Abstract:
:We studied two families with an unusual variant of neurofibromatosis (NF). The first family had spinal neurofibromas and café au lait spots (CLS), the second spinal neurofibromas without CLS. Other signs of NF1 or NF2, such as cutaneous tumors, Lisch nodules, or acoustic tumors, were absent. The inheritance pattern in both pedigrees was consistent with autosomal dominant inheritance. Using genetic linkage analysis with DNA markers tightly linked to the NF1 and NF2 loci, we determined that the likely location for the mutation in the first family was in the NF1 gene with odds of 97:1, whereas the mutation in the second family was excluded from the NF1 locus with odds greater than 100,000:1. Families such as these, in which a defined subset of the NF phenotype is passed on, are important for understanding the functional consequences of particular mutations in the NF genes.
journal_name
Neurologyjournal_title
Neurologyauthors
Pulst SM,Riccardi VM,Fain P,Korenberg JRdoi
10.1212/wnl.41.12.1923subject
Has Abstractpub_date
1991-12-01 00:00:00pages
1923-7issue
12eissn
0028-3878issn
1526-632Xjournal_volume
41pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::We evaluated four formulas for estimating the intra-blood-brain barrier (IBBB) synthesis of IgG in a computer model of two types of BBB damage and in 1,629 consecutively received pairs of CSF and serum. These four formulas were the IgG synthesis rate (SR), IgG(loc) (ie, local), IgG index, and IgG extended index. Resul...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.3.510
更新日期:1992-03-01 00:00:00
abstract::This study concerns the expression of Met-enkephalin (MEnk) in the striatum and the external segment of the globus pallidus proper (GPe) in normal controls, idiopathic Parkinson's disease (PD), and striatonigral degeneration (SND). For this purpose, we developed a sensitive immunoperoxidase technique to visualize MEnk...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.40.7.1051
更新日期:1990-07-01 00:00:00
abstract::Central nervous system involvement in melioidosis is unusual. We describe a 34-year-old man who developed a Pseudomonas pseudomallei meningitis, manifested as bilateral third-nerve palsies, 13 years after having been in southeast Asia. Diagnosis was established by a fourfold rise in the serum antibody titer for the ba...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.1.105
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVE:Asians who carry the HLA-B*1502 allele have an elevated risk of developing Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) when treated with the antiepileptic drugs (AEDs) carbamazepine (CBZ) and phenytoin (PHT). With a focus on Singapore, this analysis identifies circumstances in which ge...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31826aac73
更新日期:2012-09-18 00:00:00
abstract::This report describes the effectiveness of gabapentin, a recently approved anticonvulsant, in seven patients with MS experiencing trigeminal neuralgia refractory to treatment with conventional medical therapy. Gabapentin relieved pain completely in six and significantly in the seventh patient. Gabapentin may be a valu...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.51.2.611
更新日期:1998-08-01 00:00:00
abstract::A right-handed woman with independent left- and right-sided temporal lobe discharges was studied by continuous EEG and videotape monitoring for 3 weeks. Changes in affect were noted in the immediate and extended postictal periods and varied with the side of discharge. After a left-sided discharge, she became globally ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.35.9.1335
更新日期:1985-09-01 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
pub_type: 杂志文章,评审
doi:10.1212/wnl.67.9_suppl_3.s2
更新日期:2006-11-14 00:00:00
abstract::In a series of 44 consecutive patients with Charcot-Marie-Tooth disease (CMT), we found restless legs syndrome (RLS) in 10 of 27 CMT type 2 (CMT2) patients (37%) and in none of 17 CMT type 1 patients (p = 0.004). In the CMT2 patients, RLS was associated with positive sensory symptoms (10/10 versus 10/17; p = 0.026). T...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.52.5.1064
更新日期:1999-03-23 00:00:00
abstract::Isovaleric acidemia (IVA) is an inborn error of leucine metabolism, resulting in an accumulation of isovaleric acid in the body fluids. The neuropathologic findings in an 11-day-old infant with IVA consisted of diffuse cerebral edema, massive cerebellar hemorrhage, upward transtentorial herniation, and focal degenerat...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.31.6.746
更新日期:1981-06-01 00:00:00
abstract:OBJECTIVE:To compare the sensitivity of structural MRI and 18F-fludeoxyglucose PET (18FDG-PET) to detect longitudinal changes in frontotemporal dementia (FTD). METHODS:Thirty patients with behavioral variant FTD (bvFTD), 7 with nonfluent/agrammatic variant primary progressive aphasia (nfvPPA), 16 with semantic variant...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000009760
更新日期:2020-07-14 00:00:00
abstract:OBJECTIVE:To review the disciplinary process by which the American Academy of Neurology (AAN) enforces its formalized standards of professional conduct. METHODS:We reviewed the AAN's Disciplinary Action Policy. We tracked the elapsed time from receipt to final decision of all allegations ("complaints") of improper con...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e318202014e
更新日期:2010-12-14 00:00:00
abstract:OBJECTIVE:To determine whether, and to what degree, preclinical Alzheimer disease (AD) confounds studies of healthy aging where "healthy" is based on cognitive normality alone. METHODS:We examined the effects of preclinical AD in cognitively normal older individuals using resting-state functional connectivity MRI. We ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000000939
更新日期:2014-10-28 00:00:00
abstract::We investigated the prevalence of Parkinson's disease and other types of parkinsonism in a Sicilian population using a door-to-door two-phase approach. This design called for the administration of a brief screening instrument to all subjects who, on November 1, 1987, were residents of Terrasini (Palermo Province), San...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.10.1901
更新日期:1992-10-01 00:00:00
abstract:OBJECTIVE:To report the incidence of prion disease in the United States. METHODS:Prion disease decedents were retrospectively identified from the US national multiple cause-of-death data for 2003-2015 and matched with decedents in the National Prion Disease Pathology Surveillance Center (NPDPSC) database through compa...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000008680
更新日期:2020-01-14 00:00:00
abstract::The role of gender in the pathogenesis of Alzheimer's disease (AD) is an important issue that remains controversial. We compared men and women in late-onset familial AD kindreds for the risk of developing AD by studying 26 well-characterized familial AD kindreds from the Oregon Alzheimer Disease Center and, for confir...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.46.1.126
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVE:To validate a neuropsychological algorithm for dementia diagnosis. METHODS:We developed a neuropsychological algorithm in a sample of 1,023 elderly residents of Cache County, UT. We compared algorithmic and clinical dementia diagnoses both based on DSM-III-R criteria. The algorithm diagnosed dementia when th...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.54.6.1290
更新日期:2000-03-28 00:00:00
abstract::We tested the hypothesis that asymptomatic carriers of dopa-responsive dystonia (DRD) have increased dopamine D2 receptors in the striatum that protect them from the clinical manifestations of dopaminergic deficiency. We examined striatal D2-receptor binding in (1) symptomatic subjects (treated and untreated) and (2) ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.50.4.1028
更新日期:1998-04-01 00:00:00
abstract::The predictive value of CSF oligoclonal banding for the development of clinically definite MS (CDMS) within 5 years after optic neuritis was assessed in 76 patients enrolled in the Optic Neuritis Treatment Trial. The presence of oligoclonal bands was associated with the development of CDMS (p = 0.02). However, the res...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.51.3.885
更新日期:1998-09-01 00:00:00
abstract::Four patients had anosognosia for hemiplegia (AHP) as a manifestation of pontine infarction in the mediolateral region. Patients with AHP syndrome had no mental and neuropsychologic disturbances, and all had involvement of the medial or lateral part of the pons (medial or lateral pontine reticular nuclei). Brainstem l...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.53.3.647
更新日期:1999-08-11 00:00:00
abstract:BACKGROUND:In the setting of severe immunosuppression, the polyomavirus JC (JCV) can cause a lytic infection of oligodendrocytes. This demyelinating disease of the CNS white matter (WM) is called progressive multifocal leukoencephalopathy (PML). JCV has a very narrow host-cell range and productive infection of neurons ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000081306.86961.33
更新日期:2003-09-23 00:00:00
abstract:BACKGROUND:In a recent study, the authors found that blinks in healthy volunteers always triggered ocular torsion quick phases during dynamic roll movements of the head. On the basis of this observation, they hypothesized that blinks in patients with a vestibular tone imbalance would also trigger torsional quick phases...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000141144.02666.8c
更新日期:2004-10-12 00:00:00
abstract:OBJECTIVE:To study and provide an update on the state of clinical research in neurology in the United States. METHODS:US American Academy of Neurology members and chairs of departments of neurology were surveyed regarding clinical research in 2016. NIH data on the neuroscience pipeline and extramural grant funding wer...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000005295
更新日期:2018-04-10 00:00:00
abstract::Cerebral necrosis following stroke exposes brain antigens to the immune system, potentially initiating an antibody response. The authors measured levels of antibodies to specific neuronal antigens, neurofilaments (NF), and a ubiquitous antigen, cardiolipin (CL), in 45 patients following an acute first-ever stroke, wit...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.56.4.529
更新日期:2001-02-27 00:00:00
abstract::We used riboflavin to treat a patient with lipid myopathy, reduced exercise capacity, intolerance to fasting, and reduced concentrations of carnitine in muscle and serum. Although carnitine concentrations did not change, exercise capacity doubled, and response to fasting improved. Muscle enzyme assay showed that palmi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.31.12.1557
更新日期:1981-12-01 00:00:00
abstract::We conducted a case-control study of the possible association of occupations with likely exposure to electromagnetic fields and Alzheimer's disease (AD) with patients from the Alzheimer Disease Treatment and Diagnostic Center, Rancho Los Amigos Medical Center, Downey, CA. Patients with definite or probable AD were the...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.47.6.1477
更新日期:1996-12-01 00:00:00
abstract::In thymomas associated with myasthenia gravis (MG), the authors found that perivascular infiltrates of memory lymphocytes and mature dendritic cells (DCs) were more frequent in patients with early improvement after thymectomy than in patients without response to thymectomy. Although these findings may be limited to pa...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000174560.35190.84
更新日期:2005-09-13 00:00:00
abstract::Butyrylcholinesterase is implicated in the pathology of AD. Selective inhibitors increase acetylcholine and improve cognitive function in animal models. In dementia with Lewy bodies, cholinergic activities are more affected than in AD. The authors report a highly significant association between temporal cortex butyryl...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000068336.84399.9e
更新日期:2003-06-10 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:BACKGROUND:Muscle channelopathies such as paramyotonia, hyperkalemic periodic paralysis, and potassium-aggravated myotonia are caused by gain-of-function Na+ channel mutations. METHODS:Methods: Implementation of a three-dimensional radial 23Na magnetic resonance (MR) sequence with ultra-short echo times allowed the au...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000233841.75824.0f
更新日期:2006-10-10 00:00:00
abstract::Using a 1.5-tesla GE Signa MR scanner, we imaged the brains of 14 right-handed Tourette's syndrome (TS) patients (11 men, three women), aged 18 to 49 years, who had minimal lifetime neuroleptic exposure. We also studied an equal number of normal controls individually matched for age, sex, and handedness and group-matc...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.43.5.941
更新日期:1993-05-01 00:00:00