Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.

abstract：:Described are the clinical, EEG, MR, and genetic characteristics of 106 members of a family with autosomal dominant temporal lobe epilepsy (TLE) and febrile seizures (FS), with 22 affected individuals. Eleven patients had a history of FS, and 10 patients had TLE. EEG showed epileptic activity in five. None had hippoca...

journal_title：Neurology

authors： Depondt C,Van Paesschen W,Matthijs G,Legius E,Martens K,Demaerel P,Wilms G

更新日期：2002-05-14 00:00:00

abstract：:We conducted a randomized double-blind comparison of three doses of the novel antiepileptic drug (AED) topiramate (200, 400, and 600 mg/day) and placebo as adjunctive therapy in patients with refractory partial onset epilepsy receiving one or two other AEDs at therapeutic concentrations. A total of 181 patients comple...

journal_title：Neurology

authors： Faught E,Wilder BJ,Ramsay RE,Reife RA,Kramer LD,Pledger GW,Karim RM

更新日期：1996-06-01 00:00:00

abstract：:Despite a paucity of controlled data, stereotactic pallidotomy is increasingly used for the treatment of advanced Parkinson's disease (PD). To study the efficacy of the procedure on the cardinal PD features of rigidity, tremor, bradykinesia, and postural instability, we blindly rated randomized videos of 34 patients r...

journal_title：Neurology

authors： Ondo WG,Jankovic J,Lai EC,Sankhla C,Khan M,Ben-Arie L,Schwartz K,Grossman RG,Krauss JK

更新日期：1998-01-01 00:00:00

abstract：:The objective of our study was to assess the 5-year risk of and prognostic factors for the development of clinically definite multiple sclerosis (CDMS) following optic neuritis. In a prospective cohort study design, 388 patients, who did not have probable or definite MS at study entry enrolled in the Optic Neuritis Tr...

journal_title：Neurology

authors： Optic Neuritis Study Group.

更新日期：1997-11-01 00:00:00

abstract：:First-degree relatives of narcoleptic subjects (probands) may have sleep pathology related to the transmission of the disorder through their family members. The authors examined four groups: probands (n = 96), first-degree relative (n = 337), environmental reference (n = 85), and general population (n = 6,694) groups....

journal_title：Neurology

authors： Ohayon MM,Okun ML

更新日期：2006-08-22 00:00:00

abstract：BACKGROUND:About 20% of patients with familial hemiplegic migraine (FHM) develop progressive cerebellar signs. Genetic studies have established an association with mutations in the CACNA1A gene. However, the mechanisms underlying cerebellar involvement are largely unknown. OBJECTIVE:To use proton MR spectroscopy (1H-M...

journal_title：Neurology

authors： Dichgans M,Herzog J,Freilinger T,Wilke M,Auer DP

更新日期：2005-02-22 00:00:00

abstract：OBJECTIVE:To assess frontal lobe functions of subjects with age-associated memory impairment (AAMI) and to examine whether performance on neuropsychological tests is correlated with the volume of the frontal lobes in magnetic resonance imaging. DESIGN:Cross-sectional two-group comparison. SETTING:The Memory Research ...

journal_title：Neurology

authors： Hänninen T,Hallikainen M,Koivisto K,Partanen K,Laakso MP,Riekkinen PJ Sr,Soininen H

更新日期：1997-01-01 00:00:00

abstract：OBJECTIVE:To identify modifying factors that preserve functional independence among individuals at high dementia risk. METHODS:Health and Retirement Study participants aged 65 years or older without baseline activities of daily living (ADL) limitations (n = 4,922) were interviewed biennially for up to 12 years. Dement...

journal_title：Neurology

authors： Rist PM,Capistrant BD,Wu Q,Marden JR,Glymour MM

更新日期：2014-04-29 00:00:00

abstract：:Lymphocytic meningoradiculitis (Bannwarth's syndrome) is a radicular neuralgia associated with a chronic lymphocytic pleocytosis in cerebrospinal fluid and frequently with unilateral or bilateral peripheral facial weakness. Most reported cases have occurred during the summer among adults living in central Europe. Lymp...

journal_title：Neurology

authors： Donaldson JO,Lewis RA

更新日期：1983-11-01 00:00:00

abstract：OBJECTIVE:To discuss the indications and timing for resective surgery in patients with Sturge-Weber syndrome (SWS) and medication-resistant epilepsy. BACKGROUND:SWS that causes epilepsy severe enough to merit surgery is rare. Because of the variable natural history of the disease, it is difficult to establish clear-cu...

journal_title：Neurology

authors： Arzimanoglou AA,Andermann F,Aicardi J,Sainte-Rose C,Beaulieu MA,Villemure JG,Olivier A,Rasmussen T

更新日期：2000-11-28 00:00:00

abstract：:We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfe...

journal_title：Neurology

authors： Nisipeanu P,Inzelberg R,Blumen SC,Carasso RL,Hattori N,Matsumine H,Mizuno Y

更新日期：1999-10-22 00:00:00

abstract：:Guillain-Barré syndrome (GBS) appeared in four patients 1 to 2 weeks after epidural anesthesia. In all patients, clinical diagnosis was confirmed by CSF findings and nerve conduction velocity studies. Although epidural anesthesia has not been listed as an antecedent event in GBS, evidence for the relationship has been...

journal_title：Neurology

authors： Steiner I,Argov Z,Cahan C,Abramsky O

更新日期：1985-10-01 00:00:00

abstract：OBJECTIVE:To determine the incidence of multiple sclerosis (MS) in a longitudinal surveillance over 35 years and to estimate the prevalence rate in Saskatoon, Saskatchewan, on January 1, 2005. METHODS:A population-based registry was established in 1969, and identification of cases continued to 2005, from medical recor...

journal_title：Neurology

authors： Hader WJ,Yee IM

更新日期：2007-09-18 00:00:00

abstract：BACKGROUND:Krabbe disease (globoid cell leukodystrophy [GLD]) is an autosomal recessive lysosomal disorder affecting the central and peripheral nervous system. The authors performed MRS to characterize metabolic alterations and their regional variation in brain tissue in GLD in vivo. METHODS:Abnormalities of cerebral ...

journal_title：Neurology

authors： Brockmann K,Dechent P,Wilken B,Rusch O,Frahm J,Hanefeld F

更新日期：2003-03-11 00:00:00

abstract：:The prevalence of spontaneous lingual-facial-buccal movements was determined in 661 patients between the ages of 50 and 79 without neuroleptic exposure or known CNS disease. The prevalence was 0.8% between ages 50 and 59, 6% between ages 60 and 69, and 7.8% between ages 70 and 79. ...

journal_title：Neurology

authors： Klawans HL,Barr A

更新日期：1982-05-01 00:00:00

abstract：OBJECTIVE:To evaluate the validity of data derived from magnetic source imaging (MSI) regarding cerebral dominance for language in patients with intractable seizure disorder. METHOD:The authors performed functional imaging of the receptive language cortex using a whole-head neuromagnetometer in 26 consecutive epilepsy...

journal_title：Neurology

authors： Breier JI,Simos PG,Zouridakis G,Wheless JW,Willmore LJ,Constantinou JE,Maggio WW,Papanicolaou AC

更新日期：1999-09-22 00:00:00

abstract：OBJECTIVE:To compare neurofilament light (NfL) and tau as blood-based biomarkers for acute sports-related concussion (SRC) and determine whether their concentrations at different time points after the injury are associated with prolonged time to return to play (RTP). METHODS:A total of 288 professional hockey players ...

journal_title：Neurology

authors： Shahim P,Tegner Y,Marklund N,Blennow K,Zetterberg H

更新日期：2018-05-15 00:00:00

abstract：OBJECTIVE:To estimate the prevalence of childhood ataxia resulting from both genetic and acquired causes. METHODS:A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) statement. Five databases were searched for articles reporting a frequency measur...

journal_title：Neurology

authors： Musselman KE,Stoyanov CT,Marasigan R,Jenkins ME,Konczak J,Morton SM,Bastian AJ

更新日期：2014-01-07 00:00:00

abstract：OBJECTIVE:To test the hypothesis that physical activity modifies the association between white matter hyperintensity (WMH) burden and motor function in healthy older persons without dementia. METHODS:Total daily activity (exercise and nonexercise physical activity) was measured for up to 11 days with actigraphy (Actic...

journal_title：Neurology

authors： Fleischman DA,Yang J,Arfanakis K,Arvanitakis Z,Leurgans SE,Turner AD,Barnes LL,Bennett DA,Buchman AS

更新日期：2015-03-31 00:00:00

abstract：:MRI and CSF investigations revealed meningeal involvement in a 29-year-old patient with biopsy-confirmed Wegener's granulomatosis. The intracranial manifestation of Wegener's granulomatosis was supported by the detection of pathologic circulating antineutrophil cytoplasm (c-ANCA) in the CSF. We monitored disease activ...

journal_title：Neurology

authors： Spranger M,Schwab S,Meinck HM,Tischendorf M,Sis J,Breitbart A,Andrassy K

更新日期：1997-01-01 00:00:00

abstract：:Cost-effective approaches for arriving at correct diagnoses should be used. Herein, we compare three approaches for the differential diagnosis of a common neurologic syndrome, peripheral neuropathy. In the "shotgun" approach, a standard battery of hematologic, biochemical, serologic, antibody, enzyme, molecular geneti...

journal_title：Neurology

authors： Dyck PJ,Dyck PJ,Grant IA,Fealey RD

更新日期：1996-07-01 00:00:00

abstract：OBJECTIVE:The purpose of this cross-sectional study was to determine the prevalence and potential significance of stroke symptoms among end-stage renal disease (ESRD) patients without a prior diagnosis of stroke or TIA. METHODS:We enrolled 148 participants with ESRD from 5 clinics. Stroke symptoms and functional statu...

journal_title：Neurology

authors： Kurella Tamura M,Meyer JB,Saxena AB,Huh JW,Wadley VG,Schiller B

更新日期：2012-09-04 00:00:00

abstract：OBJECTIVE:To investigate the sensitivity of MRI of the spine compared with CT myelography (CTM) in detecting CSF leaks. METHODS:Between July 1998 and October 2010, 12 patients with orthostatic headache and a CTM-confirmed spinal CSF leak underwent an MRI of the spine with and without contrast. Using CTM as the gold st...

journal_title：Neurology

authors： Starling A,Hernandez F,Hoxworth JM,Trentman T,Halker R,Vargas BB,Hastriter E,Dodick D

更新日期：2013-11-12 00:00:00

abstract：OBJECTIVE:There is a high risk of readmission within 30 days of index acute ischemic stroke (AIS), but effect of readmission to a different hospital is not known. We performed a retrospective cohort study to assess our hypothesis that 30-day readmission outcomes after AIS are worse for those readmitted to another hospi...

journal_title：Neurology

authors： Stein LK,Agarwal P,Thaler A,Kwon CS,Jette N,Dhamoon MS

更新日期：2019-11-12 00:00:00

abstract：:Supporting young people with pediatric multiple sclerosis can be challenging for families and health care providers. Adolescents may be more resilient than adults in reaction to the diagnosis but can have more difficulty planning for their futures. Appropriate, sensitive, and focused health provision should include co...

journal_title：Neurology

authors： Krupp LB,Rintell D,Charvet LE,Milazzo M,Wassmer E

更新日期：2016-08-30 00:00:00

abstract：OBJECTIVE:To investigate the etiology of aseptic meningitis and encephalitis in an adult population using modern microbiologic methods. METHODS:Consecutive patients (ages > or =16) with aseptic meningitis or encephalitis treated in Turku University Hospital, Finland, during 1999 to 2003 were included in the study. Mic...

journal_title：Neurology

authors： Kupila L,Vuorinen T,Vainionpää R,Hukkanen V,Marttila RJ,Kotilainen P

更新日期：2006-01-10 00:00:00

abstract：OBJECTIVE:To assess the contribution of microstructural normal-appearing white matter (NAWM) damage to social cognition impairment, specifically in the theory of mind (ToM), in multiple sclerosis (MS). METHODS:We enrolled consecutively 60 patients with MS and 60 healthy controls (HC) matched on age, sex, and education...

journal_title：Neurology

authors： Batista S,Alves C,d'Almeida OC,Afonso A,Félix-Morais R,Pereira J,Macário C,Sousa L,Castelo-Branco M,Santana I,Cunha L

更新日期：2017-07-04 00:00:00

abstract：OBJECTIVE:To describe neural autoantibody profiles and outcomes in patients with neurologic autoimmunity associated with immune checkpoint inhibitor (ICI) cancer immunotherapy. METHODS:In this retrospective descriptive study, 63 patients with ICI-related neurologic autoimmunity were included: 39 seen at the Mayo Clini...

journal_title：Neurology

authors： Sechi E,Markovic SN,McKeon A,Dubey D,Liewluck T,Lennon VA,Lopez-Chiriboga AS,Klein CJ,Mauermann M,Pittock SJ,Flanagan EP,Zekeridou A

更新日期：2020-10-27 00:00:00

abstract：OBJECTIVE:To study the safety of off-label IV thrombolysis in patients with very severe stroke (NIH Stroke Scale [NIHSS] scores >25) compared with severe stroke (NIHSS scores 15-25), where treatment is within European regulations. METHODS:Data were analyzed from 57,247 patients with acute ischemic stroke receiving IV ...

journal_title：Neurology

authors： Mazya MV,Lees KR,Collas D,Rand VM,Mikulik R,Toni D,Wahlgren N,Ahmed N

更新日期：2015-12-15 00:00:00

abstract：:A number of unresolved issues complicate the effective management of patients with Parkinson's disease (PD). Chief among these is the role of neuroprotective versus symptomatic pharmacologic interventions. Until the etiology of PD is further defined, consensus on appropriate management of this illness is unlikely. Cli...

journal_title：Neurology

authors： Stern MB

更新日期：1997-07-01 00:00:00