A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

abstract：:We analyzed ictal features of psychogenic seizures using video-EEG recordings in 47 patients and reviewed the medical records to determine if patients received antiepileptic drug therapy and whether they were treated pharmacologically for status epilepticus. Unresponsive behavior in the absence of motor manifestations...

journal_title：Neurology

authors： Leis AA,Ross MA,Summers AK

更新日期：1992-01-01 00:00:00

abstract：:A number of high-quality studies have recently been published that examine the association between neuropathic pain and health-related quality of life (HRQoL). The current review identified 52 such studies in patients with six neuropathic pain conditions associated with lesions of either the peripheral (postsurgical n...

journal_title：Neurology

authors： Jensen MP,Chodroff MJ,Dworkin RH

更新日期：2007-04-10 00:00:00

abstract：BACKGROUND:Primary angiitis of the CNS (PACNS) is a diagnostically challenging disorder. In patients whose diagnosis is ascertained solely by cerebral angiography without histologic verification, a benign monophasic clinical course with favorable response to a brief course of immunosuppressive therapy is often reported...

journal_title：Neurology

authors： Woolfenden AR,Tong DC,Marks MP,Ali AO,Albers GW

更新日期：1998-07-01 00:00:00

abstract：:The authors describe diffusion-weighted imaging (DWI) and magnetic resonance spectroscopy (MRS) changes in the hippocampus within 48 hours of acute symptomatic seizures or status epilepticus in 12 patients. DWI showed increased signal and a decreased apparent diffusion coefficient (ADC) in all patients, with correspon...

journal_title：Neurology

authors： Parmar H,Lim SH,Tan NC,Lim CC

更新日期：2006-06-13 00:00:00

abstract：:We studied four patients with neurologic disorders of the lumbosacral plexus. Except for location of symptoms, the disorder confirmed to criteria established for the clinical diagnosis of brachial plexus neuritis. Acute onset of pain in one or both legs was followed by weakness, loss of stretch reflexes, and sometimes...

journal_title：Neurology

authors： Sander JE,Sharp FR

更新日期：1981-04-01 00:00:00

abstract：:We reviewed the outcome (developmental, neurologic, and seizure) and prognostic factors of 57 cases of infantile spasms (17 cryptogenic, 40 symptomatic). The mean developmental score of the cryptogenic group (71.2 +/- 24.2) was significantly higher than that of the symptomatic group (48.4 +/- 24.5), as assessed by the...

journal_title：Neurology

authors： Koo B,Hwang PA,Logan WJ

更新日期：1993-11-01 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：BACKGROUND:The incidence of acquired demyelination of the CNS (acquired demyelinating syndromes [ADS]) in children is unknown. It is important that physicians recognize the features of ADS to facilitate care and to appreciate the future risk of multiple sclerosis (MS). OBJECTIVE:To determine the incidence, clinical fe...

journal_title：Neurology

authors： Banwell B,Kennedy J,Sadovnick D,Arnold DL,Magalhaes S,Wambera K,Connolly MB,Yager J,Mah JK,Shah N,Sebire G,Meaney B,Dilenge ME,Lortie A,Whiting S,Doja A,Levin S,MacDonald EA,Meek D,Wood E,Lowry N,Buckley D,Yim

更新日期：2009-01-20 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：: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: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：OBJECTIVE:To investigate whether repetitive transcranial magnetic stimulation (rTMS) can modify spasticity. METHODS:We used high-frequency (5 Hz) and low-frequency (1 Hz) rTMS protocols in 19 remitting patients with relapsing-remitting multiple sclerosis and lower limb spasticity. RESULTS:A single session of 1 Hz rTM...

journal_title：Neurology

authors： Centonze D,Koch G,Versace V,Mori F,Rossi S,Brusa L,Grossi K,Torelli F,Prosperetti C,Cervellino A,Marfia GA,Stanzione P,Marciani MG,Boffa L,Bernardi G

更新日期：2007-03-27 00:00:00

abstract：:Ten patients with refractory temporal lobe epilepsy performed a word-position association learning task every 24 hours during video EEG monitoring. On 55 occasions recall performance was tested 30 minutes and 24 hours after the initial learning phase. Patients with left- but not right-sided temporal lobe epilepsy exhi...

journal_title：Neurology

authors： Jokeit H,Daamen M,Zang H,Janszky J,Ebner A

更新日期：2001-07-10 00:00:00

abstract：OBJECTIVE:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy caused by mutations of the Notch3 gene. The disease is characterized by T2-hyperintense lesions (subcortical white matter lesions), T1-hypointense lesions (lacunar lesions), and T2...

journal_title：Neurology

authors： Viswanathan A,Gschwendtner A,Guichard JP,Buffon F,Cumurciuc R,O'Sullivan M,Holtmannspötter M,Pachai C,Bousser MG,Dichgans M,Chabriat H

更新日期：2007-07-10 00:00:00

abstract：:Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. We studied a 54-year-old man with lubag and two of his female first cousins. Genetic typing was carried out using X chromosome markers. Fluorodopa PET was perfo...

journal_title：Neurology

authors： Waters CH,Takahashi H,Wilhelmsen KC,Shubin R,Snow BJ,Nygaard TG,Moskowitz CB,Fahn S,Calne DB

更新日期：1993-08-01 00:00:00

abstract：OBJECTIVE:The presence of cranial autonomic symptoms often leads to a misdiagnosis of "sinus headache" in adult migraineurs, leading to unnecessary treatments and delaying appropriate migraine therapy. In this study, we examined the frequency of cranial autonomic symptoms in pediatric/adolescent patients with migraine....

journal_title：Neurology

authors： Gelfand AA,Reider AC,Goadsby PJ

更新日期：2013-07-30 00:00:00

abstract：OBJECTIVE:With diagnostic criteria alterations, increased MRI availability, and awareness of therapies, temporal changes in incidence and prevalence rates may occur, with an increase in the proportion of mildly affected persons diagnosed with multiple sclerosis (MS). The authors assessed temporal trends in the delay fr...

journal_title：Neurology

authors： Marrie RA,Cutter G,Tyry T,Hadjimichael O,Campagnolo D,Vollmer T

更新日期：2005-10-11 00:00:00

abstract：:The authors report results of SPECT cerebral perfusion studies in two patients with familial dysautonomia (FD) during dysautonomic crises and when clinically stable. SPECT imaging studies used 99mTc ethylene cysteine dimer. During dysautonomic crises, regions in the temporoparietal and frontal lobes had increased upta...

journal_title：Neurology

authors： Axelrod FB,Zupanc M,Hilz MJ,Kramer EL

更新日期：2000-07-12 00:00:00

abstract：:Cytokines such as interleukin-1 and tumor necrosis factor are involved in the triggering of the immune response, induction of acute inflammatory events, and transition to, or persistence of, chronic inflammation. The action of proinflammatory cytokines is regulated by their receptor expression, downregulation and shed...

journal_title：Neurology

authors： Burger D,Dayer JM

更新日期：1995-06-01 00:00:00

abstract：:The author describes a distinct clinical syndrome in six patients with autonomic failure who manifested habitual, voluntary, transiently suppressible, yet irresistible leg movements occurring only in the sitting position. Keeping the legs still brought on vague symptoms of fatigue, lightheadedness, or apprehension. Re...

journal_title：Neurology

authors： Cheshire WP Jr

更新日期：2000-12-26 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is a neurodegenerative disease associated with marked impairments in health-related quality of life (HRQoL). Although standard clinical end points such as the Expanded Disability Status Scale and annualized relapse rate remain useful in assessing MS activity and severity, these measur...

journal_title：Neurology

authors： Miller D,Rudick RA,Hutchinson M

更新日期：2010-04-27 00:00:00

abstract：:Glucocorticoid therapy slows the progression of Duchenne muscular dystrophy. In muscle cultures, the addition of the glucocorticoid methylprednisolone increases myogenesis in most normal mixed and clonal cultures. Conversely, in some normal clonal and most dystrophic cultures, methylprednisolone inhibits fusion. Howev...

journal_title：Neurology

authors： Hardiman O,Sklar RM,Brown RH Jr

更新日期：1993-02-01 00:00:00

abstract：:We reviewed the clinical and laboratory features of 81 patients who had trigeminal sensory neuropathy (TSN) and a connective tissue disease (CTD). The neuropathy developed before the symptoms of CTD in 6/81 patients (7%), and in 38/81 patients (47%) TSN and CTD were diagnosed concurrently. The most frequently associat...

journal_title：Neurology

authors： Hagen NA,Stevens JC,Michet CJ Jr

更新日期：1990-06-01 00:00:00

abstract：:We report imaging and clinical findings of leukoencephalopathy occurring after levamisole. The lesions were hypoattenuating on CT and appeared as multifocal oval or elliptical foci in the white matter or along the subependymal veins on MRI. Most lesions resolve after prompt withdrawal of levamisole. Detailed history t...

journal_title：Neurology

authors： Liu HM,Hsieh WJ,Yang CC,Wu VC,Wu KD

更新日期：2006-09-26 00:00:00

abstract：OBJECTIVE:To investigate the feasibility and clinical utility of using passive electrocorticography (ECoG) for online spatial-temporal functional mapping (STFM) of language cortex in patients being monitored for epilepsy surgery. METHODS:We developed and tested an online system that exploits ECoG's temporal resolution...

journal_title：Neurology

authors： Wang Y,Fifer MS,Flinker A,Korzeniewska A,Cervenka MC,Anderson WS,Boatman-Reich DF,Crone NE

更新日期：2016-03-29 00:00:00

abstract：:Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI a...

journal_title：Neurology

authors： Medori R,Montagna P,Tritschler HJ,LeBlanc A,Cortelli P,Tinuper P,Lugaresi E,Gambetti P

更新日期：1992-03-01 00:00:00

abstract：:We describe a 34-year-old man from southern Florida with a history of intravenous drug use, dually infected with human immunodeficiency virus type 1 (HIV-1) and human T-lymphotropic virus type II (HTLV-II), who developed a myelopathy clinically indistinguishable from HTLV-I-associated myelopathy/tropical spastic parap...

journal_title：Neurology

authors： Berger JR,Svenningsson A,Raffanti S,Resnick L

更新日期：1991-01-01 00:00:00

abstract：:We prospectively evaluated 84 consecutive adult patients with chronic liver disease before and after liver transplantation to define the type and frequency of post-transplant neurologic complications, and to assess possible pretransplant and operative variables associated with in-hospital CNS complications. There were...

journal_title：Neurology

authors： Pujol A,Graus F,Rimola A,Beltrán J,Garcia-Valdecasas JC,Navasa M,Grande L,Galofré J,Visa J,Rodés J

更新日期：1994-07-01 00:00:00

abstract：:The association of the STH gene polymorphism with Alzheimer disease (AD) is debated. In the analysis of two genetically and diagnostically distinct groups of Alzheimer patients from the USA and Italy, the authors did not find an association with the STH polymorphism. However, the APOE-4-associated risk of AD greatly i...

journal_title：Neurology

authors： Seripa D,Matera MG,D'Andrea RP,Gravina C,Masullo C,Daniele A,Bizzarro A,Rinaldi M,Antuono P,Wekstein DR,Dal Forno G,Fazio VM

更新日期：2004-05-11 00:00:00

abstract：:An HIV-1-infected patient with progressive multifocal leukoencephalopathy presented clinical deterioration and contrast-enhancing lesions on brain nuclear MR after the initiation of highly active antiretroviral therapy (HAART). Brain biopsy identified an inflammatory reaction compatible with immune reconstitution infl...

journal_title：Neurology

authors： Martinez JV,Mazziotti JV,Efron ED,Bonardo P,Jordan R,Sevlever G,Martinez M,Verbanaz SC,Salazar ZS,Pardal MF,Reisin R

更新日期：2006-11-14 00:00:00