Abstract:
:A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Galen malformation. Hemangiomas that grossly resembled the skin lesions of BRBNS were seen on the cerebral surface. Many of these hemangiomas were thrombosed and overlay patchy zones of infarction. Numerous vascular malformations of varying histological types were also found within the brain and systemic organs. Bluish, compressible, often raised hemangiomas of the skin should alert physicians to the BRBNS and the potential for vascular malformations ot occur within the brain as well as systemic organs. Diagnosis of BRBNS involving the brain may assist in interpretation of radiographic findings. The tendency of these malformations to thrombose may account for focal neurological deficits.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Waybright EA,Selhorst JB,Rosenblum WI,Suter CGdoi
10.1002/ana.410030522subject
Has Abstractpub_date
1978-05-01 00:00:00pages
464-7issue
5eissn
0364-5134issn
1531-8249journal_volume
3pub_type
杂志文章abstract::A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140611
更新日期:1983-12-01 00:00:00
abstract::To study the distribution of myelin-associated glycoprotein (MAG) in human nervous tissue and in multiple sclerosis (MS) lesions, we used paraffin sections and our modification of the peroxidase-antiperoxidase technique. Sections of MS lesions also were treated with antiserum to basic protein (BP) and with histologica...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070212
更新日期:1980-02-01 00:00:00
abstract:OBJECTIVES:Amyloid-beta(42) (Abeta(42)) appears central to Alzheimer's disease (AD) pathogenesis and is a major component of amyloid plaques. Mean cerebrospinal fluid (CSF) Abeta(42) is decreased in dementia of the Alzheimer's type. This decrease may reflect plaques acting as an Abeta(42) "sink," hindering transport of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20730
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:Determine the probability of attaining complete remission in children with nonsyndromic epilepsy (NSE) over the course of ≥10 years from initial diagnosis; identify early predictors of complete remission; and assess the risk of relapse after achieving complete remission. METHODS:In a prospective community-ba...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22461
更新日期:2011-10-01 00:00:00
abstract::Direct DNA tests for mutations in neurogenetic disorders are establishing a new era in diagnostic neurology. These highly accurate and specific tests will greatly improve diagnosis and genetic counseling, lead to more accurate assessment of prognosis, and reduce the cost of diagnostic evaluations. However, the use and...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380204
更新日期:1995-08-01 00:00:00
abstract::Creutzfeldt-Jakob disease (CJD) is a rare dementia that is generally found in older people and is caused by unusual infectious pathogens or prions. Using rabbit antisera raised against hamster scrapie prion proteins (HaPrPSc), we identified by immunoblotting human CJD prion proteins (HuPrPCJD) in the brains of 14 pati...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210611
更新日期:1987-06-01 00:00:00
abstract::We report four children with idiopathic stroke syndromes who were assayed for human leukocyte antigen (HLA) class I markers and found to have HLA-B51 in common. This finding suggests that there may be a genetic predisposition for "idiopathic" childhood stroke, and host factors, possibly in concert with environmental f...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310618
更新日期:1992-06-01 00:00:00
abstract::We describe a young child with tuberous sclerosis and cardiac rhabdomyoma who developed reversible heart block after being placed on carbamazepine treatment for seizures. Patients of any age with known or suspected intrinsic cardiac disease should be monitored for conduction disturbance if they are treated with carbam...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340417
更新日期:1993-10-01 00:00:00
abstract::Recent neuroepidemiological studies of endemic tropical spastic paraparesis (TSP) have confirmed the existence of high-prevalence foci in several tropical islands, including Jamaica and Martinique in the Caribbean, Tumaco off the Pacific coast of Colombia, and the Seychelles in the Indian Ocean. There is a net prepond...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230728
更新日期:1988-01-01 00:00:00
abstract::We investigated the relationship between cerebral activity (measured with positron emission tomography) and word rate in normal subjects and aphasic patients listening to monosyllabic words at rates up to those encountered in normal speech. By measuring the slope of the regression of the individual activity-word rate ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10181
更新日期:2002-05-01 00:00:00
abstract::Traumatic coma was produced in 45 monkeys by accelerating the head without impact in one of three directions. The duration of coma, degree of neurological impairment, and amount of diffuse axonal injury (DAI) in the brain were directly related to the amount of coronal head motion used. Coma of less than 15 minutes (co...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410120611
更新日期:1982-12-01 00:00:00
abstract::Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10505
更新日期:2003-03-01 00:00:00
abstract::A prospective clinical and biochemical study on the effects of treatment with haloperidol has been performed in seven patients with Tourette syndrome. Pretreatment cerebrospinal fluid levels of homovanillic acid (CSF HVA) were significantly reduce in all patients, whereas 5-hydroxyindoleacetic acid was reduced in only...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410120408
更新日期:1982-10-01 00:00:00
abstract::In vivo phosphorus nuclear magnetic resonance spectroscopy (31P NMR) was used to evaluate the pattern of phosphate compounds in seven newborn babies (mean gestational age, 32 weeks; birth weight, 1,430 gm; age, 37 days) with a history of perinatal asphyxia. Spectra were collected in a 1.9 Tesla superconductive magnet ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160509
更新日期:1984-11-01 00:00:00
abstract::A predominantly sensory peripheral neuropathy is common with human immunodeficiency virus (HIV) infection, but the cause is unknown. Formalin-fixed dorsal root ganglia (DRG), obtained at postmortem from patients with neuropathy and HIV infection and from control subjects, were examined for the presence of HIV DNA by u...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420315
更新日期:1997-09-01 00:00:00
abstract::Association studies have implicated common variants in the 12q14.1 region containing CYP27B1 in multiple sclerosis (MS). Rare CYP27B1 mutations cause autosomal recessive vitamin D-dependent rickets type 1, and it has recently been reported that heterozygous CYP27B1 mutations are associated with increased MS susceptibi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23834
更新日期:2013-03-01 00:00:00
abstract::An artificial system is described in which anti-dinitrophenyl (DNP) antibody attaches to hapten-conjugated human brain tissue. Treatment of this material with acetic acid at pH 2.5 to 3.0 for 90 seconds followed by immediate neutralization results in dissociation of antibody from the hapten-conjugated brain. Less than...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030507
更新日期:1978-05-01 00:00:00
abstract::Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and n...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20529
更新日期:2005-07-01 00:00:00
abstract::A patient developed conjugate horizontal eye deviation to the side opposite a large frontal-perisylvian hemorrhage from a ruptured aneurysm. Autopsy examination confirmed the hemispheric locus of the hemorrhage and failed to disclose any lesion of the brainstem or thalamus to explain the "wrong-way" eye deviation. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090115
更新日期:1981-01-01 00:00:00
abstract::We report a prospective clinical and electroencephalographic study of 19 patients with juvenile myoclonic epilepsy and absence seizures. Absences began 1 to 9 (4.5 +/- 2.5) years before myoclonic jerks and generalized tonic-clonic seizures. Clinical manifestations during the absence ictus showed great variation, rangi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410250411
更新日期:1989-04-01 00:00:00
abstract::Dopa-responsive dystonia (DRD) is one form of childhood-onset idiopathic torsion dystonia. Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expression of the disease. We report a family with DRD in which 2 women a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320502
更新日期:1992-11-01 00:00:00
abstract::Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230402
更新日期:1988-04-01 00:00:00
abstract:OBJECTIVE:Though effective anti-human immunodeficiency virus (HIV) therapies are now available, they have variable penetration into the brain. We therefore aimed to assess changes over calendar time in the risk for HIV-associated dementia (HIV-D), and factors associated with HIV-D risk. METHODS:Using Concerted Action ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21225
更新日期:2008-02-01 00:00:00
abstract::Using two-color flow cytometric analysis, we studied peripheral blood lymphocyte subsets in 15 patients with human T-cell lymphotropic virus type I-associated myelopathy. The percentage of CD4+ 4B4+ cells (helper inducer T cell) was significantly increased in the patients with the myelopathy, compared with 16 healthy ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260212
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVE:To investigate whether soluble growth stimulation expressed gene 2 (sST2), a prognostic marker in cardiovascular and inflammatory disorders, is associated with neurological injury after aneurysmal subarachnoid hemorrhage (SAH). METHODS:We studied SAH patients from 2 independent cohorts. Outcome assessments i...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25545
更新日期:2019-09-01 00:00:00
abstract::Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. It has been hypothesized that it is caused by loss of "pause" neuronal inhibition of "burst" neuron function in the paramedian pontine reticular formation (PPRF); however, there have been no imaging studies confirmi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1140
更新日期:2001-09-01 00:00:00
abstract::In a prospective phase I/II clinical study, we treated eight patients suffering from recurrent glioblastoma multiform with stereotactically guided intratumoral convection-enhanced delivery of an HSV-1-tk gene-bearing liposomal vector and systemic ganciclovir. Noninvasive identification of target tissue together with a...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.10688
更新日期:2003-10-01 00:00:00
abstract::Endoneurial fluid pressure (EFP) was recorded by an active, servo-null pressure system after a glass micropipette was inserted into rat sciatic nerve undergoing wallerian degeneration. The lesions were produced by crushing the left sciatic nerve of the anesthetized animal at its point of entry into the thigh. Eighty-f...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050610
更新日期:1979-06-01 00:00:00
abstract:OBJECTIVE:Lacunar strokes are a leading cause of cognitive impairment and vascular dementia. However, adequate characterization of cognitive impairment is lacking. The aim of this study was to estimate the prevalence and characterize the neuropsychological impairment in lacunar stroke patients. METHODS:All English-spe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23733
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:Traumatic brain injury (TBI) often results in traumatic axonal injury (TAI). This can be difficult to identify using conventional imaging. Diffusion tensor imaging (DTI) offers a method of assessing axonal damage in vivo, but has previously mainly been used to investigate groups of patients. Machine learning ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23824
更新日期:2013-04-01 00:00:00