27 00:00:00

abstract：:Seizures are not expected in progressive multifocal leukoencephalopathy (PML), a condition considered to be restricted to the white matter. Review of medical records of 89 patients with possible or proven PML showed an 18% prevalence of seizures. Seizures usually responded well to treatment and did not affect survival...

journal_title：Neurology

authors： Lima MA,Drislane FW,Koralnik IJ

更新日期：2006-01-24 00:00:00

abstract：:Spinocerebellar ataxia type 6 (SCA6) is a newly classified autosomal-dominant cerebellar ataxia (ADCA) associated with CAG repeat expansion. We screened 111 patients with cerebellar ataxia for the SCA6 mutation. Of these, 35 patients were found to have expanded CAG repeats in the SCA6 gene, indicating that second to S...

journal_title：Neurology

authors： Matsumura R,Futamura N,Fujimoto Y,Yanagimoto S,Horikawa H,Suzumura A,Takayanagi T

更新日期：1997-11-01 00:00:00

abstract：BACKGROUND:Cerebral infarctions are common in older persons but their relationship with dementia and cognitive function remains controversial. METHODS:Participants were 164 older Catholic nuns, priests, and brothers who underwent annual clinical evaluation and brain autopsy at death. The authors quantified number and ...

journal_title：Neurology

authors： Schneider JA,Wilson RS,Cochran EJ,Bienias JL,Arnold SE,Evans DA,Bennett DA

更新日期：2003-04-08 00:00:00

abstract：:We have used computerized tomography (CT) to look for evidence of cerebral demyelination in children with progressive neurologic disorders. Fourteen patients with a clinical diagnosis of a demyelinating disorder were examined by CT, and five had CT findings suggesting cerebral demyelination. In two patients with a so-...

journal_title：Neurology

authors： Robertson WC Jr,Gomez MR,Reese DF,Okazaki H

更新日期：1977-09-01 00:00:00

abstract：OBJECTIVE:To assess the frequency of this finding in patients with minor stroke and TIAs compared to those with stroke mimics and to evaluate the level of agreement between examiners to detect an upgoing thumb sign. METHODS:We previously reported an upgoing thumb sign as a subtle clinical finding in patients with tran...

journal_title：Neurology

authors： Hachinski V,Alsubaie R,Azarpazhooh MR

更新日期：2017-07-25 00:00:00