Abstract：
:We report the clinical, neuroradiological and biochemical features of a patient with epilepsia partialis continua (EPC). MRI studies disclosed multiple cortico-subcortical areas of abnormal signal intensity. The activity of complex I of the mitochondrial respiratory chain was markedly reduced in skeletal muscle. The biochemical defect was reflected in vivo by a failure of brain and skeletal muscle bioenergetics, as shown by exercise and phosphorus magnetic resonance spectroscopy (31P-MRS) studies. Muscle morphology was repeatedly normal, and molecular genetic analysis of mitochondrial DNA was not informative. On the basis of in vivo and in vitro findings, the observed defect of the mitochondrial respiratory chain was considered the underlying biochemical pathogenesis of the disease. The observation of an oxidative defect in the brain and skeletal muscle of a patient with EPC emphasizes the importance of studying mitochondrial energy metabolism in patients with EPC not associated with primary CNS lesions when clinical and morphological findings suggesting a mitochondrial disorder are lacking. 31P-MRS can be a useful method to uncover deficits of CNS mitochondrial function and provide the indication for further biochemical studies.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Antozzi C,Franceschetti S,Filippini G,Barbiroli B,Savoiardo M,Fiacchino F,Rimoldi M,Lodi R,Zaniol P,Zeviani Mdoi
10.1016/0022-510x(94)00267-rsubject
Has Abstractpub_date
1995-04-01 00:00:00pages
152-61issue
2eissn
0022-510Xissn
1878-5883pii
0022510X9400267Rjournal_volume
129pub_type
杂志文章abstract：:Fibroblasts obtained from patients with Friedreich's ataxia and normal control subjects were studied by immunocytochemistry for intermediate filament vimentin and also for in vitro proliferation. Trypsinized cells were seeded on coverslips and incubated for 1.5 h and 24 h. The expression of vimentin in cells was inves...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90168-x
更新日期：1993-07-01 00:00:00
abstract：BACKGROUND:Allelic heterogeneity and phenotype variability-especially in age at onset, penetrance and progression-are reported in ALS1 families. For this reason, SOD1 gene mutation data in ALS1 patients are currently being gathered to better understand the genotype-phenotype relationship in this disorder. Here, we repo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2003.10.018
更新日期：2004-04-15 00:00:00
abstract：BACKGROUND:The accumulation of toxic free radicals plays a pivotal role in the early molecular cascades of blood-brain barrier (BBB) disruption mediated by matrix metalloproteinases (MMPs) activation in ischemic stroke. Theoretically, it is expected that early blockade of activation of MMPs may provide protective effec...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.09.021
更新日期：2012-12-15 00:00:00
abstract：:We report a Japanese family with adrenoleukodystrophy (ALD) with a three base pair deletion (delGAG 291) in the ALD gene. A variety of phenotypes were observed within this family. While the proband (patient 1) was classified as having a rare intermediate type of adult cerebral and cerebello-brain stem forms, his young...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00120-8
更新日期：1998-06-30 00:00:00
abstract：:Cutaneomuscular reflexes have been recorded from the first dorsal interosseous muscle during a sustained abduction of the index finger of 20 subjects (25 recordings) following stimulation of the digital nerves at the following frequencies: 2 Hz, 3 Hz, 5 Hz, 7 Hz and 9 Hz, presented in random order. Five hundred stimul...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00326-9
更新日期：2000-08-01 00:00:00
abstract：OBJECTIVE:To identify the main determinants of health-related quality of life (HRQoL) in Brazilian stroke survivors. METHODS:Patients were assessed with the NIH Stroke Scale, Barthel index (BI), Lawton scale, modified-Rankin scale, Cumulative Illness Rating Scale for Geriatrics, Mini-Mental State Examination, Hospital...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.04.008
更新日期：2009-09-15 00:00:00
abstract：:The effects of the specific dopaminergic neurotoxin, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), were studied on the kinetics of [3H]mazindol binding to striatal membranes of C57 black mice. This radioligand was used to label dopamine uptake sites and when administered in vivo, MPTP caused an irreversible, no...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90195-4
更新日期：1986-06-01 00:00:00
abstract：:Demonstration of the direct involvement of cranial blood vessels by varicella zoster virus (VZV) is facilitated by immunohistochemistry (IHC), in situ hybridization (ISH) and polymerase chain reaction (PCR) techniques. The extent to which an inflammatory vasculitis serves as the pathogenic mechanism for VZV encephalom...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00171-3
更新日期：1998-08-14 00:00:00
abstract：:Transcranial direct current stimulation (tDCS) is a noninvasive technique to modulate the neural membrane potential. Its effects in the early stage of traumatic brain injury (TBI) have rarely been investigated. This study assessed the effects of anodal tDCS on behavioral and spatial memory in a rat model of traumatic ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.02.005
更新日期：2016-03-15 00:00:00
abstract：:A common cause of nerve cell death often leading to vascular dementia is ischemic stroke. Attempts to develop clinically effective stroke treatment and prevention strategies based on pharmacological manipulations of a single mechanism have not led to clinical success. Analysis of clinical neuroprotection trials sugges...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2004.11.028
更新日期：2005-03-15 00:00:00
abstract：UNLABELLED:Riluzole is currently the only drug that holds any hope of prolonging life in amyotrophic lateral sclerosis (ALS) by slowing the rate of disease progression. METHODS AND RESULTS:Between 1995 and 1997 a total of 7916 ALS patients in 39 countries, were given 100 mg riluzole per day for a mean of 7.2 months. T...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1016/s0022-510x(00)00426-3
更新日期：2000-11-01 00:00:00
abstract：:In 13 patients with familial dysautonomia sleep recordings were obtained to investigate the possibility that autonomic nervous system dysfunction plays a role in disordered breathing during sleep. Sleep structure in some of our patients was abnormal, showing decreased amount of REM sleep and increased REM latencies. A...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90131-4
更新日期：1983-07-01 00:00:00
abstract：:An elderly man with relapsing myasthenia gravis was found to have hypergammaglobulinaemia, a monoclonal peak of gamma mobility and paraproteinaemia IgG, type K. Bence-Jones proteinuria, type K was present. This is the fourth report of myasthenia gravis associated with a monoclonal gammopathy. Myasthenia gravis is cons...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(80)80011-6
更新日期：1980-02-01 00:00:00
abstract：:Altered functional connectivity has been associated with the influence of epileptic activity. Abnormalities in connectivity, particularly in dorsal attention (DAN), salience (SN) and default mode (DMN) networks, might contribute to the loss of consciousness during seizures and cognitive deficits in patients with child...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.04.054
更新日期：2015-07-15 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：:Churg-Strauss syndrome (CSS) is a rare systemic vasculitis, almost invariably accompanied by asthma, nasal polyposis, paranasal sinus abnormalities, and increased peripheral blood eosinophil count. Neurological involvement as peripheral neuropathy is a common feature, whereas cerebral involvement is extremely rare. He...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2010.10.016
更新日期：2011-02-15 00:00:00
abstract：INTRODUCTION:Cerebral infarction secondary to Aspergillus arteritis or septic embolism is an exceptional finding. We present a case of multiple systemic embolism and cerebral infarction resulting from Aspergillus aortitis in an immunocompetent patient. PATIENT:A 65-year-old male with hypertension, hyperglycaemia and m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.04.037
更新日期：2009-09-15 00:00:00
abstract：:Single channel recording patch-clamp technique was used in the mouse to compare the acetylcholine (ACh)-induced channel behaviour between normal and dystrophic myotubes. While open time and slope conductance were equivalent, ACh-induced channel opening frequency was more than 4-fold reduced in dystrophic compared to n...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90176-1
更新日期：1988-03-01 00:00:00
abstract：BACKGROUND:Platelet-leukocyte aggregations (PLA) play key roles in acute ischemic stroke (AIS) process and they are formed by the combination of P-selectin (SELP) expressed on the surface of the platelet membranes with P-selectin glycoprotein ligand-1(PSGL-1) expressed on the surface of the leukocytes. There are geneti...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.05.046
更新日期：2016-08-15 00:00:00
abstract：:Cultured post-fused human skeletal muscle monolayers exposed to WSN influenza A virus were analyzed by scanning and transmission electron microscopy. At 12-14h post-inoculation (p.i.), affected mononuclear cells retracted from the cell surface, but remained anchored to the substrate by taut filar processes. Retraction...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(78)90162-4
更新日期：1978-03-01 00:00:00
abstract：:The study's objectives were to assess the predictive significance of different sets of demographic, clinical and extraclinical variables in identifying multiple sclerosis patients with various risk levels of worsening during the follow-up, in order to provide clues to inclusion criteria and selection of primary clinic...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00143-4
更新日期：1999-10-15 00:00:00
abstract：:We observed a stroke patient with an infarct of the internal capsule interrupting the pyramidal tract who stretched his hemiplegic arm during spontaneous and apomorphine-induced yawning. The putative mechanism by which yawning can induce the paradoxical motor response of the plegic arm in the patient might be the func...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90278-x
更新日期：1994-11-01 00:00:00
abstract：:Psychiatric and intellectual comorbidities are common in patients with epilepsy. However, data on the use of antiepileptic drugs in these patients are still lacking. This study assessed the real-world effectiveness and safety/tolerability of eslicarbazepine acetate (ESL) in patients with intellectual disability and ps...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.04.040
更新日期：2019-07-15 00:00:00
abstract：BACKGROUND:Entrapment neuropathy of the radial nerve at the spiral groove region is relatively common. However, its localization may be technically challenging. OBJECTIVE:To evaluate the use of ultrasound (US), in relation to electrophysiological testing, for this purpose. METHODS:We studied 32 normal controls to obt...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.03.014
更新日期：2008-08-15 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) and allergies are both considered to be related to imbalanced Th1 and Th2 immune responses. Previous studies evaluating the relationship between MS and allergies provide conflicting results. OBJECTIVE:To assess allergies and asthma as risk factors for MS and as predictors of MS relap...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2017.02.041
更新日期：2017-04-15 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
doi：10.1016/j.jns.2014.05.043
更新日期：2014-08-15 00:00:00
abstract：:Pathologic laughter which usually occurs after bilateral or diffuse cerebral lesions was rarely reported in patients with unilateral stroke. I describe clinical and radiological findings of 13 patients presenting pathologic laughter due to unilateral stroke. Their laughter was excessive, unmotivated, uncontrollable an...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)05323-3
更新日期：1997-05-01 00:00:00
abstract：:Nutritional deficiency may be the cause of a genuine optic neuropathy, sometimes associated with involvement of the peripheral nervous system. Nutritional optic neuropathies are usually bilateral, painless, chronic, insidious and slowly progressive. Most often, they present as a non-specific retrobulbar optic neuropat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.06.038
更新日期：2007-11-15 00:00:00
abstract：:We report eight patients with adult-onset subacute sclerosing panencephalitis (SSPE), of which, four were treated with oral isoprinosine and four with intraventricular alpha-interferon plus oral isoprinosine. One of the four patients treated with oral isoprinosine died within two months, and the disease progressed in ...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(98)00302-5
更新日期：1999-01-01 00:00:00
abstract：:We assayed IL-6 in 105 cerebrospinal fluid (CSF) samples from patients with ALS, MS, HTLV-1 associated myelopathy (HAM), and controls. There was considerable overlap in IL-6 levels in all patient groups. The mean IL-6 in 27 patients with ALS was significantly higher than in 21 patients in the other neurological diseas...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(97)00228-1
更新日期：1998-02-05 00:00:00
