Abstract:
:A Finnish family is described with 9 cases of presenile dementia in 3 generations. The mean age at onset was 52 years (range 46--62 years). Progressive dementia, upper motor neuron signs, muscular rigidity, and twitching, irregular tremors were consistent features in the 6 clinically investigated patients and were associated with spongiform change in the cerebral cortex of one autopsy and two brain biopsy cases. The EEG showed progressive slowing without the occurrence of repetitive high-voltage complexes at any stage of the disease. The average duration of the disease (21 months, range 11--36 months) was longer than in the sporadic form of CJD. The occurrence of CJD within this family follows a pattern consistent with an autosomal dominant mode of inheritance, suggesting the possibility of vertical transmission of the presumptive causative agent for example by genomic integration or transplacental passage. However, the occurrence of the disease only through the paternal line of relationships and the presence of a discordant twin pair argue strongly against transplacental passage or transmission via mother's milk. Simple contact infection also seems unlikely, as conjugal cases were not found among the 7 married patients. The interval between the death of the last affected member in generation IV and the time of onset of the disease in the first affected member of generation V was 10 years. Thus setting a minimum incubation period if case-to-case transmission were occurring. To evaluate the role of a genetically determined susceptibility to infection studies on the HLA antigens and other genetic markers are in progress.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Haltia M,Kovanen J,Van Crevel H,Bots GT,Stefanko Sdoi
10.1016/0022-510x(79)90171-0subject
Has Abstractpub_date
1979-08-01 00:00:00pages
381-9issue
3eissn
0022-510Xissn
1878-5883pii
0022-510X(79)90171-0journal_volume
42pub_type
杂志文章abstract::Although control of hypertension is established as an important factor in the primary and secondary prevention of stroke, management of blood pressure in the setting of acute ischemic stroke remains controversial. Given limited data, the general consensus is that there is no proven benefit to lowering blood pressure i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.04.033
更新日期:2007-10-15 00:00:00
abstract:BACKGROUND AND AIMS:Both vascular disease and diabetes type 2 (DM2) decrease cognitive functioning in elderly people. It is uncertain if DM2 affects cognition independent of vascular disease. In patients with symptomatic arterial disease, we studied the effect of DM2 on cognition and identified clinical and radiologica...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.02.337
更新日期:2009-08-15 00:00:00
abstract::Coronal images of position emission tomography (PET) by 18F-labelled deoxyglucose reconstructed from interpolated scan in Alzheimer's disease clearly indicated suppression of glucose metabolism in the parietal lobe and lateral part of the temporal lobes, compared to normal controls. The medial part of the temporal lob...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(91)90249-7
更新日期:1991-12-01 00:00:00
abstract::The effects of dantrolene sodium, an anti-spasticity drug with a site of action within the muscle fibres, were studied in 19 patients with spastic paresis. Oral doses were successively increased from 100 mg/day to a maximal tolerated level or up to 800 mg/day. Trial periods were 8-13 weeks. The responses of stretch re...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90171-4
更新日期:1976-10-01 00:00:00
abstract:BACKGROUND:Data on the determinants and outcome of ischemic stroke (IS) from the Arabian Gulf countries (AGC) are still scanty. The aim of this study was to characterize IS in six large stroke centers on the Arabian peninsula. METHODS:IS subtypes were evaluated in four AGC from January 2006 to December 2007 in a large...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.08.023
更新日期:2011-01-15 00:00:00
abstract:OBJECTIVE:Stiff person syndrome (SPS) is usually characterized by truncal muscle rigidity and episodic painful spasms, but it sometimes appears with ocular symptoms called "stiff eyes". We recorded saccade movements in an SPS patient manifesting with "stiff eyes" conditions with slow saccade velocity and evaluated the ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.116506
更新日期:2020-01-15 00:00:00
abstract:BACKGROUND:Neutrophil/lymphocyte ratio (NLR) has been associated with poor outcomes in patients with cardiovascular diseases. However, little is known about the role of NLR in patients with thromboembolic stroke due to atrial fibrillation (AF). We aimed to compare the NLR ratios between non-valvular AF patients with or...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.09.032
更新日期:2013-01-15 00:00:00
abstract:PURPOSE:Among different seizure types, tonic-clonic seizures are more significant because they are more often associated with morbidity. No prior study has been done to investigate risk factors associated with tonic-clonic seizures in patients with mesial temporal epilepsy. METHODS:In this retrospective study, all dru...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.10.022
更新日期:2015-12-15 00:00:00
abstract::Over two decades, a 42-year old woman experienced the gradual onset of choreic involuntary movements, dystonia, and tics. Decreased caudate nucleus metabolism on 2-deoxyglucose PET scan and a heterozygous 49-CAG repeat expansion within the HTT gene established the diagnosis of HD, although no other family history was ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.08.034
更新日期:2012-12-15 00:00:00
abstract::Myotonic dystrophy type 1 (DM1), an autosomal dominant disease characterized by a CTG expansion in the 3' region of the DMPK gene in chromosome 19, is a highly heterogeneous disease. In this study, we present a family with early onset-classical type DM, and a homogeneous phenotype highlighted by severe neuromuscular s...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00442-2
更新日期:2003-04-15 00:00:00
abstract::To distinguish the different origins of cervical N13 potentials in median nerve somatosensory evoked potentials (SSEPs), cervical N13 potentials were recorded by two different montages. The abnormal patterns of the SSEPs were compared to the abnormal evoked spinal cord responses (ESCPs) recorded from posterior epidura...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(01)00509-3
更新日期:2001-06-15 00:00:00
abstract::Cerebral gliomas may cause a reduction of glucose metabolism in the cerebellum contralateral to the tumor side (crossed cerebellar diaschisis, CCD). We investigated whether CCD is related to tumor localization, histological grade, size and tumor biochemistry. Cerebellar glucose metabolism was measured in 44 glioma pat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(98)00019-7
更新日期:1998-01-01 00:00:00
abstract::We evaluated the efficacy of low-dose, add-on therapy of CLB in adults with refractory epilepsy. 28 patients were included: 12 with temporal lobe epilepsy (TLE), 14 with extratemporal lobe epilepsy (ETLE) and 2 with symptomatic generalized epilepsy (SGE). CLB was added with the initial dose of 2.5 mg/day and increased...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2007.05.025
更新日期:2007-12-15 00:00:00
abstract:BACKGROUND:Cerebrovascular reactivity (CVR) is defined as the change in cerebral blood flow, or blood velocity, in response to a vasoactive stimulus. There is a possible association between impaired CVR and vasospasm after aneurysmal subarachnoid hemorrhage. Most studies on CVR and vasospasm have used healthy subjects ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.12.024
更新日期:2016-04-15 00:00:00
abstract::There is little information available on the number of patients with movement disorders seen by physicians in Thailand. The authors reviewed the medical records of all movement disorders patients seen at the Chulalongkorn Comprehensive Movement Disorders Center (CUMDS) in Bangkok, Thailand over a 4.5-year period to de...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.11.010
更新日期:2011-02-15 00:00:00
abstract::Adenylate kinase 5 (AK5) is one member of the AK family and plays a critical role in maintaining cellular homeostasis. Different from the other AKs, AK5 is almost exclusively expressed in the brain. However, its exact biological functions remain unclear. The aim of the present study is to explore the expression patter...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.04.037
更新日期:2016-07-15 00:00:00
abstract::The size and the distribution of type I and tye II fibres was determined in the gluteus maximus (21 cases), gluteus medius (56 cases) and tensor faciae latae (27 cases) muscles of patients with osteoarthritis of the hip. The patients were of both sexes, aged between 37 and 64 years (younger group) and between 65 and 7...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90123-9
更新日期:1980-01-01 00:00:00
abstract::Gulf War veterans meeting criteria for Haley Syndrome 2 of Gulf War illness endorse a particular constellation of symptoms that include difficulty with processing information, word-finding, and confusion. To explore the neural basis of their word-finding difficulty, we assessed event-related potentials (ERPs) associat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.12.023
更新日期:2017-02-15 00:00:00
abstract:OBJECTIVE:HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) can progress slowly or rapidly even though a set of symptoms such as spastic paraparesis with pathological reflexes and sweating loss of the lower extremities are commonly observed in patients. Although most of the patients are thought to be ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.10.030
更新日期:2016-12-15 00:00:00
abstract::Increased resistance to ischemic nerve conduction failure (RINCF) has been demonstrated in the spontaneously diabetic BB Wistar rat as well as in non-insulin dependent but hyperglycemic litter-mates. There is marked variability in the severity of the ischemic resistance in insulin dependent rats but not in the non-ins...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90161-5
更新日期:1989-10-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.jns.2017.11.009
更新日期:2018-01-15 00:00:00
abstract::We report a case with genetically confirmed hereditary diffuse leukoencephalopathy with spheroids with distinctive MRI features. A 52-year-old woman with a family history of juvenile dementia presented with an 18-month history of progressive cognitive decline. Longitudinal magnetic resonance imaging studies of the bra...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.08.027
更新日期:2013-12-15 00:00:00
abstract::To investigate the underlying basis for the selective modulation of the permeability of the blood-brain barrier by small doses of bradykinin, we first established cell lines of rat brain microvascular endothelial cells (BMECs) and astrocytes by primary cultures from neonatal rats. BMECs, astrocytes and C6 glioma cells...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.02.031
更新日期:2007-07-15 00:00:00
abstract::The pathogenic mechanism underlying the vascular changes in Binswanger's encephalopathy (BE) is unknown. To test whether alterations of the humoral immunity may lead to endothelium damage, we analyzed serum levels of anti-brain endothelium antibodies (ABEA) (IgG and IgM) in 16 BE patients, 19 subjects with ischemic va...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(94)00215-a
更新日期:1995-01-01 00:00:00
abstract::Ophthalmological examination and visual evoked responses (VERs) were repeated at 6-120 (mean 46) months after the first attack of acute optic neuritis in 80 patients who had abnormal VERs in 98 symptomatic eyes at the initial examination. The wide field VER returned to within the normal range in 19/98 (19%) symptomati...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(86)90075-4
更新日期:1986-10-01 00:00:00
abstract::The predictive value of serum cortisol level on the prognosis in acute brain infarction of the carotid circulation territory was studied in 101 patients younger than 70 years. The levels of 7 a.m. and 7 p.m. serum cortisol were measured initially and at 1 week. All patients underwent a computed cerebral tomography (CT...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90083-b
更新日期:1993-05-01 00:00:00
abstract::Nicardipine is a dihydropyridine-type Ca(2+) channel blocker (CCB) with strong antihypertensive activity and with a peculiar cerebrovascular profile. This paper has reviewed the main controlled clinical studies on nicardipine in pathologies associated with cerebrovascular impairment. Subarachnoid haemorrhage (SAH) is ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2009.02.335
更新日期:2009-08-15 00:00:00
abstract:OBJECTIVES:To show that EEG markers formed using the variable percent recurrence reliably quantified two related aspects of sleep quality, sleep depth and sleep fragmentation. As hypotheses, the depth marker would increase and the fragmentation marker decrease in patients where improved sleep quality occurred when asse...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.04.019
更新日期:2013-08-15 00:00:00
abstract:INTRODUCTION:Age of onset modifiers are of considerable importance in Alzheimer's and related dementias. Arboleda-Valesquez et al., reporting on a single PSEN1 subject, suggested that homozygosity for the Christchurch variant of APOE could represent such a modifier. METHODS:We studied APOE Christchurch and Kloth-VS ge...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117143
更新日期:2020-11-15 00:00:00
abstract:BACKGROUND:Olfactory identification impairment in amnestic mild cognitive impairment (aMCI) patients is well documented and considered to be caused by underlying Alzheimer's disease (AD) pathology, contrasting with less clear evidence in non-amnestic MCI (naMCI). The aim was to (a) compare the degree of olfactory ident...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.01.014
更新日期:2015-02-15 00:00:00