Abstract：
:An 83-day-old male infant had convulsions, hypertrophic cardiomyopathy, and lactic acidosis. Cranial computed tomography revealed low-density areas in both parieto-occipital lobes and in the left temporal lobe. Muscle biopsy did not reveal ragged-red fibers, but abnormal mitochondria were found in the capillary endothelial cells as well as in the muscle fibers. At 5 months of age, the patient developed purpura on the soles and palms. Skin biopsy showed degeneration of the endothelial cells with abnormal mitochondria in the arterioles and capillaries. Myelinated nerves in the skin had vacuolated axons with swollen mitochondria, and their myelin sheaths showed vacuolation. At 9 months of age, he died of heart failure, and autopsy revealed abnormal mitochondria in the myocardium but not in the coronary vessels. Our findings indicate that the symptoms of the mitochondrial encephalopathy, myopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome cannot be fully explained by the mitochondrial angiopathy alone.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Fujii T,Okuno T,Ito M,Mutoh K,Horiguchi Y,Tashiro H,Mikawa Hdoi
10.1016/0022-510x(91)90280-ksubject
Has Abstractpub_date
1991-05-01 00:00:00pages
37-41issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(91)90280-Kjournal_volume
103pub_type
杂志文章abstract：:Data of 2399 brain weights and ages from populations before 1880, 1885 to 1900 and 1966 to 1976 were obtained from German anatomical and pathological institutes, analyzed with non-linear and multiple linear regression analyses and the results compared. The influence of the absolute age (sample period) on brain weights...
journal_title：Journal of the neurological sciences
pub_type： 历史文章,杂志文章
doi：10.1016/0022-510x(79)90202-8
更新日期：1979-02-01 00:00:00
abstract：:In five patients with cerebral manifestation of Wilson's disease, copper was measured in CSF, serum, urine and liver, and ceruloplasmin was determined in CSF and serum. CSF copper was found to be elevated in all cases, especially in the four examined before therapy. Two patients were followed up for a period of 3 year...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90275-9
更新日期：1987-06-01 00:00:00
abstract：:A 75-year-old woman developed painful legs and moving toes syndrome (PLMT) 16 months after the onset of herpes zoster (HZ) myelitis. Although the scattered extensive lesions due to HZ myelitis were observed to be eccentric near the posterior horn on MRI, these changes had disappeared upon the development of PLMT. Comb...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.01.011
更新日期：2004-04-15 00:00:00
abstract：:Transgenic mice that express the G93A mutation of human Cu,Zn superoxide dismutase (SOD1(G93A)), found in familial amyotrophic lateral sclerosis (FALS), showed clinical symptoms and histopathological changes of sporadic ALS, including fragmentation of the neuronal Golgi apparatus (GA). The finding of fragmented neuron...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00300-7
更新日期：2000-02-01 00:00:00
abstract：:Long-term trials have demonstrated the continued efficacy of interferon (IFN) beta treatment in patients with relapsing-remitting (RR) multiple sclerosis (MS) during prolonged administration. The objective of the work was to evaluate the effects of reducing IFN beta administration frequency and total weekly dose in pa...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.jns.2004.03.023
更新日期：2004-07-15 00:00:00
abstract：:Proinflammatory cytokines contribute to the regulation of the disease process in inflammatory neuropathies. Cellular localisation of cytokine expression in CIDP nerve biopsies should provide further insight into the pathogenic mechanisms of the disease and the individual cells involved. In this study in situ hybridisa...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00009-x
更新日期：1999-02-01 00:00:00
abstract：:Noninvasive ventilatory assistance, in ALS patients, with the bilevel intermittent positive air pressure (Bipap) was studied, in a prospective and controlled trial, by the authors. Twenty ALS bulbar patients, fulfilling El Escorial criteria for probable or definite disease, were selected. For the follow-up all patient...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/0022-510x(95)00052-4
更新日期：1995-05-01 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：:Recently an association between statins and the onset and more rapid disease course of amyotrophic lateral sclerosis (ALS) was reported, while other studies rejected such a link. The role of gender in that controversy is unclear. We evaluated the gender-specific effect of statins on the rate of functional decline in p...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.10.011
更新日期：2011-01-15 00:00:00
abstract：:Alterations in short- and long-latency components of median and tibial somatosensory evoked potentials (SEPs) were studied in patients with lesions in the thalamus and thalamo-cortical radiations. When the lesions were located primarily in the ventro-posterior thalamus, the SEP changes consisted of the following combi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90169-3
更新日期：1986-12-01 00:00:00
abstract：BACKGROUND AND AIM:Cerebral hemiatrophy (CHA) is a congenital or acquired loss of volume in one hemisphere of the brain. The MR findings of the affected hemisphere have been a subject of many studies, however, the contralateral hemisphere has not been investigated. There is, in fact, an integrity between two hemisphere...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.02.055
更新日期：2016-04-15 00:00:00
abstract：:Anhedonia is one of the non-motor symptoms observed in the Parkinson's disease (PD). However, there is no clear relationship between anhedonia and its correlation with other symptoms of PD. The aim of this study is to evaluate the characteristics of anhedonia and its correlation with clinical aspects of PD in a relati...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2016.10.051
更新日期：2017-01-15 00:00:00
abstract：PURPOSE:To investigate localized cerebral function abnormalities in patients with familial cortical myoclonic tremor and epilepsy (FCMTE) using resting-state functional magnetic resonance imaging (fMRI). METHODS:Seven patients with FCMTE from a Chinese family, seven patients with essential tremor (ET), and ten healthy...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.03.005
更新日期：2015-04-15 00:00:00
abstract：PURPOSE:The goal of the present study was to clarify the clinical characteristics and laboratory results of parkinsonian symptoms among patients with and without camptocormia. METHODS:Seventy-eight Parkinson's disease (PD) patients with camptocormia and 78 PD patients without camptocormia underwent a neurological exam...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2015.09.015
更新日期：2015-11-15 00:00:00
abstract：:Observations have been made on the regeneration of myelinated fibres in the sural nerve of streptozotocin-induced diabetic rats and age-matched non-diabetic control animals at 3, 6 and 18 weeks after a localized crush lesion. Morphometric studies on the regenerated fibres revealed no differences in the total fibre cou...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90167-7
更新日期：1975-04-01 00:00:00
abstract：:The scalp distribution of the response to stimulation of the tibial nerve at the medial malleolus was systematically analysed. The somatosensory evoked potential (SEP) was recorded with electrodes placed in a transversal line over the ipsilateral and contralateral postcentral gyri and in a sagittal line over the longi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90038-2
更新日期：1983-05-01 00:00:00
abstract：:We describe a 54-year-old diabetic woman who developed ischemic optic neuropathy followed by acute retinal necrosis and multiple areas of focal venous beading. Vitreous fluid contained amplifiable VZV DNA but not HSV-1, CMV or toxoplasma DNA. The clinical presentation was remarkable for jaw claudication and intermitte...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.12.021
更新日期：2013-02-15 00:00:00
abstract：:The neuropathology of 8 cases of S. Paulo south coast epidemic encephalitis (Rocio flavivirus), a new arbo B virus encephalitis, is described. The topographic pattern of the lesions appears to be almost specific. The gray matter is predominantly affected. Interstitial mononuclear infiltration, microglial proliferation...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(80)80001-3
更新日期：1980-02-01 00:00:00
abstract：:We report a 67-year-old man who developed yes/yes head tremor without appendicular tremor six weeks after right occipital and bilateral cerebellar infarction. The tremor was resting-postural. Its activity increased with excitement, decreased either after ethanol, lateroflexion or rest and stopped at sleep. Four-vessel...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：
更新日期：1996-08-01 00:00:00
abstract：:We describe a patient with progressive aphemia with agrammatism that was later overlaid with buccofacial apraxia and pseudobulbar palsy. Pathological findings were consistent with those of classic Pick's disease with argyrophilic inclusions and neuronal achromasia, except for restricted cortical atrophy in the frontal...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00159-2
更新日期：1998-08-14 00:00:00
abstract：:Demonstration of lesion dissemination in space (DIS) and time (DIT) is necessary for the diagnosis of multiple sclerosis (MS) in clinically isolated syndromes (CIS). The McDonald criteria accepted two methods to demonstrate DIS. The fulfillment of at least three of four MRI Barkhof criteria (MRI-BC) or, alternatively,...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.08.030
更新日期：2008-03-15 00:00:00
abstract：IMPORTANCE:Natalizumab was approved in 2004 by the US Food and Drug Administration (US-FDA) for treatment of multiple sclerosis (MS), however it was temporarily withdrawn after its use was associated with progressive multifocal leukoencephalopathy (PML). Other reported adverse events have included melanoma, primary cen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.03.007
更新日期：2014-05-15 00:00:00
abstract：:The process of vascularisation was studied in transplanted astrocytomas in BD-IX rats. The development of blood vessels was followed from the earliest signs of angiogenesis throughout tumour growth. On the basis of tumour vasculature, 3 consecutive stages of tumour growth could be distinguished; avascular, early vascu...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90188-x
更新日期：1981-01-01 00:00:00
abstract：:A family with adult spinal and bulbar muscular atrophy with X-linked recessive inheritance (Kennedy's disease) is described. Affected members presented at age 20 with muscle cramps followed insidiously by gynaecomastia, partial loss of secondary sexual traits, loss of libido and inability to maintain an erection. Thre...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90022-9
更新日期：1983-06-01 00:00:00
abstract：PURPOSE:This study aimed to develop a conceptual understanding of the specific characteristics of palliative care in neurology and the challenges of providing palliative care in the setting of neurological illness. METHOD:The study was conducted at London Health Sciences Centre in Canada using grounded theory methodol...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.12.008
更新日期：2018-02-15 00:00:00
abstract：:The occurrence of neuropathy in 5 cases of inclusion body myositis (IBM) was studied. The intramuscular nerve branches showed variable ultrastructural changes in all cases. The observed changes were loss of axons, wallerian degeneration and axon terminal atrophy. EMG with concentric needles showed myopathic motor unit...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90167-l
更新日期：1990-11-01 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
abstract：:The technique of parabiotic reinnervation has been used to test directly the neurogenic theory of the aetiology of muscular dystrophy in mice. Dystrophic muscles contain significantly fewer muscle fibres than their normal controls; they also have a much broader spectrum of fibre size because of a much higher proportio...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90212-9
更新日期：1975-11-01 00:00:00
abstract：:A 52-year-old Caucasian male with typical features of myotonic dystrophy (MD) developed a lung abscess and was found to have a mild atypical cyclic neutropenia. Granulocyte function testing revealed a defect in phagocytosis, bactericidal activity and chemotaxis. The defects were less severe at the nadir of the granulo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90057-2
更新日期：1986-03-01 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
