Symptomatic dysferlin gene mutation carriers: characterization of two cases.

abstract：:A 47-year-old woman had myasthenia gravis with only moderate weakness and a consistently poor response to anticholinesterase medication. She was investigated with routine electrophysiologic studies and single-fiber electromyography. The studies showed a limited effect of anticholinesterase medication. There was a decr...

journal_title：Neurology

authors： Schwartz MS,Stålberg E

更新日期：1975-01-01 00:00:00

abstract：OBJECTIVE:To define potential pathogenic mitochondrial DNA (mtDNA) point mutations in a patient with myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. BACKGROUND:MERRF syndrome is typically associated with point mutations in the mtDNA tRNALys gene. METHODS:We performed morphologic, biochemical, and genetic ...

journal_title：Neurology

authors： Arenas J,Campos Y,Bornstein B,Ribacoba R,Martín MA,Rubio JC,Santorelli FM,Zeviani M,DiMauro S,Garesse R

更新日期：1999-01-15 00:00:00

abstract：:Patients with myotonic dystrophy often develop respiratory failure caused by alveolar hypoventilation. Abnormalities in the ventilatory response to hypoxia and hypercapnia may explain this phenomenon. Accordingly, hypoxic and hypercapnic responses were measured in seven patients with myotonic dystrophy who had only mi...

journal_title：Neurology

authors： Carroll JE,Zwillich CW,Weil JV

更新日期：1977-12-01 00:00:00

abstract：:In muscles with sustained voluntary contraction, EMG activity is transiently inhibited after transcranial magnetic stimulation. We recorded this postexcitatory silent period (SP) at 1.5 times individual stimulus threshold level from the first dorsal interosseus muscle in 65 neurologic patients aged 11 to 80 years. Whe...

journal_title：Neurology

authors： Haug BA,Kukowski B

更新日期：1994-05-01 00:00:00

abstract：BACKGROUND:Long-term treatment with valproate (VPA) or carbamazepine (CBZ) may induce reproductive endocrine disorders in patients with epilepsy. METHODS:Serum concentrations of reproductive hormones were studied in 17 women and 22 men with recently diagnosed epilepsy before they started either VPA or CBZ medication, ...

journal_title：Neurology

authors： Rättyä J,Pakarinen AJ,Knip M,Repo-Outakoski M,Myllylä VV,Isojärvi JI

更新日期：2001-08-14 00:00:00

abstract：OBJECTIVE:To investigate the risk factors of neutralizing antibody (NAB)-induced complete secondary treatment failure (cSTF) during long-term botulinum neurotoxin (BoNT) treatment in various neurologic indications. METHODS:This monocenter retrospective cohort study analyzed the data of 471 patients started on BoNT the...

journal_title：Neurology

authors： Walter U,Mühlenhoff C,Benecke R,Dressler D,Mix E,Alt J,Wittstock M,Dudesek A,Storch A,Kamm C

更新日期：2020-05-19 00:00:00

abstract：:Sphingosine 1-phosphate receptors (S1PRs) are G protein-coupled receptors expressed by many cell types, including immune and neural cells. These receptors are promising targets for immunomodulatory and possibly neuromodulatory therapies. Fingolimod (FTY720) is a sphingosine analog that, when phosphorylated, becomes a ...

journal_title：Neurology

authors： Soliven B,Miron V,Chun J

更新日期：2011-02-22 00:00:00

abstract：:A clinical procedure for determining contrast sensitivity was performed on patients with suspected sella area masses. The test consisted of a series of six plates, each containing a bar pattern of fixed sinusoidal spatial frequency in which contrast varies along the length of the bar. Patients with compressive lesions...

journal_title：Neurology

authors： Kupersmith MJ,Siegel IM,Carr RE

更新日期：1981-05-01 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 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：:Thirteen patients presented with brief, repetitive, stereotyped transient ischemic attacks, large artery atherostenoses or occlusions with impaired collateral flow to a cortical perfusion borderzone, and orthostatic hypotension (OH). OH was caused by diabetes mellitus, aging, and treatments for ischemic heart disease ...

journal_title：Neurology

authors： Dobkin BH

更新日期：1989-01-01 00:00:00

abstract：:We studied the scalp distribution of auditory event-related potentials (P300), using simultaneously a cephalic (linked ears) and a noncephalic (balanced sternovertebra) reference. The recordings with noncephalic reference showed that infrequent, attended auditory stimuli evoke a negative bitemporal component (N300) as...

journal_title：Neurology

authors： Neshige R,Lüders H

更新日期：1988-11-01 00:00:00

abstract：BACKGROUND:We evaluated the clinicoradiologic characteristics of patients with branch occlusive disease (BOD)-type intracranial atherosclerotic stroke (ICAS) compared with those of patients with non-BOD-type ICAS or with small artery disease (SAD). METHODS:We analyzed 201 consecutive patients with acute infarcts withi...

journal_title：Neurology

authors： Ryoo S,Park JH,Kim SJ,Kim GM,Chung CS,Lee KH,Kim JS,Bang OY

更新日期：2012-03-20 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：:Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are inherited peripheral neuropathies. In most cases these disorders are caused by either the duplication (in CMT1A) or the deletion (in HNPP) of a 1.5-megabase DNA fragment on chromosome 17p11.2, which cont...

journal_title：Neurology

authors： Young P,Stögbauer F,Wiebusch H,Löfgren A,Timmerman V,Van Broeckhoven C,Ringelstein EB,Assmann G,Funke H

更新日期：1998-03-01 00:00:00

abstract：:A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletio...

journal_title：Neurology

authors： Capellari S,Parchi P,Wolff BD,Campbell J,Atkinson R,Posey DM,Petersen RB,Gambetti P

更新日期：2002-11-26 00:00:00

abstract：OBJECTIVE:To evaluate patients with early HIV-cognitive motor complex (HIV-CMC) for possible regional cerebral blood flow (rCBF) abnormalities on perfusion MRI (pMRI). BACKGROUND:Nuclear medicine techniques have demonstrated global and focal cerebral perfusion abnormalities in patients with HIV dementia. Ultrafast pMR...

journal_title：Neurology

authors： Chang L,Ernst T,Leonido-Yee M,Speck O

更新日期：2000-01-25 00:00:00

abstract：:The effect of imipramine on the absorption of a single dose of levodopa was studied in male volunteers. By delaying gastric emptying and retarding delivery to intestinal absorptive sites, imipramine interfered with the absorption of levodopa. This action caused by the anticholinergic effect of imipramine. The retardat...

journal_title：Neurology

authors： Morgan JP,Rivera-Calimlim L,Messiha F,Sundaresan PR,Trabert N

更新日期：1975-11-01 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 investigate botulinum toxin (BTX) effects on central and peripheral motor excitability in writer's cramp. METHODS:Using transcranial magnetic stimulation over the motor cortex and brainstem and peripheral electrical stimulation, the authors investigated measures of motor cortical and peripheral motor exci...

journal_title：Neurology

authors： Boroojerdi B,Cohen LG,Hallett M

更新日期：2003-12-09 00:00:00

abstract：OBJECTIVE:To describe the clinical features and outcome of anti-NMDA receptor (NMDAR) encephalitis in patients ≥45 years old. METHOD:Observational cohort study. RESULTS:In a cohort of 661 patients with anti-NMDAR encephalitis, we identified 31 patients ≥45 years old. Compared with younger adults (18-44 years), older ...

journal_title：Neurology

authors： Titulaer MJ,McCracken L,Gabilondo I,Iizuka T,Kawachi I,Bataller L,Torrents A,Rosenfeld MR,Balice-Gordon R,Graus F,Dalmau J

更新日期：2013-09-17 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：OBJECTIVE:Parkinson disease (PD), a devastating neurodegenerative disorder, affects motor abilities and cognition as well. It is not clear whether the proapoptotic protein, Bid, is involved in tumor necrosis factor death receptor I (TNFRI)-mediated destructive signal transduction pathways such as cell dysfunction or ne...

journal_title：Neurology

authors： Jiang H,He P,Adler CH,Shill H,Beach TG,Li R,Shen Y

更新日期：2012-10-23 00:00:00

abstract：BACKGROUND:The prognostic value of the biochemical changes seen with proton MR spectroscopy (1H MRS) in ischemic stroke was examined. Acute diffusion-weighted imaging (DWI) was used to identify regions of ischemia for 1H MRS voxel localization. METHODS:Nineteen patients had 36 1H MRS studies, 13 patients acutely (mean...

journal_title：Neurology

authors： Parsons MW,Li T,Barber PA,Yang Q,Darby DG,Desmond PM,Gerraty RP,Tress BM,Davis SM

更新日期：2000-08-22 00:00:00

abstract：:Hippocampal sulcal cavities are usually considered incidental findings on brain MRI. In a group of 92 elderly volunteers, the authors graded the number and size of hippocampal sulcal cavities with brain MRI to obtain a cavity score. Cavity scores increased with age, and were higher in subjects carrying the APOE epsilo...

journal_title：Neurology

authors： Barboriak DP,Doraiswamy PM,Krishnan KR,Vidyarthi S,Sylvester J,Charles HC

更新日期：2000-06-13 00:00:00

abstract：:Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is still unclear. We evaluated three SNE pedigrees (two singleton cases a...

journal_title：Neurology

authors： Shoffner JM,Fernhoff PM,Krawiecki NS,Caplan DB,Holt PJ,Koontz DA,Takei Y,Newman NJ,Ortiz RG,Polak M

更新日期：1992-11-01 00:00:00

abstract：OBJECTIVE:To update the 1997 American Academy of Neurology (AAN) practice parameter regarding sports concussion, focusing on 4 questions: 1) What factors increase/decrease concussion risk? 2) What diagnostic tools identify those with concussion and those at increased risk for severe/prolonged early impairments, neurolo...

journal_title：Neurology

authors： Giza CC,Kutcher JS,Ashwal S,Barth J,Getchius TS,Gioia GA,Gronseth GS,Guskiewicz K,Mandel S,Manley G,McKeag DB,Thurman DJ,Zafonte R

更新日期：2013-06-11 00:00:00

abstract：BACKGROUND:Although hospital-outcome relationships have been explored for a variety of procedures and interventions, little is known about the association between annual stroke admission volumes and stroke mortality. Our aim was to determine whether facility type and hospital volume was associated with stroke mortality...

journal_title：Neurology

authors： Saposnik G,Baibergenova A,O'Donnell M,Hill MD,Kapral MK,Hachinski V,Stroke Outcome Research Canada (SORCan) Working Group.

更新日期：2007-09-11 00:00:00

abstract：:The authors studied presymptomatic individuals with the Huntington disease (HD) mutation to determine whether cortical thinning was present. They found thinning that was regionally selective, semi-independent of striatal volume loss, and correlated with cognitive performance. Early, extensive cortical involvement occu...

journal_title：Neurology

authors： Rosas HD,Hevelone ND,Zaleta AK,Greve DN,Salat DH,Fischl B

更新日期：2005-09-13 00:00:00

abstract：OBJECTIVE:To evaluate the effectiveness of opicapone as add-on to levodopa and the effects of switching from entacapone over 1 year of treatment in patients with fluctuating Parkinson disease. METHODS:After completion of a placebo- and entacapone-controlled double-blind study of opicapone (5, 25, or 50 mg), 495 patien...

journal_title：Neurology

authors： Ferreira JJ,Lees AJ,Poewe W,Rascol O,Rocha JF,Keller B,Soares-da-Silva P

更新日期：2018-05-22 00:00:00