Abstract：
:Few data exist on the effects of specific Alzheimer's disease (AD)-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant Alzheimer's disease (VarAD) due to a deletion of the presenilin 1 (PS-1) gene, encompassing exon 9. The disease was neuropathologically characterized by the presence of large, unusual, "cotton wool" plaques (CWP). Four surviving patients were prospectively tested, and retrospective neuropsychological data were collected from additional four deceased patients. The neuropsychological evaluation was based on tests of verbal and visual memory, abstract thinking, and visuoconstructive and spatial functions. In addition, psychiatric symptoms were evaluated. In four patients, brain glucose metabolism was examined by positron emission tomography (PET). PET showed temporoparietal hypometabolism typical of AD. In addition, variable patterns of hypometabolism (hemispherical asymmetry and occipital accentuation) were related to individual deficits of cognitive performance. However, all these early-onset patients (age range 43-63 years) with a deletion mutation of PS-1 gene showed prominent memory impairment and deficits in visuoconstructive and intellectual functions.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Verkkoniemi A,Ylikoski R,Rinne JO,Somer M,Hietaharju A,Erkinjuntti T,Viitanen M,Kalimo H,Haltia Mdoi
10.1016/j.jns.2003.10.020subject
Has Abstractpub_date
2004-03-15 00:00:00pages
29-37issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022510X03003253journal_volume
218pub_type
杂志文章abstract：BACKGROUND:Global cerebral ischemia followed by reperfusion, leads to extensive neuronal damage, particularly the neurons in the hippocampal CA region. Recent studies have demonstrated that pharmacological agents, such as Nigella sativa L. (Ranunculaceae) that is an annual herbaceous flowering plant, given at the time ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.019
更新日期：2014-02-15 00:00:00
abstract：:Administration of retinoic acid (RA) prevented the development of experimental allergic encephalomyelitis (EAE) in Lewis rats. RA suspended in corn oil was given for 3 days before the expected onset of the disease to rats immunized with myelin and to controls. The drug suppressed the neurological symptoms as well as t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90220-6
更新日期：1987-08-01 00:00:00
abstract：:There is significant evidence that the pathogenesis of several neurodegenerative diseases, including Parkinson's disease, Alzheimer's disease, Friedreich's ataxia (FRDA), multiple sclerosis and amyotrophic lateral sclerosis, may involve the generation of reactive oxygen species (ROS) and/or reactive nitrogen species (...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2005.03.012
更新日期：2005-06-15 00:00:00
abstract：:The risk for Alzheimer's disease (AD) is influenced by both age and ApoE status. The present study addresses the associations of age and ApoE status on complex pathologic features in AD (n=81) including coexistent cerebrovascular disease (CVD), argyrophilic grain disease (AGD), and Lewy body disease (LBD). The frequen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.06.008
更新日期：2008-10-15 00:00:00
abstract：:Advanced MRI studies demonstrated several diffuse non-lesional features in multiple sclerosis, including changes detectable in gray matter areas. Standard T2 weighted MRI scans of deep gray matter structures, including the thalamus, caudate, putamen, dentate nuclei often demonstrate hypointensity. T2 hypointensity has...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.12.013
更新日期：2009-07-15 00:00:00
abstract：:We have compared plasma redox status of coenzyme Q-10 in 20 sporadic amyotrophic lateral sclerosis (sALS) patients with those in 20 healthy age/sex-matched controls. A significant increase in the oxidized form of coenzyme Q-10 (sALS=109.3+/-95.2 nM; controls=23.3+/-7.5 nM, P=0.0002) and in the ratio of oxidized form o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.09.030
更新日期：2005-01-15 00:00:00
abstract：INTRODUCTION:The aim of the present systematic review and meta-analysis was to compare the reported ADC values in different meningiomas and to analyze associations between ADC and cell count and proliferation activity in this tumor entity. METHOD:MEDLINE library and SCOPUS database were screened for papers investigati...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116975
更新日期：2020-08-15 00:00:00
abstract：OBJECTIVES:To characterize the clinical, demographic and epidemiological features of MS patients from the only specialised MS centre in Iraq. METHODS:Data for consecutive Iraqi MS patients attending the Baghdad Multidiscipline MS Clinic between 2000 and 2002 who fulfilled Poser et al. criteria for clinically definite ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.03.033
更新日期：2005-07-15 00:00:00
abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by the involvement of cerebral small arteries. Although cerebral large artery disease has been reported in CADASIL patients, the prevalence and location of relevant cerebral arterial disease ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.029
更新日期：2015-12-15 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90127-2
更新日期：1978-12-01 00:00:00
abstract：:A 66-year-old man presented with right cerebellar infarction and ischemic lesions in the left dorsal thalamus and right upper parietal lobe. Angiography showed occlusion of the right internal carotid artery proximal to an ipsilateral proatlantal artery type I, 70% stenosis of the left internal carotid artery, and apla...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(93)90178-2
更新日期：1993-07-01 00:00:00
abstract：:To elucidate the T helper 1 (Th1)/T helper 2 (Th2) balance in various inflammatory neuropathies, we measured the ratio of intracellular interferon-gamma (IFN-gamma)-positive to IL-4-positive cells (intracellular IFN-gamma/IL-4 ratio) by flow cytometry in peripheral blood CD4(+) T cells of 14 patients with mononeuritis...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00603-7
更新日期：2001-12-15 00:00:00
abstract：:Despite availability of harmonized criteria for the investigation of patients with presumed "vascular cognitive impairment (VCI)" there exists no clear definition of VCI. The challenge lies in the definition of those vascular components being responsible for the cognitive-behavioural decline of elderly patients. We ad...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.08.031
更新日期：2010-12-15 00:00:00
abstract：BACKGROUND:Myasthenia gravis (MG) is the autoimmune disorder in which the thymus is considered the pathogenic organ. Thymectomy (TE) is a therapeutic option for MG and often ameliorates clinical symptoms. METHODS:We evaluated clinical features and outcomes after TE in patients without thymoma and the influence of TE w...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.08.029
更新日期：2015-11-15 00:00:00
abstract：:The brain constitutes an environment that is specifically designed to accommodate, regulate and shape immune responses. On one hand, the central nervous system (CNS) has traditionally been regarded as an immunologically privileged organ, owing to local tissue barrier and immunosuppressive microenvironment. On the othe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(98)00049-5
更新日期：1998-04-15 00:00:00
abstract：:The authors describe an unusual case of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without leg spasticity, which is a core clinical feature of ARSACS. This is the second family with a spasticity-lacking phenotype in ARSACS. A peripheral nerve conduction study disclosed decreases in motor and se...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.02.002
更新日期：2007-04-15 00:00:00
abstract：:We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic. Histochemical ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90116-7
更新日期：1976-08-01 00:00:00
abstract：:The inflammation plays a critical role in the stroke onset and even in the worsening of the lesions. Therefore, the investigation of inflammatory response in the acute stage may contribute to improve the treatment of ischemic stroke. High-sensitive CRP (hsCRP), IL-6 and TNFalpha were measured as inflammatory markers o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.03.020
更新日期：2008-08-15 00:00:00
abstract：:An expanded hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72), on chromosome 9p21, has recently been identified as a major cause of familial frontotemporal dementia (FTD). The neuropathology and clinical characteristics associated with C9ORF72 mutations are heterogeneous with the unknown pathom...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2013.09.013
更新日期：2013-12-15 00:00:00
abstract：:Falls are common in Parkinson's disease. It remains difficult to predict these falls, presumably because clinical balance tests assess single components of postural control, whereas everyday fall mechanisms are typically more complicated. A substantial proportion of everyday falls appears to occur while Parkinson pati...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2006.05.010
更新日期：2006-10-25 00:00:00
abstract：:Nineteen patients with Motor Neurone Disease (MND) who had been living with their partners for at least two years prior to the onset of their illness, together with their partners, completed self-report questionnaires to investigate the impact of MND on both patients and carers. Physical disability and impact of the i...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00209-3
更新日期：1998-10-01 00:00:00
abstract：BACKGROUND:Recently, PRRT2 gene mutations have been identified as a causative factor of paroxysmal kinesigenic dyskinesia (PKD). However, evidence is still lacking with respect to the genotype to phenotype correlation in PKD patients. METHODS:We recruited a cohort of PKD patients with or without PRRT2 mutations for th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.02.034
更新日期：2014-05-15 00:00:00
abstract：:The fibre composition of functionally different regions, the superficial and the deep portions, of the human masseter and the biceps brachii muscles of six elderly subjects (mean age 74 years) was studied by morphological and enzyme-histochemical methods. When compared to previous data for young adults, the masseter m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(97)00208-6
更新日期：1998-01-21 00:00:00
abstract：:In this paper we review the findings of magnetic resonance imaging (MRI) in optic neuritis and visual dysfunction due to other optic neuropathies. With advances in MRI technology, it has become possible to visualise optic nerve pathology. STIR and RARE sequences, contrast-enhanced sequences, and phased array surface c...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(99)00272-5
更新日期：2000-01-15 00:00:00
abstract：OBJECTIVES:Several studies have established the relevance of S-100 in blood as a marker of brain damage after traumatic brain injury. However, a more specific marker is required and glial fibrillary acidic protein (GFAP) is considered to be a good candidate. METHODS:In order to assess the increase of GFAP in serum (s-...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2005.09.007
更新日期：2006-01-15 00:00:00
abstract：:The acute effect of a single intraperitoneal dose of alcohol (2 g kg-1 body weight) was studied in normally fed rats anaesthetised with sodium pentabarbitone . Rapidly achieved high blood alcohol levels were accompanied by an equally rapid but transient 4-fold increase in the total creatine kinase (CK) activity in the...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(84)90153-9
更新日期：1984-03-01 00:00:00
abstract：:Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, predominantly, but not exclusively, involving the normal appearing white matter. Until very recently we believed that nervous dysfunction in MS was completely depending on the accumulation of lesions in the white matter of the CNS. As a ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.09.001
更新日期：2008-02-15 00:00:00
abstract：INTRODUCTION:Whether motor neuron diseases (MNDs) can be considered in some cases of paraneoplastic syndromes is controversial. We report a case of rapidly progressive motor neuronopathy following a diagnosis of breast carcinoma, with a presence of anti-Ri antibodies, and a novel SOD1 gene mutation. OBSERVATION:An 80-...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.025
更新日期：2014-02-15 00:00:00
abstract：:Formation of protein aggregation is considered a hallmark feature of various neurological diseases. Amyotrophic lateral sclerosis is one such devastating neurodegenerative disorder characterized by mutation in Cu/Zn superoxide dismutase protein (SOD1). In our study, we contemplated the most aggregated and pathogenic m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.116425
更新日期：2019-10-15 00:00:00
abstract：:The concept of Vascular Cognitive Impairment (VCI) encompasses patients across the entire continuum of cognitive impairment resulting from cerebrovascular disease (CVD), ranging from high-risk patients with no frank cognitive deficit (the "brain-at-risk" stage) through vascular dementia (VaD). There are accepted diffe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2004.09.002
更新日期：2004-11-15 00:00:00
