Abstract:
:Alexander disease is a major entity of leukodystrophy; magnetic resonance imaging (MRI) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance. Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis, which has widened the Alexander disease entity beyond the classical one. We report the patient, a 16-year-old Japanese boy, with infantile-onset Alexander disease, showing striking MRI findings; extreme white matter loss of cerebrum through cerebellum, severe atrophy of basal ganglia, cerebellum, brain stem, and cervical spinal cord. Molecular analysis showed a heterozygous mutation R239L (c.730G>T) in GFAP. A relative long disease course, over 15years, with the help of mechanical ventilation revealed the striking MRI progression.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Shiihara T,Yoneda T,Mizuta I,Yoshida T,Nakagawa M,Shimizu Ndoi
10.1016/j.braindev.2010.10.007subject
Has Abstractpub_date
2011-08-01 00:00:00pages
604-7issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(10)00270-6journal_volume
33pub_type
杂志文章abstract::The correlation between the functional and morphological maturation of the auditory pathway was studied in preterm and term infants, children and adults. As to the auditory brainstem response (ABR), peak latencies and I-V interpeak latencies (central transmission) gradually decreased during the third trimester and the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80092-x
更新日期:1987-01-01 00:00:00
abstract::In the present study, we investigated age-related changes in pteridine levels and enzymatic activity responsible for tetrahydrobiopterin biosynthesis in mouse tissues. Until about 15 weeks after the birth, the remarkable change of tetrahydrobiopterin (BH4) was observed in all tissues tested. Between 20 and 50 weeks af...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00144-3
更新日期:2000-09-01 00:00:00
abstract::Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/0387-7604(95)00146-8
更新日期:1996-03-01 00:00:00
abstract::Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplaine...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.06.016
更新日期:2011-05-01 00:00:00
abstract::We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.04.006
更新日期:2009-01-01 00:00:00
abstract::The aim of this study is to clarify the characteristics of ictal EEG findings of neonatal seizures in preterm infants. Seizures associated with ictal EEG changes were recognized in nine infants with gestational age of less than 37 weeks. Propagation, migration, shifting, changes in morphology of ictal EEG discharges w...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.08.011
更新日期:2008-04-01 00:00:00
abstract::Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00284-4
更新日期:2001-11-01 00:00:00
abstract:BACKGROUND:The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.05.010
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.02.002
更新日期:2020-05-01 00:00:00
abstract::In order to elucidate the molecular mechanisms underlying neuronal migration in the developing rat cerebral cortex, a novel primary tissue culture system in which neuronal migration can be evaluated was developed. Using this culture system, through autoradiographic studies we demonstrated the migration of [3H]thymidin...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00057-0
更新日期:1997-11-01 00:00:00
abstract::The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(80)80026-x
更新日期:1980-01-01 00:00:00
abstract::Ten girls affected by the Rett syndrome (RS) were treated with bromocriptine in a double blind trial. Two girls showed considerable improvements in gross and fine motor development, in cognitive and social activities, and in their autonomy after four months of treatment. Minimal improvements were seen in one girl, but...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(12)80198-7
更新日期:1990-01-01 00:00:00
abstract::To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We exte...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.04.004
更新日期:2007-11-01 00:00:00
abstract::A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00308-4
更新日期:2001-11-01 00:00:00
abstract::Recent postmortem studies have suggested that sudden infant death syndrome (SIDS) might involve an underlying, gradual brain stem injury caused by repeated episodes of transiently compromised brain stem circulation. Autopsy studies have also reported that vertebral artery occlusion due to head rotations, such as occur...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)00004-4
更新日期:2003-08-01 00:00:00
abstract::Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2009.03.007
更新日期:2009-08-01 00:00:00
abstract:INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.07.003
更新日期:2006-04-01 00:00:00
abstract::Short latency somatosensory evoked potentials (SSEPs) and 99mTc-hexamethylpropylene amine oxime single photon emission computed tomography (99mTc-HMPAO SPECT) were examined in a patient with alternating hemiplegia in infancy (AHI) before and after flunarizine treatment. The low amplitude and elongation of the latency ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90032-9
更新日期:1994-07-01 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::Neopterin and biopterin concentrations were measured in cerebrospinal fluid (CSF) and urine samples from controls less than 1 year old. This is the first time for CSF reference data for controls less than 1 year old to be reported. The ratio of neopterin to biopterin in CSF 0-30 days (n = 48) of age in control samples...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00021-2
更新日期:1999-06-01 00:00:00
abstract:OBJECTIVE:We aimed to examine (1) the prevalence and characteristics of ADHD in preschool children, and (2) differential diagnoses among children who display symptoms of inattention and hyperactivity-impulsivity in early childhood. METHODS:The participants were children living in Kanie-cho, in Japan's Aichi Prefecture...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.11.004
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.05.010
更新日期:2013-04-01 00:00:00
abstract::To investigate the development of the voluntary control of saccadic eye movement, we examined eye movements in 99 normal children (4-13 years of age). Subjects were asked to fixate a central light for 3-5 s. A target was then presented, either to its right or left. In visually guided saccades, the mean latencies of th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00101-7
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVES:To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. METHODS:Follow up data on children with favourable outcome in a series of 534 cases aged below 5 years and diagnosed as ASD. RESULTS:Cases with regression were 167 (31.8%), usually with p...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.05.004
更新日期:2010-10-01 00:00:00
abstract:INTRODUCTION:The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 r...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.11.006
更新日期:2016-05-01 00:00:00
abstract::Neuroimaging findings are usually normal in children with benign partial epilepsy in infancy. However, we found a transient reduction of water diffusion in the corpus callosum in two patients with probable benign partial epilepsy in infancy. The patients were admitted to our hospital because of seizure clusters. No de...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.010
更新日期:2010-08-01 00:00:00
abstract:AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.05.005
更新日期:2020-09-01 00:00:00
abstract::We evaluated the cyclic alternating pattern (CAP) during the first year of life in order to obtain information on the maturation of arousal mechanisms during NREM sleep and to provide normative data for CAP parameters in this age range (5-16months). Eleven healthy children (mean age 7.9±3.3months, seven boys) were stu...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.07.008
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.04.008
更新日期:2018-09-01 00:00:00
abstract::Environmental enrichment results in many modifications in the brain such as structural, behavioural, and biochemical changes. alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type receptors for excitatory amino acid glutamate are recently found to be involved in neuronal plasticity. In this study, we ex...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.07.006
更新日期:2005-06-01 00:00:00