Abstract:
BACKGROUND:Pseudoxanthoma elasticum (PXE) is a monogenetic disease with progressive calcification of arteries and potential risk of stroke. To gain insights in the cerebral involvement in PXE, we evaluated prevalence and determinants of cerebral disease in our PXE cohort and performed a systematic review of literature. METHODS:Systematic history taking concerning cerebral disorders was performed in our PXE cohort. Cardiovascular risk factors were compared between PXE patients with and without cerebral disease. Additionally, Pubmed, Embase, the Cochrane Library and PsycINFO were systematically reviewed for studies published up to August 2016 about cerebral disease in PXE. RESULTS:Of the 178 PXE patients 31 (17%) had cerebral disease including ischemic stroke (n=15, 8%) or transient ischemic attack (n=13, 7%). The cerebral disease group was older (61±12 vs. 52±15years, adjusted p=0.004) and had less favorable profiles of traditional cardiovascular risk factors regarding the use of lipid lowering medication (61% vs. 31%, adjusted p=0.037) and levels of HDL-cholesterol (1.4±0.3 vs. 1.6±0.4mmol/L, adjusted p=0.005). One prospective cohort study reporting an incidence rate of ischemic stroke of 477/100,000/year and two cross-sectional studies with a reported prevalence of ischemic stroke of 14% and 0% were identified. Furthermore, 53 unique cases of cerebral disease in PXE including ischemic stroke (n=16) and transient ischemic attack (n=7) were reported. CONCLUSIONS:Physicians and patients should be aware of the prevalent occurrence of cerebrovascular disease in PXE, which further stresses the importance of strict cardiovascular risk management in these patients.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Kauw F,Kranenburg G,Kappelle LJ,Hendrikse J,Koek HL,Visseren FLJ,Mali WPT,de Jong PA,Spiering Wdoi
10.1016/j.jns.2016.12.053subject
Has Abstractpub_date
2017-02-15 00:00:00pages
167-172eissn
0022-510Xissn
1878-5883pii
S0022-510X(16)30846-2journal_volume
373pub_type
杂志文章,评审abstract::We investigated whether the reduced intramembranous particles (IMP) in the muscle plasma membrane in mdx mice reflects a preferential depletion of a particular size of the IMP. The experiments were performed using the freeze-fracture method to analyze the frequency distribution of the size of IMP, the density of ortho...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)05350-6
更新日期:1997-05-29 00:00:00
abstract:BACKGROUND:ew drugs were confirmed to be effective in the treatments of neurological dysfunction caused by acute intracerebral hemorrhage (ICH). The present prospective clinical trial aims to evaluate the effect of mouse nerve growth factor (mNGF) on neurological function in patients with acute ICH. METHODS:60 patient...
journal_title:Journal of the neurological sciences
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abstract::Here, we report the observation of extrapontine lesions, in addition to the pontine lesions previously documented in a diagnosed case of hemodialysis-associated osmotic demyelination syndrome due to end-stage renal disease. The patient exhibited lesions on bilateral middle cerebellar peduncles, and had been receiving ...
journal_title:Journal of the neurological sciences
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abstract::Ninety-four asymptomatic patients with internal carotid artery occlusion were followed for a mean of 44 months, 16% suffered strokes and 11.7% reported transient ischemic attacks (TIA). The annual stroke and TIA rates were 4.4% and 3.2%, respectively, the annual mortality was 11.3%. In 27 asymptomatic patients progres...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90262-l
更新日期:1990-09-01 00:00:00
abstract::The intercellular adhesiveness of skin fibroblasts from patients with Duchenne muscular dystrophy and normal controls has been measured by determining the collision efficencies of cells using the couette viscometer. The collision efficencies for dystrophic cells were significantly lower that those for normal cells (0....
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(79)90025-x
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abstract::We have used light microscopic histomorphometry to quantify the developmental histopathological changes induced by muscular dystrophy in the soleus and extensor digitorum longus (EDL) muscles of the mdx mouse. We find that this X-linked disease exhibits early fibre necrosis with foci of invasive cells, clustering of a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90219-x
更新日期:1987-08-01 00:00:00
abstract::Zika virus infection represents a new neuropathological agent with association to a wide spectrum of neurological complications: a) Congenital Zika Syndrome by affecting the neural stem cells of the human fetal brain; b) Guillain-Barré Syndrome by an autoimmune response against peripheral myelin and/or axonal componen...
journal_title:Journal of the neurological sciences
pub_type: 社论
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00013-8
更新日期:2002-04-15 00:00:00
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journal_title:Journal of the neurological sciences
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更新日期:2002-03-15 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(76)90237-9
更新日期:1976-01-01 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(92)90090-8
更新日期:1992-05-01 00:00:00
abstract::Recordings have been made from afferent fibres shown to traverse a focal demyelinating lesion induced in the dorsal columns of the cat by the direct micro-injection of lysophosphatidyl choline. Many fibres were spontaneously active, discharging with steady frequencies between 15 and 45 impulses per second or dischargi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(82)90168-x
更新日期:1982-07-01 00:00:00
abstract::Epidemiological and clinical studies have shown that environmental factors such as infections, smoking and vitamin D are associated with the risk of developing multiple sclerosis (MS). Some of these factors also play a role in the MS disease course. We are currently beginning to understand how environmental factors ma...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2012.10.021
更新日期:2013-01-15 00:00:00
abstract::Psychiatric disorders seem to be more frequent in patients with epilepsy (PWE) than the general population. Although researchers have documented a strong association between epilepsy and psychiatric comorbidities, the nature of this relationship is poorly understood. According to this, psychiatric diseases are often u...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
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更新日期:2014-08-15 00:00:00
abstract::The clinical, genetic and electrophysiological study of 3 patients with an association of a neuronal form of Charcot-Marie-Tooth Disease (CMTD) with a syndrome of continuous motor unit activity (CMUA) are reported, with light and electron microscopy of muscle and sural nerve biopsies in 2 patients. The unusual clinica...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(84)90105-9
更新日期:1984-01-01 00:00:00
abstract::The cause of amyotrophic lateral sclerosis is unknown. In this review clinical and scientific data that are pertinent to understanding this disease are reviewed. There are currently several major controversies concerning the possible role of immunological factors, genetic factors, environmental toxins, and viral infec...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/0022-510x(92)90258-m
更新日期:1992-11-01 00:00:00
abstract::We have previously reported reduced ability of ALS fibroblasts to repair genomic DNA damage produced by alkylating agents. This report presents our experience of studying DNA repair in lymphocytes from ALS patients. The repair of N-methylpurines produced by treatment with the alkylating agent, methyl methanesulfonate,...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90225-n
更新日期:1993-04-01 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
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doi:10.1016/j.jns.2018.12.041
更新日期:2019-02-15 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(94)90038-8
更新日期:1994-09-01 00:00:00
abstract::A case of chorea-acanthocytosis (CA) syndrome is described. The presence of acanthocytes has usually been considered an important diagnostic marker of CA. However, it is not specific and other neurological diseases have to be considered. In the present report we rule out other diagnostic possibilities and show that th...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1999-03-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2006.11.005
更新日期:2007-02-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.05.025
更新日期:2009-10-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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更新日期:1979-06-01 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2004.06.009
更新日期:2004-10-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117017
更新日期:2020-10-15 00:00:00
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journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2004-08-30 00:00:00
abstract::An epidemiological survey of multiple sclerosis (MS) in the State of Queensland was undertaken with its prevalence day being the national census day on June 30th, 1981, 20 years after a regional survey within the State. The relationship between increasing prevalence of MS and increasing south latitude within the State...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90154-7
更新日期:1987-09-01 00:00:00
abstract::Complex I (CI) is the largest component of the mitochondrial respiratory chain (MRC) and it is made up of 7 mitochondrial DNA (mtDNA)-encoded and at least 38 nuclear DNA-encoded subunits. Isolated CI deficiency is the most common single enzyme deficiency in the heterogeneous group of MRC disorders and it is a relative...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.02.010
更新日期:2019-04-15 00:00:00
abstract::Genetic, biochemical and morphological investigations were conducted on skeletal muscle mitochondria from 6 cases of ocular myopathy: 4 cases with Kearns-Sayre syndrome (KSS) and 2 with chronic progressive external ophthalmoplegia. All of these 6 cases showed mitochondrial DNA (mtDNA) deletions in addition to normal s...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(91)90042-6
更新日期:1991-02-01 00:00:00