Abstract:
OBJECTIVE:To examine the genetic relationships among epilepsies with different seizure types--myoclonic, absence, and generalized tonic-clonic--within the idiopathic generalized epilepsies (IGEs). BACKGROUND:Careful phenotype definition in the epilepsies may allow division into groups that share susceptibility genes. Examination of seizure type, a phenotypic characteristic less complex than IGE syndrome, may help to define more homogeneous subgroups. METHODS:Using the approach that found evidence of distinct genetic effects on myoclonic vs absence seizures in families from the Epilepsy Family Study of Columbia University, the authors examined an independent sample of families from Australia and Israel. They also examined the familial clustering of generalized tonic-clonic seizures (GTCs) within the IGEs in two combined data sets. Families were defined as concordant if all affected members had the same type of seizure or IGE syndrome, as appropriate for the analysis performed. RESULTS:The proportion of families concordant for myoclonic vs absence seizures was greater than expected by chance in the Australian families. In addition, GTCs clustered in families with IGEs to a degree greater than expected by chance. CONCLUSIONS:These results provide additional evidence for distinct genetic effects on myoclonic vs absence seizures in an independent set of families and suggest that there is a genetic influence on the occurrence of generalized tonic-clonic seizures within the idiopathic generalized epilepsies.
journal_name
Neurologyjournal_title
Neurologyauthors
Winawer MR,Marini C,Grinton BE,Rabinowitz D,Berkovic SF,Scheffer IE,Ottman Rdoi
10.1212/01.wnl.0000172920.34994.63subject
Has Abstractpub_date
2005-08-23 00:00:00pages
523-8issue
4eissn
0028-3878issn
1526-632Xpii
65/4/523journal_volume
65pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::This study reports the results of a prospective trial of nonoperative management of the cubital tunnel syndrome in 128 patients. Forty-three of the patients had bilateral ulnar nerve compression. At study's end, information was available on 94% of patients and 164 managed extremities, at a mean of 58.6 months of follo...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.43.9.1673
更新日期:1993-09-01 00:00:00
abstract:OBJECTIVE:To investigate possible correlations between tumor location and genetic alterations in a series of oligodendrogliomas. METHODS:A series of 158 consecutive oligodendrogliomas were retrospectively reviewed. In each case, the radiologic picture and the chromosome 1p (chr 1p) status of the tumor detected by the ...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/01.wnl.0000148642.26985.68
更新日期:2004-12-28 00:00:00
abstract::The authors measured the association of early ischemic change on CT scan, measured using the Alberta Stroke Programme Early CT score (ASPECTS), and functional outcome in 825 patients with anterior circulation stroke treated with IV thrombolysis within 3 hours of onset. ASPECTS predicted outcome in a graded fashion (li...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000228221.44334.73
更新日期:2006-08-08 00:00:00
abstract:OBJECTIVE:To determine the rate of progression of mild cognitive impairment (MCI) to dementia with Lewy bodies (DLB). METHODS:We followed 337 patients with MCI in the Mayo Alzheimer's Disease Research Center (range 2-12 years). Competing risks survival models were used to examine the rates of progression to clinically...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000436942.55281.47
更新日期:2013-12-03 00:00:00
abstract::We examined six patients with an abrupt change in behavior after infarction involving the inferior genu of the internal capsule. The acute syndrome featured fluctuating alertness, inattention, memory loss, apathy, abulia, and psychomotor retardation, suggesting frontal lobe dysfunction. Contralateral hemiparesis and d...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.10.1966
更新日期:1992-10-01 00:00:00
abstract:BACKGROUND:The neurodegenerative process in Alzheimer's disease (AD) and in the Lewy body variant of AD (LBV) patients is characterized by cholinergic dysfunction and deposition of amyloid beta-peptide (Abeta) 1-40 and 1-42; however, the differential effects of Abeta species on the cholinergic system are not completely...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000073987.79060.4b
更新日期:2003-07-22 00:00:00
abstract::Noninvasive positive pressure ventilation prolongs survival in ALS but its effect on quality of life is unknown. The authors prospectively studied quality of life using the SF-36 questionnaire in a cohort of 16 ventilated patients with ALS. Noninvasive positive pressure ventilation improved scores in the "Vitality" do...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.1.153
更新日期:2001-07-10 00:00:00
abstract:OBJECTIVE:To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S). BACKGROUND:Hypokalemic periodic paralysis is primarily caused by mutations within CACNA1S. Genetic heterogeneity...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.53.9.1932
更新日期:1999-12-10 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
pub_type: 杂志文章
doi:10.1212/WNL.0000000000004157
更新日期:2017-07-25 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
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001925
更新日期:2015-09-15 00:00:00
abstract:BACKGROUND:Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations in the MR-1 gene causing familial PNKD. METHODS:We reviewed the clinical features of 14 kindreds with familial dyskinesia that was not clearly induced...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000262029.91552.e0
更新日期:2007-05-22 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
pub_type: 杂志文章
doi:10.1212/01.wnl.0000127608.48406.f1
更新日期:2004-06-08 00:00:00
abstract::Early, intravenous administration of hematin in a patient with acute intermittent porphyria and severe quadriparesis may have produced partial but remarkable improvement of neuropathy, and resulted in simultaneous decline of porphyrin precursors in the blood. Intermittent, biweekly hematin infusions given 1 month afte...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.27.11.1053
更新日期:1977-11-01 00:00:00
abstract:OBJECTIVE:This study assessed the tissue integrity of major cervical cord tracts by using diffusion tensor imaging (DTI) to determine the relationship with specific clinical functions carried by those tracts. METHODS:This was a cross-sectional study of 37 patients with multiple sclerosis or neuromyelitis optica with r...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e318296e8f1
更新日期:2013-06-11 00:00:00
abstract:OBJECTIVE:To investigate the association between urinary hormone levels and migraine, with particular reference to rising and falling levels of estrogen across the menstrual cycle in women with menstrual and menstrually related migraine. METHODS:Women with regular menstrual cycles, who were not using hormonal contrace...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000233888.18228.19
更新日期:2006-12-26 00:00:00
abstract:BACKGROUND:Silent infarcts are commonly discovered on cranial MRI in the elderly. OBJECTIVE:To examine the association between risk of stroke and presence of silent infarcts, alone and in combination with other stroke risk factors. METHODS:Participants (3,324) in the Cardiovascular Health Study (CHS) without a histor...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.7.1222
更新日期:2001-10-09 00:00:00
abstract:OBJECTIVES:We used functional MRI (fMRI), transcranial Doppler ultrasound, and visual evoked potentials (VEPs) to determine the nature of blood flow responses to functional brain activity and carbon dioxide (CO2) inhalation in patients with cerebral amyloid angiopathy (CAA), and their association with markers of CAA se...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000435291.49598.54
更新日期:2013-11-05 00:00:00
abstract:BACKGROUND:Cerebral microbleeds (CMB) may be indicative of a hemorrhage-prone microangiopathy. OBJECTIVE:To determine if increased numbers of these lesions are predictive of intracerebral hemorrhage (ICH), especially in terms of a distributional association. METHODS:The authors examined consecutively 227 patients wit...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000101463.50798.0d
更新日期:2004-01-13 00:00:00
abstract::A term neonate was being treated with intravenous phenytoin. To maintain a serum level above 10 micrograms per milliliter and abolish seizure activity, it was necessary to carry out repeated serum concentration measurements, administer several loading doses, and administer an unusually large maintenance dose (25 mg pe...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.1.106
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVE:To investigate the involvement of the epidermal small sensory fibers in the neurodegenerative process in amyotrophic lateral sclerosis (ALS). METHODS:In the present study, skin biopsies of 28 patients with ALS were obtained at an average of 34 months after disease onset by history. Protein gene product 9.5 (...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31821e553a
更新日期:2011-06-07 00:00:00
abstract::Patients, clinicians, and hospitals have undergone monumental changes during the coronavirus disease 2019 (COVID-19) pandemic. This crisis has forced us to consider the obligations that we neurologists have to our individual patients as well as the greater community. By returning to our fundamental understanding of th...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000009744
更新日期:2020-07-28 00:00:00
abstract::Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor mi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.48.5.1238
更新日期:1997-05-01 00:00:00
abstract::The levels of plasma free carnitine and ketone bodies have been found to fluctuate inversely in fasting individuals without muscle disease. Circulating short-chain acyl-carnitines paralleled beta-hydroxybutyrate levels. A patient with lipid storage myopathy and muscle carnitine deficiency, and his two daughters, devel...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.29.6.780
更新日期:1979-06-01 00:00:00
abstract:BACKGROUND:Quantitative head impulse test (HIT) measures the gain of the angular vestibulo-ocular reflex (VOR) during head rotation as the ratio of eye to head acceleration. Bedside HIT identifies subsequent catch-up saccades after the head rotation as indirect signs of VOR deficit. OBJECTIVE:To determine the VOR defi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000299117.48935.2e
更新日期:2008-02-05 00:00:00
abstract:OBJECTIVE:To study the effect of pregnancy on the frequency of neuromyelitis optica spectrum disorder (NMOSD) relapse and evaluate rates of pregnancy-related complications in an international multicenter setting. METHODS:We administered a standardized survey to 217 women with NMOSD from 7 medical centers and reviewed ...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/WNL.0000000000004681
更新日期:2017-11-28 00:00:00
abstract:OBJECTIVE:(1)H-MRS studies have shown abnormalities in brain levels of myo-inositol (mI) and N-acetyl aspartate (NAA) in AD, but the relation of these abnormalities with dementia severity was not examined. The authors sought to determine whether altered brain levels of mI and other metabolites occur in mild AD and whet...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.4.626
更新日期:2001-08-28 00:00:00
abstract:OBJECTIVE:To evaluate the predictive utility of self-reported and informant-reported functional deficits in patients with mild cognitive impairment (MCI) for the follow-up diagnosis of probable AD. METHODS:The Pfeffer Functional Activities Questionnaire (FAQ) and Lawton Instrumental Activities of Daily Living (IADL) S...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.58.5.758
更新日期:2002-03-12 00:00:00
abstract:OBJECTIVE:Frontotemporal lobar degeneration (FTLD) encompasses a variety of clinicopathologic entities. The antemortem prediction of the underlying pathologic lesions is reputed to be difficult. This study sought to characterize correlations between 1) the different clinical variants of primary progressive language and...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181c7198e
更新日期:2010-01-05 00:00:00
abstract::In multifocal motor neuropathy (MMN), little is known of the long-term effect of human immunoglobulin (HIG) infusions as a maintenance therapy. We report a patient who improved after an initial HIG infusion of 2 g/kg and continued to improve both clinically and electrophysiologically during maintenance HIG treatment c...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.45.5.987
更新日期:1995-05-01 00:00:00
abstract::We analyzed EEGs performed over a 6-month period on patients with impaired consciousness following acute hypoxia or anoxia. There were 17 EEGs performed on 14 patients. Nine of the 17 records contained spindle activity. Spindles were present in 6/8 EEGs in stuporous patients, in 3/9 EEGs in comatose patients, in 6/10 ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.44.4.758
更新日期:1994-04-01 00:00:00