Abstract:
:Although peroxisomes were initially believed to play only a minor role in mammalian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism. The metabolic pathways in which peroxisomes are involved include the biosynthesis of ether phospholipids and bile acids, the oxidation of very long chain fatty acids, prostaglandins and unsaturated long chain fatty acids and the catabolism of phytanate and (in man) pipecolate and glyoxylate. The importance of peroxisomes in cellular metabolism is stressed by the existence of a group of inherited diseases, the peroxisomal disorders, caused by an impairment in one or more peroxisomal functions. In the last decade our knowledge about peroxisomes and peroxisomal disorders has progressed enormously and has been the subject of several reviews. New developments include the identification of several additional peroxisomal disorders, the discovery of the primary defect in several of these peroxisomal disorders, the recognition of novel peroxisomal functions and the application of complementation analysis to obtain information on the genetic relationship between the different peroxisomal disorders. The peroxisomal disorders recognized at present comprise 12 different diseases, with neurological involvement in 10 of them. These diseases include: (1) those in which peroxisomes are virtually absent leading to a generalized impairment of peroxisomal functions (the cerebro-hepato-renal syndrome of Zellweger, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidaemia); (2) those in which peroxisomes are present and several peroxisomal functions are impaired (the rhizomelic form of chondrodysplasia punctata, combined peroxisomal beta-oxidation enzyme protein deficiency); and (3) those in which peroxisomes are present and only a single peroxisomal function is impaired (X-linked adrenoleukodystrophy, peroxisomal thiolase deficiency (pseudo-Zellweger syndrome), acyl-CoA oxidase deficiency (pseudo-neonatal adrenoleukodystrophy) and probably, the classic form of Refsum disease.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Wanders RJ,Heymans HS,Schutgens RB,Barth PG,van den Bosch H,Tager JMdoi
10.1016/0022-510x(88)90203-1subject
Has Abstractpub_date
1988-12-01 00:00:00pages
1-39issue
1-3eissn
0022-510Xissn
1878-5883pii
0022-510X(88)90203-1journal_volume
88pub_type
杂志文章,评审abstract::The present study was performed to investigate the effects of Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) antisense oligodeoxynucleotides (ODNs) on the assembly of the CaMKII·GluR6·PSD-95 signaling module, GluR6 serine phosphorylation and c-Jun N-terminal kinase 3 (JNK3) activation. A further aim was to det...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.10.012
更新日期:2012-03-15 00:00:00
abstract::Superficial siderosis (SS) of the central nervous system is a rare disorder caused by chronic or recurrent hemorrhages into the subarachnoid space with hemosiderin and ferritin deposition, which leads to neuronal damage. The source of bleeding remains unknown in 50% of cases. Recently, attention has been focused on fl...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.07.034
更新日期:2012-01-15 00:00:00
abstract:BACKGROUND AND PURPOSE:Patent foramen ovale (PFO) can be diagnosed by contrast-enhanced transcranial Doppler (cTCD), but no definitive criteria exist to correlate the results obtained from cTCD with diagnoses of PFO obtained by contrast-enhanced transesophageal echocardiography (cTEE). The aim of the present study was ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.02.003
更新日期:2010-06-15 00:00:00
abstract:BACKGROUND:The differentiation of intracranial atherosclerosis (ICAS) and embolism is important. OBJECTIVE:In cases of ICAS, we observe a phenomenon that we call the "post-stent-deployment effect"; that is, all major branches are clearly visible beyond the occlusion segment when the stent is deployed at the site of oc...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.116957
更新日期:2020-09-15 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:OBJECTIVE:We carried out a meta-analysis focusing on the relationships between rs1137070 C>T and rs1799836 A>G polymorphisms in the MAO gene as a modifier of Parkinson disease (PD) susceptibility. METHOD:A literature search of the Cochrane Library Database, Web of Science, PubMed, CINAHL, EMBASE, and the Chinese Biome...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2014.07.016
更新日期:2014-10-15 00:00:00
abstract::Human carnitine palmitoyltransferase (CPT) deficiency results in 2 clinical forms: a more common "muscular form" with myoglobinuria with or without delayed or impaired ketogenesis and a rare "hepatic form" with hypoketotic hypoglycemia, encephalopathy and seizures without muscular manifestations. We present 2 patients...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90139-1
更新日期:1989-09-01 00:00:00
abstract::The Trembler mouse suffers from a dominantly inherited hypertrophic neuropathy. Electron microscopy, including a quantitative analysis of myelination was performed on the nerves of Trembler mice from birth to senility and compared with the findings in control mice. Axons in adult Trembler nerves were thinly myelinated...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90139-8
更新日期:1976-12-01 00:00:00
abstract::Prefrontal corticofugal systems, as studied with anterograde HRP histochemistry, revealed projections to preoculomotor and oculomotor centers in the diencephalon and brainstem which may underlie direct cortical influence on eye movement. Because of the location of these preoculomotor trajectories, stimulation and lesi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(81)90029-0
更新日期:1981-03-01 00:00:00
abstract::Hemichorea associated with carotid artery occlusive disease is extremely rare. It has been recently suggested that carotid artery stenosis should be considered in the differential diagnosis of chorea, even in the absence of a preceding stroke or transient ischemic attack. Although the pathophysiology of this condition...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.08.068
更新日期:2011-01-15 00:00:00
abstract:BACKGROUND:Cognitive impairment is frequent in multiple sclerosis (MS). Tissue-specific atrophy measures have been shown to correlate with cognitive performance in several studies. Voxel-based morphometry (VBM) aims to identify regional differences in the local composition of brain tissue and makes possible to correlat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.12.019
更新日期:2009-07-15 00:00:00
abstract::In a prospective study, we analysed the presence of monoclonal immunoglobulin (moIg) in the serum from 30 patients with amyotrophic lateral sclerosis (ALS) and 30 matched controls using a sensitive Western blot technique. The incidence of serum moIg was 60% in the ALS group and 13.3% in the control group. Most ALS ser...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(91)90220-2
更新日期:1991-07-01 00:00:00
abstract::The volume of the lumbar sac measured in 4 subjects was found to be 15.5 ml. Exactly 15 ml of lumbar cerebrospinal fluid (L-CSF) was permitted to flow freely out during a lumbar puncture in 20 neurological patients and small samples of the L-CSF were collected in the beginning (sample 1), at the middle (sample 2), and...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90103-4
更新日期:1977-03-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Recently, a genome-wide association study revealed a significant statistical association between LINGO1 rs9652490 and rs11856808 polymorphisms and the risk of developing essential tremor (ET) in Icelandic people. Because the results of further association studies were controversial, we conducted a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2012.02.030
更新日期:2012-06-15 00:00:00
abstract::We describe a case of a 50-year-old man with bilateral shoulder girdle weakness caused by anterior subdural hygroma secondary to a previous spontaneous CSF leak. The CSF leak occurred and resolved 16 years prior to presenting with a 6-year progressive painless, asymmetric proximal muscle weakness involving both upper ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.02.029
更新日期:2011-06-15 00:00:00
abstract::We present a patient with Parkinson's disease whose bilateral tremor transiently resolved after a unilateral left ventrolateral thalamotomy. The transient resolution of the bilateral tremor was associated with a focal thalamic lesion and a second lesion in the corpus callosum. The mechanism of this phenomenon may be r...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)00236-h
更新日期:1995-03-01 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
abstract:BACKGROUND:The Oxfordshire Community Stroke Project (OCSP) classification is a simple tool to categorize clinical stroke syndromes. We compared the outcomes of stroke patients after intravenous thrombolysis stratified by the baseline National Institutes of Health Stroke Scale (NIHSS) score or by the OCSP classification...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.10.003
更新日期:2013-01-15 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::Event-related potentials (ERPs) generated during the performance of visual discrimination tasks were studied in 31 patients with Parkinson's disease, 9 patients with Alzheimer's disease, and 37 normal control subjects. Actively and passively evoked P3 components (P3b and P3a) were respectively identified as the compon...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(92)90061-o
更新日期:1992-09-01 00:00:00
abstract::The study is designed to assess the oxidative stress intensity in erythrocytes obtained from patients in different clinical phenotypes of neuroinflammation, defined as clinically isolated syndrome (CIS) and relapsing-remitting multiple sclerosis (RRMS). Advanced oxidation protein products (AOPP), malondialdehyde (MDA)...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.11.006
更新日期:2014-02-15 00:00:00
abstract::(1) Micro-electrode recordings of multi-unit sympathetic activity were attempted in skin or muscle branches of the peroneal nerve at the fibular head and the median nerve at the elbow in 41 patients with polyneuropathy of different causes. An indirect measure of sympathetic conduction velocity was obtained by determin...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90099-4
更新日期:1980-09-01 00:00:00
abstract::Lower limb neuropathic pain in HIV patients is a common manifestation of sensory neuropathy (HIV-SN), but can be seen in patients who do not meet standard definitions of HIV-SN. The drug stavudine is a risk factor for HIV-SN, but some patients treated without stavudine experience HIV-SN, and the prevalence and risk fa...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2018.12.041
更新日期:2019-02-15 00:00:00
abstract::The clinical value and practical application of the lumbosacral evoked electrospinogram (Espg) and somatosensory cerebral evoked potentials (SEP) were investigated in 52 patients with conus medullaris or cauda equina lesions. It was shown that the destruction or compression of the conus/cauda equina region by traumati...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90113-6
更新日期:1980-12-01 00:00:00
abstract::In 1977 and 1978 Cook and his associates demonstrated a positive association between ownership of small dogs and both familial and sporadic cases of multiple sclerosis in New Jersey. Because of the far reaching implications of this work, a similar study was carried out and 72 patients with clinically definite multiple...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(82)90133-2
更新日期:1982-09-01 00:00:00
abstract::This study indicates the impact of nicotine and pesticides (organochlorine and organophosphate insecticides used in agriculture) on neuronal α7-nicotinic acetylcholine receptor expression in brainstem regions receiving cholinergic projections in human perinatal life. An in-depth anatomopathological examination of the ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.11.014
更新日期:2015-01-15 00:00:00
abstract::We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to col...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.12.021
更新日期:2015-02-15 00:00:00
abstract:BACKGROUND:Postural instability is often experienced in the late stages of PD and is a marker of disease progression. Little information is available on the role of visual inputs as an adaptive strategy to compensate for postural instability in PD. The purpose of this study was to determine visual dependency for postur...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.01.022
更新日期:2015-02-15 00:00:00
abstract::We have used a mouse model of herpes simplex encephalitis produced by intranasal inoculation of virus to study the expression of viral immediate early, early and late genes and latency associated transcript (LAT) in trigeminal ganglia and brain at various times after inoculation. A PCR technique was used to detect the...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90068-x
更新日期:1994-12-20 00:00:00
abstract:OBJECTIVES:Ultra high field MRI at 7T is able to provide much improved spatial and contrast resolution which may aid in the diagnosis of hippocampal abnormalities. This paper presents a preliminary experience on qualitative evaluation of 7T MRI in temporal lobe epilepsy patients with a focus on comparison to histopatho...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.07.066
更新日期:2016-10-15 00:00:00