Abstract:
:The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic criteria for AD and in 26 DS controls matched for age, sex, and premorbid level of mental retardation. A meta-analysis of data available in the literature was used for comparison with allele frequencies in other AD and control populations. ApoE type 2, 3, or 4 allele frequencies were not significantly different in AD-DS cases and DS controls. The ApoE epsilon 4 frequency in DS cases with AD (0.14; CI, 0.06-0.26) was significantly lower than in any other AD population studied so far and it is within the range of nondemented controls from the general population. These findings suggest that ApoE epsilon 4 does not significantly affect the pathogenesis of AD in DS patients.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
van Gool WA,Evenhuis HM,van Duijn CMdoi
10.1002/ana.410380215subject
Has Abstractpub_date
1995-08-01 00:00:00pages
225-30issue
2eissn
0364-5134issn
1531-8249journal_volume
38pub_type
杂志文章abstract::Monoclonal antibodies that target CD20 expressing B cells represent an important new treatment option for patients with multiple sclerosis (MS). B-cell-depleting therapy is highly effective against relapsing forms of the disease and is also the first treatment approach proven to protect against disability worsening in...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.25119
更新日期:2018-01-01 00:00:00
abstract::Serological evidence of either acute cytomegalovirus (CMV) or Epstein-Barr virus (EBV) infection was sought in a large series of patients with Guillain-Barré syndrome (GBS) and control subjects. Using an indirect immunofluorescent technique, IgM antibody directed against CMV was found in the serum of 33 of 220 GBS pat...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090709
更新日期:1981-01-01 00:00:00
abstract::A prospective study was made of changes in the electroencephalogram after the use of metrizamide for myelography and posterior fossa cisternography in 61 patients (62 studies). The EEG changed in 21 patients (34%); 3 of these had had previously abnormal records, and the abnormalities were accentuated on the second rec...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060308
更新日期:1979-09-01 00:00:00
abstract:OBJECTIVE:Recent studies carried out on amyotrophic lateral sclerosis patients suggest that the disease might initiate in the motor cortex and spread to its targets along the corticofugal tracts. In this study, we aimed to test the corticofugal hypothesis of amyotrophic lateral sclerosis experimentally. METHODS:Sod1G8...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25833
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVE:Accumulation of mitochondrial DNA (mtDNA) damage has been associated with aging and abnormal oxidative metabolism. We hypothesized that in human immunodeficiency virus-associated sensory neuropathy (HIV-SN), damaged mtDNA accumulates in distal nerve segments, and that a spatial pattern of mitochondrial dysfun...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22150
更新日期:2011-01-01 00:00:00
abstract::A 37-year-old woman with primary Sjögren syndrome developed mixed cryoglobulinemia and systemic vasculitis. Subarachnoid hemorrhage occurred as a result of necrotizing anterior spinal arteritis. Although rarely seen in mixed cryoglobulinemia, central nervous system complications have recently been documented in Sjögre...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110614
更新日期:1982-06-01 00:00:00
abstract:OBJECTIVE:There are no validated methods for predicting the timing of seizures. Using machine learning, we sought to forecast 24-hour risk of self-reported seizure from e-diaries. METHODS:Data from 5,419 patients on SeizureTracker.com (including seizure count, type, and duration) were split into training (3,806 patien...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25812
更新日期:2020-09-01 00:00:00
abstract::Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK ge...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21755
更新日期:2009-10-01 00:00:00
abstract::In multiple sclerosis (MS), the influx of activated T lymphocytes into the brain parenchyma leads to the subsequent damage of oligodendrocytes, the cells that produce central nervous system (CNS) myelin. We report here that interferon beta-1b (IFNbeta-1b), a drug shown to be efficacious in the treatment of patients wi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400607
更新日期:1996-12-01 00:00:00
abstract::Recent studies have indicated a normal gene dose for the amyloid precursor protein (APP) in Alzheimer's disease (AD). These findings leave open the possibility that elevated levels of messenger RNA (mRNA) for this protein may contribute to the pathogenesis of AD. Using Northern analysis, we compared the levels of mRNA...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410250404
更新日期:1989-04-01 00:00:00
abstract::We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310305
更新日期:1992-03-01 00:00:00
abstract::We have conducted a trial to randomly assess the efficacy and tolerance of intravenous immunoglobulin (i.v.Ig) or plasma exchange (PE) in myasthenia gravis (MG) exacerbation and to compare two doses of i.v.Ig. Eighty-seven patients with MG exacerbation were randomized to receive either three PE (n = 41), or i.v.Ig (n ...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/ana.410410615
更新日期:1997-06-01 00:00:00
abstract::A 51-year-old man with non-HLA-DR2 histocompatibility developed classic signs and symptoms of the narcoleptic tetrad soon after recovering from an episode of cardiopulmonary insufficiency, which occurred during induction of surgical anesthesia. Symptoms included excessive daytime sleepiness, hypnagogic hallucinations,...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190516
更新日期:1986-05-01 00:00:00
abstract:OBJECTIVE:Central nervous system pathology in multiple sclerosis includes both focal inflammatory perivascular injury and injury to superficial structures, including the subpial region of the cortex, which reportedly exhibits a gradient of damage from the surface inward. We assessed how early in the multiple sclerosis ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25429
更新日期:2019-03-01 00:00:00
abstract::Sera from 6 of 12 patients with paraneoplastic cerebellar degeneration (PCD) contained anti-Purkinje cell antibodies, as determined by indirect immunofluorescence on frozen sections of normal human cerebellum. Samples of cerebrospinal fluid from 2 of the patients with serum antibodies were tested, and both specimens c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180513
更新日期:1985-11-01 00:00:00
abstract::An 18-year-old man with acne fulminans developed an acute inflammatory myositis, an association not previously reported. The condition resolved with treatment using systemic corticosteroids. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080110
更新日期:1980-07-01 00:00:00
abstract:OBJECTIVE:Osteopontin (OPN), a pleiotropic extracellular matrix glycoprotein, has been reported to be protective against ischemic lesions, but effects of OPN on vascular functions have not been investigated. The aim of this study was to assess whether recombinant OPN (r-OPN) could prevent cerebral vasospasm after subar...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22102
更新日期:2010-11-01 00:00:00
abstract::This study reports a case of type VII mucopolysaccharidosis (beta-glucuronidase deficiency) presenting as lethal hydrops fetalis. Skin fibroblast cultures established postmortem revealed deficient beta-glucuronidase activity. Mucopolysaccharides were stored in various cells of the brain, heart, kidney, liver, and sple...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140415
更新日期:1983-10-01 00:00:00
abstract::Intracytoplasmic aggregation of alpha-synuclein protein as Lewy bodies in the brainstem neurons is diagnostic for Parkinson's disease, whereas if this process also occurs in the cortical neurons, it is considered pathognomonic for dementia with Lewy bodies. However, the link between alpha-synuclein incorporation into ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20321
更新日期:2005-01-01 00:00:00
abstract::Myelination is a central nervous system (CNS) process wherein oligodendrocyte-axon interactions lead to the establishment of myelin sheaths that stabilize, protect, and electrically insulate axons. In inflammatory demyelinating diseases such as multiple sclerosis (MS), the degeneration and eventual loss of functional ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.22415
更新日期:2011-04-01 00:00:00
abstract::Units linked to stimulation of the superior sagittal sinus were identified and recorded from in the trigeminocervical complex of the anesthetized cat. Iontophoresis of glutamate NMDA receptor agonists increased the baseline-firing rate of these neurons. Coejection of sumatriptan, 4991W93, or ergometrine resulted in a ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10066
更新日期:2001-12-01 00:00:00
abstract::Nineteen patients with radiologically confirmed stroke, and varying degrees of hemiparesis, were studied using somatosensory evoked potentials and the recently developed technique of transcutaneous motor cortex stimulation. The functional deficit caused by stroke was assessed at the time of evoked potential testing an...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410250111
更新日期:1989-01-01 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:OBJECTIVE:The dose-response effects of dysferlin transgenesis were analyzed to determine if the dysferlin-deficient myopathies are good candidates for gene replacement therapy. METHODS:We have generated 3 lines of transgenic mice, expressing low, mid, and high levels of full-length human dysferlin from a muscle-specif...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21926
更新日期:2010-03-01 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:A study was undertaken to describe the clinical spectrum, voltage-gated potassium channel (VGKC) complex antibody specificities, and central nervous system localization of antibody binding in 29 patients diagnosed with Morvan syndrome (MoS). METHODS:Clinical data were collected using questionnaires. Radioimm...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.23577
更新日期:2012-08-01 00:00:00
abstract::The mechanism by which iron enters the central nervous system from the blood is not well understood. Iron in blood plasma is totally bound to transferrin (Tf), a major plasma glycoprotein. Tf receptors are present on the blood-brain barrier (BBB) endothelium. It is not known whether iron separates from Tf during its p...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320709
更新日期:1992-01-01 00:00:00
abstract::A 40-year-old man with relapsing-remitting multiple sclerosis (MS) developed primary central nervous system lymphoma (PCNSL) after having received 21 doses of natalizumab monotherapy. PCNSL is a disease of the elderly, with the majority of patients being diagnosed in the 7th to 8th decade of life. Immunodeficiency, ia...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21782
更新日期:2009-09-01 00:00:00
abstract::An X-linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five-generation family is described. The 12 affected boys had early-onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330519
更新日期:1993-05-01 00:00:00
abstract::Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intenti...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24778
更新日期:2016-11-01 00:00:00