Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome.

abstract：:We report the cases of 5 patients from 2 sibships with the "adult" or chronic form of GM2 gangliosidosis and 2 patients from another sibship with the juvenile form. We demonstrated hexosaminidase A deficiency in all cases but in 1 sibship the enzymatic profile was identical to that in Tay-Sachs disease, whereas in the...

journal_title：Neurology

authors： Specola N,Vanier MT,Goutières F,Mikol J,Aicardi J

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVE:To examine associations between aggregate genetic risk and Alzheimer disease (AD) markers in stages preceding the clinical symptoms of dementia using data from 2 large observational cohort studies. METHODS:We computed polygenic risk scores (PGRS) using summary statistics from the International Genomics of Al...

journal_title：Neurology

authors： Mormino EC,Sperling RA,Holmes AJ,Buckner RL,De Jager PL,Smoller JW,Sabuncu MR,Alzheimer's Disease Neuroimaging Initiative.

更新日期：2016-08-02 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：BACKGROUND:UK veterans who were deployed to the Gulf in 1990 to 1991 reported higher prevalence of neuromuscular symptoms. OBJECTIVE:To investigate whether these Gulf War-related symptoms were associated with objective evidence of neuromuscular dysfunction. METHODS:Forty-nine Gulf War veterans with more than four neu...

journal_title：Neurology

authors： Sharief MK,Priddin J,Delamont RS,Unwin C,Rose MR,David A,Wessely S

更新日期：2002-11-26 00:00:00

abstract：:A patient received an overdose of intravascular contrast medium and experienced protracted seizures associated with radiographic evidence of prolonged retention of the contrast agent in the cerebral cortex, basal ganglia, and thalami. This is only the second report and the first survivor of a similar neurologic syndro...

journal_title：Neurology

authors： May EF,Ling GS,Geyer CA,Jabbari B

更新日期：1993-04-01 00:00:00

abstract：OBJECTIVE:We examined the incidence of mild cognitive impairment (MCI) and its potential vascular risk factors in a prospective population-based study. METHODS:An age-stratified random population-based cohort (baseline n = 1,982), followed for up to 4 years, was annually assessed for cognitive and everyday functioning...

journal_title：Neurology

authors： Ganguli M,Fu B,Snitz BE,Hughes TF,Chang CC

更新日期：2013-06-04 00:00:00

abstract：OBJECTIVE:To determine black-white differences in 1-year recurrent stroke and 30-day case fatality after a recurrent stroke in older US adults. METHODS:We conducted a retrospective cohort study using a 5% random sample of Medicare beneficiaries with fee-for-service health insurance coverage who were hospitalized for i...

journal_title：Neurology

authors： Albright KC,Huang L,Blackburn J,Howard G,Mullen M,Bittner V,Muntner P,Howard V

更新日期：2018-11-06 00:00:00

abstract：OBJECTIVE:To test the hypothesis that concussion-related brain alterations seen at symptomatic injury and medical clearance to return to play (RTP) will have dissipated by 1 year after RTP. METHODS:For this observational study, 24 athletes with concussion were scanned longitudinally within 1 week after injury, at RTP,...

journal_title：Neurology

authors： Churchill NW,Hutchison MG,Graham SJ,Schweizer TA

更新日期：2019-11-19 00:00:00

abstract：BACKGROUND:A large proportion of survivors of traumatic brain injury (TBI) have persistent cognitive impairments, the profile of which does not always correspond to the size and location of injuries. One possible explanation could be that TBI-induced damage extends beyond obvious lesion sites to affect remote brain net...

journal_title：Neurology

authors： Kasahara M,Menon DK,Salmond CH,Outtrim JG,Taylor Tavares JV,Carpenter TA,Pickard JD,Sahakian BJ,Stamatakis EA

更新日期：2010-07-13 00:00:00

abstract：OBJECTIVE:To characterize disease severity and distribution of disability in pediatric-onset multiple sclerosis (POMS) and to develop an optimized modeling scale for measuring disability, we performed a multicenter retrospective analysis of disability scores in 873 persons with POMS over time and compared this to previ...

journal_title：Neurology

authors： Santoro JD,Waltz M,Aaen G,Belman A,Benson L,Gorman M,Goyal MS,Graves JS,Harris Y,Krupp L,Lotze T,Mar S,Moodley M,Ness J,Rensel M,Rodriguez M,Schreiner T,Tillema JM,Waubant E,Weinstock-Guttman B,Hurtubise BF,Roal

更新日期：2020-09-29 00:00:00

abstract：:Disturbed deglutition is common in diseases of the brainstem and lower cranial nerves, but little is known about the mechanisms involved. We studied a 49-year-old man with symptoms of syringomyelia and syringobulbia lasting 7 years. Esophageal motility studies showed inability to initiate swallowing, esophageal hypomo...

journal_title：Neurology

authors： Bleck TP,Shannon KM

更新日期：1984-11-01 00:00:00

abstract：:The association of APOE genotypes with cerebral microbleeds (CMBs) was examined on the basis of the location of CMBs in 414 patients who were admitted primarily because of stroke. With respect to possession of the epsilon2 or epsilon4 allele, the adjusted odds ratio was 1.94 (1.05 to 3.58) for lobar CMBs but 1.21 (0.6...

journal_title：Neurology

authors： Kim M,Bae HJ,Lee J,Kang L,Lee S,Kim S,Lee JE,Lee KM,Yoon BW,Kwon O,Koo JS,Kim BK

更新日期：2005-11-08 00:00:00

abstract：:We reviewed the prognostic significance of preoperative EEG findings in 25 patients who underwent functional hemispherectomy. Bilateral independent epileptogenic foci, found in five patients, generally indicate a less satisfactory outcome, with only three of the five patients becoming seizure free following hemisphere...

journal_title：Neurology

authors： Smith SJ,Andermann F,Villemure JG,Rasmussen TB,Quesney LF

更新日期：1991-11-01 00:00:00

abstract：:To evaluate when it is possible to discontinue anticonvulsant treatment in children with cryptogenic partial epilepsy, the authors studied 89 epileptic children divided into two groups: Group A, 45 children whose therapy was discontinued after 1 year from the last seizure; and Group B, 44 children whose therapy was st...

journal_title：Neurology

authors： Verrotti A,Morresi S,Basciani F,Cutarella R,Morgese G,Chiarelli F

更新日期：2000-11-14 00:00:00

abstract：OBJECTIVE:In families with autosomal dominant partial epilepsy with auditory features (ADPEAF) with mutations in the LGI1 gene, we evaluated clustering of mutations within the gene and associations of penetrance and phenotypic features with mutation location and predicted effect (truncation or missense). METHODS:We ab...

journal_title：Neurology

authors： Ho YY,Ionita-Laza I,Ottman R

更新日期：2012-02-21 00:00:00

abstract：:Single motor unit firing rates were measured from the first dorsal interosseous muscle (FDI) of normal subjects and patients with partial denervation of that muscle. Motor unit discharges were recorded at various levels of voluntary, stationary, isometric contraction of the FDI. The mean increase in firing rate associ...

journal_title：Neurology

authors： Miller RG,Sherratt M

更新日期：1978-12-01 00:00:00

abstract：OBJECTIVES:The Stroke-Thrombolytic Predictive Instrument (Stroke-TPI) predicts the probability of good and bad outcomes with and without recombinant tissue plasminogen activator (rtPA). We sought to rebuild and externally validate a simpler Stroke-TPI to support implementation in routine clinical care. METHODS:Using t...

journal_title：Neurology

authors： Kent DM,Ruthazer R,Decker C,Jones PG,Saver JL,Bluhmki E,Spertus JA

更新日期：2015-09-15 00:00:00

abstract：BACKGROUND:Structural abnormalities were detected in bilateral primary sensorimotor areas in writer's cramp. Evidence in other primary dystonia, including blepharospasm and cervical dystonia, suggest that structural abnormalities may be observed in other brain areas such as the cerebellum in writer's cramp. OBJECTIVE:...

journal_title：Neurology

authors： Delmaire C,Vidailhet M,Elbaz A,Bourdain F,Bleton JP,Sangla S,Meunier S,Terrier A,Lehéricy S

更新日期：2007-07-24 00:00:00

abstract：:Parenchymatous intracerebral hemorrhage (ICH) is a serious, infrequent complication of thrombolytic therapy for acute myocardial infarction. We studied the clinical and radiologic features, manner of presentation, associated factors, and temporal course in 23 patients with ICH associated with 150 mg or 100 mg recombin...

journal_title：Neurology

authors： Sloan MA,Price TR,Petito CK,Randall AM,Solomon RE,Terrin ML,Gore J,Collen D,Kleiman N,Feit F

更新日期：1995-04-01 00:00:00

abstract：OBJECTIVE:To evaluate the efficacy and safety of eptinezumab, a humanized anti-calcitonin gene-related peptide monoclonal antibody, in the preventive treatment of chronic migraine (CM). METHODS:The Prevention of Migraine via Intravenous ALD403 Safety and Efficacy-2 (PROMISE-2) study was a phase 3, multicenter, randomi...

journal_title：Neurology

authors： Lipton RB,Goadsby PJ,Smith J,Schaeffler BA,Biondi DM,Hirman J,Pederson S,Allan B,Cady R

更新日期：2020-03-31 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：BACKGROUND:While stable xenon CT (Xe-CT) cerebral blood flow (CBF) is an accepted standard for quantitative assessment of cerebral hemodynamics, the accuracy of magnetic resonance perfusion-weighted imaging (PWI-MRI) is unclear. The Improved PWI Methodology in Acute Clinical Stroke Study compares PWI findings with Xe-C...

journal_title：Neurology

authors： Olivot JM,Mlynash M,Zaharchuk G,Straka M,Bammer R,Schwartz N,Lansberg MG,Moseley ME,Albers GW

更新日期：2009-03-31 00:00:00

abstract：:Cytolytic T lymphocyte precursors (CTL-p) and natural killer precursors (NK-p) in the CSF of 15 MS patients and 11 patients with other neurologic disorders (OND) were quantitatively assessed, using a T-lymphocyte microculture system that allows clonal expansion of all human T cells. CSF CTL-p and NK-p frequencies were...

journal_title：Neurology

authors： Weber WE,Buurman WA,Vandermeeren MM,Medaer RH,Raus JC

更新日期：1987-03-01 00:00:00

abstract：:The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene in a family in which a 10-year-old girl had a severe neurodegenerative disorder, her elder sister had died of Leigh syndrome (LS), and a maternal uncle had a spinocerebellar disorder. Biochemical studies disclosed a reduced rate of ATP synthes...

journal_title：Neurology

authors： Carrozzo R,Tessa A,Vázquez-Memije ME,Piemonte F,Patrono C,Malandrini A,Dionisi-Vici C,Vilarinho L,Villanova M,Schägger H,Federico A,Bertini E,Santorelli FM

更新日期：2001-03-13 00:00:00

abstract：:Inclusion-body myositis (IBM) is an inflammatory muscle disease that has proven resistant to treatment. Tumor necrosis factor molecules have been detected in muscle biopsies from patients with IBM. Etanercept is a TNFalpha receptor fusion protein that binds and inactivates tumor necrosis factor. Nine patients were tre...

journal_title：Neurology

authors： Barohn RJ,Herbelin L,Kissel JT,King W,McVey AL,Saperstein DS,Mendell JR

更新日期：2006-01-24 00:00:00

abstract：OBJECTIVE:To evaluate the frequency and types of change in "self" seen in frontotemporal dementia (FTD) and to determine the relative involvement of the nondominant and dominant frontal and temporal brain regions in FTD patients with or without changes in a sense of self using neuropsychology tests and neuroimaging. B...

journal_title：Neurology

authors： Miller BL,Seeley WW,Mychack P,Rosen HJ,Mena I,Boone K

更新日期：2001-09-11 00:00:00

abstract：OBJECTIVE:Cerebral cavernous malformations (CCM) occur in familial and sporadic forms that cannot be distinguished by phenotype. Mutations in Krit1, a gene located at the CCM1 locus on chromosome 7q21, account for the majority of familial CCM cases. The authors investigated the role that mutations at the CCM1 locus pla...

journal_title：Neurology

authors： Reich P,Winkler J,Straube A,Steiger HJ,Peraud A

更新日期：2003-04-08 00:00:00

abstract：BACKGROUND:To date, there is no accepted clinical diagnostic test for Parkinson disease (PD) that is based on biochemical analysis of blood or CSF. The discovery of mutations in the SNCA gene encoding α-synuclein in familial parkinsonism and the accumulation of α-synuclein in the PD brain suggested a critical role for ...

journal_title：Neurology

authors： Tokuda T,Qureshi MM,Ardah MT,Varghese S,Shehab SA,Kasai T,Ishigami N,Tamaoka A,Nakagawa M,El-Agnaf OM

更新日期：2010-11-16 00:00:00

abstract：:Many new treatments under development for Alzheimer disease (AD) will be disease-modifying rather than symptomatic. Clinical evaluation of these treatments will require primary and secondary prevention trials. We describe some of the methodologic challenges in designing primary prevention trials for AD and illustrate ...

journal_title：Neurology

authors： Green RC,DeKosky ST

更新日期：2006-11-14 00:00:00

abstract：BACKGROUND:Hematopoietic stem cell transplantation (HSCT) may slow the progression of Krabbe disease (KD) if performed early in the disease. The authors' studies indicate that more than 90% of patients with KD have severe abnormalities in peripheral nerve conduction. OBJECTIVE:To assess the effect of HSCT on nerve con...

journal_title：Neurology

authors： Siddiqi ZA,Sanders DB,Massey JM

更新日期：2006-07-25 00:00:00