Abstract：
BACKGROUND:To evaluate the presence of ischemic and hemorrhagic lesions in brain MRI of patients with Fabry disease (FD). METHODS:Brain MRI studies in 46 consecutive patients were evaluated using classic sequences as well as GRE-weighted images, for ischemic lesions and chronic microbleed detection. Of the 36 adult patients (15 males, mean age 31.2 years; 21 females, mean age 41.6 years). All had signs or symptoms of FD but lacked history of stroke or TIA. RESULTS:Ten patients under 20 years of age initially presented a normal MRI. One child developed a hyperintense occipital lesion on T2-weighted imaging during control MRI. Sixteen adult patients (44.4%) had brain MRI evidence of small vessel disease in the basal ganglia, corona radiata, thalamus or brainstem, as well as in the periventricular white matter. Patients with MRI abnormalities were older (45.6 vs 30.9 years, p=0.005), with more vascular risk factors (1.2 vs 0.6 p=0.043). Three women (mean age 59.5 years) presented deep chronic microbleeds identified by GRE. Moreover, Flair and T2-weighted images revealed white matter disease and deep gray matter involvement. CONCLUSION:44.4% of adult patients with FD without clinical history of CVA or prior dialysis had evidence of small vessel disease on MRI and 11% showed cerebral microbleeds. FD is a treatable disorder that should be routinely included in the differential diagnosis of ischemic and microhemorrhagic lesions in young adults.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Reisin RC,Romero C,Marchesoni C,Nápoli G,Kisinovsky I,Cáceres G,Sevlever Gdoi
10.1016/j.jns.2011.03.020subject
Has Abstractpub_date
2011-06-15 00:00:00pages
41-4issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(11)00130-4journal_volume
305pub_type
杂志文章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：:A rapidly progressive motor-dominant neuropathy associated with IgM monoclonal antibody against gangliosides with disialosyl residues, GD3, GD1b, GT1b, and GQ1b, in a 60-year-old Japanese man with mantle cell lymphoma is reported. Plasma exchange and chemotherapy for mantle cell lymphoma were performed for the neuropa...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.026
更新日期：2014-02-15 00:00:00
abstract：:A procedure for placing a crush lesion in the sciatic and tibial nerve of the rat based on anatomical landmarks is described. These crush lesions are used to study the process of regeneration of peripheral nervous tissue and the beneficial effects of melanocortins on speed and quality of nerve regeneration. A new prec...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90109-7
更新日期：1986-07-01 00:00:00
abstract：BACKGROUND:In the diagnostic work-up of young stroke patients angiography is still considered as mandatory to identify otherwise undetected causes of stroke. We hypothesized that stroke cause is more heterogeneous among patients with a territorial infarct, whereas in lacunar stroke it is generally small vessel disease....
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.04.007
更新日期：2004-07-15 00:00:00
abstract：:Three of 4 adult patients with Marinesco-Sjögren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non-ambulant because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typical for MSS: bilateral cataracts from infancy, m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90010-5
更新日期：1989-01-01 00:00:00
abstract：:We have analyzed the serum from patients with refractory epilepsy for the presence of autoreactive antibodies to AMPA glutamate receptor subunits. The presence and the level of autoantibodies were assessed using immunoblot and ELISA with synthetic peptides specific for subregions of AMPA glutamate receptor subunits. P...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(97)00150-0
更新日期：1997-11-06 00:00:00
abstract：:Parkinson's disease (PD) is a common disorder of the central nervous system in the elderly. The pathogenesis of PD is a complex process, with genetics as an important contributing factor. This factor may stem from mitochondrial gene variations and mutations as well as from nuclear gene variations and mutations. More r...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2014.07.067
更新日期：2014-11-15 00:00:00
abstract：:In an attempt to obtain insight into the pathogenesis of proteolipid apoprotein (PLP)-induced experimental allergic encephalomyelitis (EAE) in Lewis rats (Yamamura et al. 1986), PLP-sensitized lymph node cells or spleen cells were passively transferred into normal or irradiated (400 rad) recipients after incubation wi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90174-7
更新日期：1986-12-01 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：:Quantitative analysis of motor unit potentials (MUPs) with spike triggering and averaging was performed from the mildly affected brachial biceps muscle of 18 patients with amyotrophic lateral sclerosis (ALS) and of 18 age-matched controls. The total MUP duration was only 6% higher in ALS patients than in controls (P l...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90242-f
更新日期：1990-02-01 00:00:00
abstract：INTRODUCTION:The B-cell chemoattractant CXCL13 has been suggested as a cerebrospinal fluid (CSF) biomarker for Lyme neuroborreliosis (LNB). Our aim was to substantiate the value of CXCL13 in a large unselected cohort and determine a practical cut-off value to diagnose LNB. METHODS:We retrospectively studied clinical a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116843
更新日期：2020-07-15 00:00:00
abstract：:We treated a female patient with West syndrome caused by thiamine-responsive pyruvate dehydrogenase complex (PDHC) deficiency. Infantile spasms occurred in association with elevated blood and CSF lactate concentrations; these symptoms disappeared when lactate concentrations had been lowered by treatment with concomita...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/s0022-510x(99)00250-6
更新日期：1999-12-01 00:00:00
abstract：:We herein report a 12-year-old girl with a basal ganglia germinoma who presented with right-sided hemiparesis after a minor head trauma. Magnetic resonance (MR) imaging revealed a minimally enhanced lesion involving the left putamen, thalamus, and corona radiata. The lesion showed low-signal intensity on T1-, and high...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.02.006
更新日期：2008-07-15 00:00:00
abstract：INTRODUCTION:In many parts of the developing world, access to physician consultation and neurologic expertise is limited or nonexistent. We conducted a survey among non-physician, primary healthcare workers (PHCWs) to determine the neurological needs and services in rural Zambia. METHODS:Semi-structured written questi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00132-6
更新日期：2002-08-15 00:00:00
abstract：OBJECTIVE:GM1 ganglioside has been suggested as a treatment for Parkinson's disease (PD), potentially having symptomatic and disease modifying effects. The current pilot imaging study was performed to examine effects of GM1 on dopamine transporter binding, as a surrogate measure of disease progression, studied longitud...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2015.06.028
更新日期：2015-09-15 00:00:00
abstract：:The Purkinje cell densities in the cerebellar vermis were determined in 31 male alcoholics and 34 non-alcoholic controls under 70 years of age. In addition, all cases were examined histologically for atrophy of the superior vermis. All analyses were performed independently of each other and on randomized slides. The a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90049-3
更新日期：1986-08-01 00:00:00
abstract：:The significance of P300 in investigation of the cognitive changes characteristic of aging and dementia is well established. But some controversies about sensitivity and specificity of P300 latency prolongation in detection of dementia still exist, and its predictive value and specificity in "real" clinical situations...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(95)00093-h
更新日期：1995-08-01 00:00:00
abstract：:Deficient activity of human lysosomal hydrolase, acid sphingomyelinase (ASM), results in the neuronopathic (type A) and non-neuronopathic (type B) forms of Niemann-Pick disease (NPD). A deficiency of ASM is known to deprive lymphoblasts of their response to apoptotic induction by X-ray irradiation. To elucidate the ge...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00106-5
更新日期：2002-07-15 00:00:00
abstract：:Multiple studies have reported that adult cells of bone marrow origin can differentiate into muscle, skin, liver, lung, epithelial cells, and neurons. To determine whether such cells might produce neurons and other cells in the human brain, we examined paraffin sections from female patients who had received bone marro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2005.03.017
更新日期：2005-06-15 00:00:00
abstract：:We performed a population based survival analysis of all incident cases (220) of motor neuron disease (MND) in the province of Turin, Italy, during the period 1966-1980. 175 cases were diagnosed as amyotrophic lateral sclerosis (ALS), 43 as progressive muscular atrophy (PMA) and 2 as progressive bulbar palsy (PBP). Th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(84)90004-2
更新日期：1984-11-01 00:00:00
abstract：:A blink reflex consists of an early unilateral component, R1, and a late bilateral component, R2. During an acute phase of hemispheric cerebrovascular accident, R1 and R2 were abnormal in 30 and 50 of 66 patients, respectively. Paired stimuli usually corrected R1 but not R2, which was profoundly suppressed. The discre...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90018-8
更新日期：1985-01-01 00:00:00
abstract：BACKGROUND:Although a number of studies reported different interictal findings between migraine with aura (MA) and migraine without aura (MO), the pathophysiology of the visual aura in migraine remains unclear. OBJECTIVE:To investigate the visual processing in patients who experience MA between attacks using steady-st...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.04.004
更新日期：2008-08-15 00:00:00
abstract：:We studied neurite regeneration in MRL-lpr/lpr mice, a murine model of systemic lupus erythematosus, using a culture system to investigate the influences of immunological abnormalities on neurons. The regeneration of cultured dorsal root ganglion (DRG) neurons from MRL-lpr/lpr mice was delayed compared with control MR...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)05216-1
更新日期：1997-07-01 00:00:00
abstract：:The intracellular content of the nervous system specific protein S-100 began to increase with 4 days latency following the morphological differentiation of cultured rat glioma cells (C-6) with 1 mM dibutyryl cyclic AMP (dbcAMP), rising to approximately 10-fold over the control level at 15 days after the treatment. The...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90065-4
更新日期：1981-07-01 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：:Dietary supplements containing Ephedra used for weight loss and physical performance enhancement such as "herbal ecstasy" are widely available, and it is estimated that at least 1% of the adult population have taken these products. Ephedra products including Ephedra alkaloids such as phenylpropanolamine or other ephed...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.08.012
更新日期：2004-01-15 00:00:00
abstract：:We measured the levels of some biological metals: copper (Cu), iron (Fe), magnesium (Mg), manganese (Mn), and zinc (Zn) in the cerebrospinal fluid (CSF) in patients with neurodegenerative diseases (52 patients with amyotrophic lateral sclerosis (ALS)), 21 patients with Alzheimer's disease (AD), and 20 patients with Pa...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.01.003
更新日期：2011-04-15 00:00:00
abstract：BACKGROUND:Current American Stroke Association guidelines recommend initiating intravenous thrombolysis (IVT) for acute ischemic stroke (AIS) within 60min of patient arrival, given the benefits of IVT for AIS are time dependent. This study aimed to identify the delaying factors in door-to-needle time (DTN) in the emerg...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.03.003
更新日期：2017-05-15 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：:Recently, TAR DNA-binding protein of 43-kDa (TDP-43) was identified as a major component of ubiquitinated neuronal cytoplasmic inclusions observed in lower motor neurons in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitinated inclusions. We herein investigated the relationship b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.12.016
更新日期：2008-06-15 00:00:00
