Abstract:
:A three generation family is presented in which rapidly progressive, early-onset Creutzfeldt-Jakob disease without typical EEG changes segregates as an autosomal dominant disease. An aspartic acid to asparagine mutation at codon 178 of the prion gene, PRNP, co-segregates with the disease. As expected, the disease allele also carries the valine codon of the polymorphic valine/methionine codon 129 of the gene. In family members homozygous for this valine codon the disease was more rapidly progressive than in a heterozygous family member, who had a variant clinical phenotype. Definite neuropathological diagnosis required prion staining with specific antibodies.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Holm IE,Abelskov K,Bojsen-Møller M,Nielsen AL,Jørgensen ALdoi
10.1034/j.1600-0404.2001.103003139.xsubject
Has Abstractpub_date
2001-03-01 00:00:00pages
139-47issue
3eissn
0001-6314issn
1600-0404pii
ane263journal_volume
103pub_type
杂志文章abstract:OBJECTIVES:Fatigue is a disabling and dopa-resistant symptom in Parkinson's disease (PD). Pathological studies have shown that both peripheral and central cholinergic systems are involved in PD. Electrophysiological investigation showed decremental muscle responses following repetitive nerve stimulation (RNS). We hypot...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.00046.x
更新日期:2001-11-01 00:00:00
abstract:OBJECTIVES:To examine through a meta-analysis whether a treatment strategy of surgery plus the routine medical management saves lives and reduces disability in survivors of primary supratentorial intracerebral hematoma compared to routine medical management alone. MATERIAL AND METHODS:Computerized bibliographic search...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析
doi:10.1111/j.1600-0404.1997.tb00078.x
更新日期:1997-02-01 00:00:00
abstract:OBJECTIVE:The aim was to investigate risk factors separately and in sum in relation to long-term mortality after arterial cerebral infarction in young adults. MATERIALS AND METHODS:Mortality in relation to the number of risk factors (smoking, hypertension, hypercholesterolemia, diabetes mellitus, myocardial infarction...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2012.01681.x
更新日期:2013-02-01 00:00:00
abstract::The death rate from Parkinson's disease (PD) were analyzed using Japanese vital statistics for 1950-1992. The age-adjusted PD death rate increased statistically significantly with the years between 1950 and 1992 for both sexes. However, decline in the PD death rate were observed among the population under 65 years old...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb00428.x
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVES:To investigate the association between tumor necrosis factor-alpha (TNF-alpha) G-308A, tumor necrosis factor-beta (TNF-beta) G+252A and interleukin-4 (IL-4) C-590T polymorphisms and susceptibility to multiple sclerosis (MS) development and clinical course of the disease. MATERIALS AND METHODS:Two hundred an...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00743.x
更新日期:2007-03-01 00:00:00
abstract:OBJECTIVES:Sparse information on dose-response characteristics for initial antiepileptic drug monotherapy in children with idiopathic generalized epilepsy (IGE) is available. The aim of this study is to characterize the therapeutic dose of valproate in children with newly diagnosed IGE. MATERIALS AND METHODS:Effect of...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2009.01308.x
更新日期:2010-03-01 00:00:00
abstract::Authors addressed the question whether the byosynthesis and the release of specific eicosanoids may occur in human brain cortex, and if the qualitative pattern of arachidonic acid metabolism is similar to that observed in experimental SAH. Human brain samples from 18 patients operated on for anterior communicating art...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05063.x
更新日期:1992-08-01 00:00:00
abstract::Adenylate kinase (AK) was determined in a lumbo-cisternal cerebrospinal fluid (CSF) gradient and in CSF from patients with mental deterioration. AK activity was unchanged in the gradient and different from albumin and albumin ratio (alb CSF/albumin serum), a blood-brain barrier marker in the same gradient. No differen...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1985.tb00912.x
更新日期:1985-11-01 00:00:00
abstract:OBJECTIVES:The differential diagnosis of patients with idiopathic parkinsonism is difficult, especially early in the course of the disease. External anal sphincter electromyography (EAS-EMG) has been reported to be of value in the differential diagnosis between Parkinson's disease (PD) and multiple system atrophy (MSA)...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01633.x
更新日期:2012-10-01 00:00:00
abstract::The alteration of amino acids in cerebrospinal fluids (CSF) from 14 cases of Parkinson's disease, five cases of cerebellar degeneration and five cases of headache (control) was studied using high performance liquid chromatography. In patients with Parkinson's disease, it was found that the CSF level of GABA showed a s...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03249.x
更新日期:1986-02-01 00:00:00
abstract:OBJECTIVES:Therapy of acute relapses in multiple sclerosis with corticosteroids (CC) remains uncertain with respect to route, dosage and effectiveness. This makes the treatment of relapses a clinical field where 'shared decision-making (SDM)' could be of advantage for the patients. A prerequisite for SDM is the provisi...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/j.1600-0404.2004.00284.x
更新日期:2004-07-01 00:00:00
abstract::The intrathecal production (ITP) of the immunoglobulins (Ig) G, A, M and D was examined in untreated patients with multiple sclerosis (MS) and controls. Sensitive sandwich enzyme-linked immunosorbent assay systems were applied to the determination of IgA, IgM and IgD levels in the cerebrospinal fluid and plasma from a...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1989.tb03869.x
更新日期:1989-09-01 00:00:00
abstract::The diagnosis of multiple sclerosis (MS) is clinical and verifiable at post mortem. Neuropathological examination of 518 consecutive patients with clinically definite MS revealed a correct diagnosis in 485 cases (94%). Clinical diagnosis had been established by a neurologist in all cases. Erroneous diagnosis included ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03616.x
更新日期:1988-07-01 00:00:00
abstract:OBJECTIVES:The Flt3 ligand (FL) is a cytokine with a neurotrophic and antiapoptotic activity in the central nervous system that induces the survival of neurons. The aim of the study was to measure levels of FL in amyotrophic lateral sclerosis (ALS) patients. MATERIALS AND METHODS:The study involved 23 ALS patients and...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00704.x
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVES:Until now, the significance of plasma exchange (PE) as a treatment for steroid-unresponsive optic neuritis (ON) is still unclear because placebo-controlled and larger studies are missing. We report our experience with 23 patients treated by PE due to steroid-unresponsive ON. MATERIALS AND METHODS:Patients w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01612.x
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVES:To describe the influence of the site of the bleeding on clinical spectrum and early outcome of patients with acute spontaneous intracerebral hemorrhage (ICH). MATERIALS AND METHODS:ICH was diagnosed in 229 (11%) of 2000 consecutive stroke patients included in a prospective stroke registry over a 10-year pe...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2002.1o170.x
更新日期:2002-04-01 00:00:00
abstract:BACKGROUND:Previous studies have shown that status epilepticus can lead to neuronal injury. However, the effect of a small number of isolated seizures is uncertain. METHODS:We used structural MRI and neuropathology to study the effects of isolated seizures induced by kainic acid (KA), (RS)-2-amino-3-(3-hydroxy-5-tert-...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01521.x
更新日期:2012-01-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to examine the coping strategies of 49 patients with amyotrophic lateral sclerosis (ALS) and their relationships with medical and demographic data. METHODS:A total of 49 subjects were asked to fill out a document that would provide their demographic and medical data. Then, each o...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2011.01513.x
更新日期:2012-02-01 00:00:00
abstract::16 boys with Duchenne muscular dystrophy (DMD) were treated with sodium selenite and vitamin E for one year. One group of patients (10 boys) was examined using a battery of tests to assess muscular strength and function and cardiopulmonary function, and by CT scanning of 2 muscle groups over the 4 years prior to treat...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1988.tb03681.x
更新日期:1988-11-01 00:00:00
abstract:OBJECTIVE:The reported sensitivity of transcranial Doppler ultrasonography (TCD) for confirming brain death (BD) ranges from 91% to 100%. We assessed the frequency and causes of false-negative results in TCD examination in a series of patients with BD and in the literature. METHODS:We carried out a prospective TCD exa...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00645.x
更新日期:2006-06-01 00:00:00
abstract:OBJECTIVES:Although the recovery from Guillain-Barré syndrome (GBS) is good in most patients, some develop permanent severe disability or even die. Early predictors would increase the likelihood to identify patients at risk for poor outcome at the acute stage, allowing them intensified therapeutic intervention. MATERI...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12927
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:We evaluated the differences in brain morphology among patients with juvenile myoclonic epilepsy according to the occurrence of absence seizures. MATERIALS AND METHODS:Twenty-one juvenile myoclonic epilepsy patients with (n = 6) and without (n = 15) absence seizures were enrolled. We analyzed whole-brain T1-...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12436
更新日期:2016-02-01 00:00:00
abstract:INTRODUCTION:Cortical blindness, a rare form of cyclosporine (CSA) neurotoxicity, has previously been described in only nine bone marrow transplant (BMT) recipients. METHODS:Our institution averages 35 allogeneic BMT's per year. In the past year we have seen two women with reversible cortical blindness secondary to CS...
journal_title:Acta neurologica Scandinavica
pub_type: 更正并重新发布的文章,杂志文章,评审
doi:10.1111/j.1600-0404.1996.tb07081.x
更新日期:1996-11-01 00:00:00
abstract::Using organotypic cultures of ICR mouse cerebellum, we studied the effects of TNF-alpha on myelin formation, and its demyelinating effects. Mature, myelinated cultures were resistant to TNF-alpha, even at the highest concentration examined, 1 x 10(4) U/ml. However, when cultures were grown in medium containing TNF-alp...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb05847.x
更新日期:1995-01-01 00:00:00
abstract:OBJECTIVES:Epstein-Barr virus (EBV) infection is associated with multiple sclerosis (MS), and EBV may transform lymphoblastoid cell lines more frequently in MS patients than controls, but it is not clear whether this reflects a higher viral load or an enhanced ability to reactivate EBV. MATERIAL AND METHODS:MS patient...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12249
更新日期:2014-08-01 00:00:00
abstract:OBJECTIVES:To explore (1) effects of test and subject variables in determining euphoric and dysphoric responses during unilateral amobarbital anesthesia and (2) which cerebral areas contribute to the emotional responses. METHOD:Incidence of euphoric and dysphoric reactions during left- and right-sided amobarbital anes...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00329.x
更新日期:2004-11-01 00:00:00
abstract:OBJECTIVE:To describe spinal epidural abscess after treatment with rituximab. METHODS:Report of a new case of cervical epidural spinal abscess after treatment with rituximab and review of the literature. RESULTS:Biologic agents are associated with an increased risk of serious infections, there are only few reports of...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12506
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:For most major antiepileptic drugs, neuropsychological side effects have been reported. Healthy volunteer studies have found that both carbamazepine and valproate impair aspects of verbal memory. OBJECTIVE:The aim of this study was to assess the effects of carbamazepine and valproate on verbal memory, in a ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1600-0404.2010.01452.x
更新日期:2011-06-01 00:00:00
abstract:OBJECTIVE:LMNB1-related autosomal dominant leukodystrophy is caused by an overexpression of the protein lamin B1, usually due to a duplication of the LMNB1 gene. Symptoms start in 5th to 6th decade. This slowly progressive disease terminates with death. We studied brain glucose metabolism in this disease using 18 F-flu...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13024
更新日期:2019-02-01 00:00:00
abstract::We reviewed the medical records and CT scans of 138 patients hospitalized for spontaneous supratentorial hemorrhage and conservatively treated. Seventeen clinico-anamnestic variables and five CT desumed findings were collected. Using univariate analysis we found eight significant predictors of 30-day mortality: intrav...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1995.tb07011.x
更新日期:1995-04-01 00:00:00