Abstract:
:Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hereditary spastic paraparesis (HSP) patients. The results showed that plasma SOD, vitamin E and nitric oxide levels were significantly low in HSP patients. These findings indicate the influence of oxidative damage in the degenerative process of HSP.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Gücüyener K,Pinarli FG,Erbaş D,Hasanoğlu A,Serdaroğlu A,Topaloğlu Hdoi
10.1016/j.braindev.2008.12.014subject
Has Abstractpub_date
2010-02-01 00:00:00pages
130-6issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(08)00300-8journal_volume
32pub_type
杂志文章abstract::To determine the effect of flunarizine therapy on patients with alternating hemiplegia of childhood (AHC), we sent a questionnaire by mail to council members of the Japanese Society of Child Neurology. We collected 28 AHC patients, and studied their clinical courses and the effects of drug therapy. All of the patients...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00229-7
更新日期:2001-08-01 00:00:00
abstract:INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.01.010
更新日期:2018-06-01 00:00:00
abstract::Forty-eight subjects with Tourette syndrome (M 36, F 12; mean age 11.2 years) and 48 with chronic tic disorder (M 33, F 15; mean age 12.1 years) were recruited in order to study the vertical transmission within families of a vulnerability to tic disorders or to other psychiatric disorders, the role of adverse pre- and...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.09.007
更新日期:2005-08-01 00:00:00
abstract::It is sometimes difficult to discriminate high functioning pervasive developmental disorders (HFPDD) from attention deficit/hyperactivity disorders (AD/HD) in young children because of the behavioral similarities between the two. For adequate diagnosis, understanding fundamental differences in their social cognitive a...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/S0387-7604(03)00170-0
更新日期:2004-08-01 00:00:00
abstract::We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.013
更新日期:2007-06-01 00:00:00
abstract::Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00363-1
更新日期:2001-12-01 00:00:00
abstract::Oxidative stress plays an important role in cystic periventricular leukomalacia (PVL). We performed a case-control study of preterm infants delivered at <35 weeks of gestation between January 2003 and December 2006. Patients were stratified into three groups, according to age at which cysts were initially identified: ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.10.008
更新日期:2009-10-01 00:00:00
abstract::Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00021-7
更新日期:1998-06-01 00:00:00
abstract::Monitoring brain function by EEG is an important means of preventing cerebral insults in pediatric cardiovascular surgery. We studied intraoperative EEG changes and their regional differences associated with hypothermia and brain ischemia. The subjects of this study consisted of 13 children ranging in age from 4 month...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00192-9
更新日期:2001-03-01 00:00:00
abstract:OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.12.006
更新日期:2021-01-09 00:00:00
abstract::Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.09.003
更新日期:2010-09-01 00:00:00
abstract:BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.07.003
更新日期:2013-05-01 00:00:00
abstract::Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 pa...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80049-9
更新日期:1987-01-01 00:00:00
abstract::The discovery of nerve growth factor (NGF) over 40 years ago led to the formulation of the "Neurotrophic Factor Hypothesis". This hypothesis states that developing neurons compete with each other for a limited supply of a neurotrophic factor (NTF) provided by the target tissue. Successful competitors survive; unsucces...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(96)00051-4
更新日期:1996-09-01 00:00:00
abstract::Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00173-x
更新日期:2000-12-01 00:00:00
abstract::Mutations in the mitochondrial tRNAMet gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudd...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.01.006
更新日期:2019-05-01 00:00:00
abstract::The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80030-9
更新日期:1985-01-01 00:00:00
abstract::The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.06.008
更新日期:2008-02-01 00:00:00
abstract::Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen patients fulfill the criteria established by Hagberg et al hereas three represent clinical variants. Detailed biochemical and neurodiagnostic assessment was conducted in all patients. Reduction in cerebrospinal biogenic amine m...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80063-3
更新日期:1987-01-01 00:00:00
abstract:BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.004
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.03.011
更新日期:2018-08-01 00:00:00
abstract::We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80063-4
更新日期:1989-01-01 00:00:00
abstract:BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.10.006
更新日期:2015-08-01 00:00:00
abstract::This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90114-7
更新日期:1994-01-01 00:00:00
abstract::This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.005
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVE:Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.12.010
更新日期:2014-01-01 00:00:00
abstract:PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.02.004
更新日期:2013-09-01 00:00:00
abstract::Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.04.002
更新日期:2015-02-01 00:00:00
abstract:PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.07.014
更新日期:2013-04-01 00:00:00
abstract::The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.12.004
更新日期:2006-08-01 00:00:00