Tuberous sclerosis: the incidence of sporadic cases versus familial cases.

abstract：:To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four ant...

journal_title：Brain & development

authors： Zhao J,Uchino M,Yoshioka K,Miyatake M,Miike T

更新日期：1991-01-01 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

authors： Yoshioka H,Yoshida A,Ochi M,Mino M,Kasubuchi Y,Sawada T,Kusunoki T

更新日期：1980-01-01 00:00:00

abstract：:Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...

journal_title：Brain & development

authors： Roy S,Kale A,Dangat K,Sable P,Kulkarni A,Joshi S

更新日期：2012-01-01 00:00:00

abstract：:Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, ...

journal_title：Brain & development

authors： Izumi T,Hara K,Ogawa T,Osawa M,Saito K,Novo ML,Fukuyama Y,Takashima S

更新日期：1995-01-01 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

authors： Naka F,Narita N,Okado N,Narita M

更新日期：2005-06-01 00:00:00

abstract：:A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...

journal_title：Brain & development

authors： Okada S,Kato T,Tanaka H,Takada K,Aramitsu Y

更新日期：1988-01-01 00:00:00

abstract：:We report a 20-month-old girl with an unruptured aneurysm of the middle cerebral artery. The initial sign was complex partial seizures. Magnetic resonance angiography showed an aneurysm of the right middle cerebral artery. Cerebral angiography confirmed the presence of a saccular aneurysm. After 3 months, the aneurysm...

journal_title：Brain & development

authors： Tanaka K,Hirayama K,Hattori H,Matsuoka O,Sakamoto H,Hakuba A,Murata R

更新日期：1994-05-01 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

authors： Vanhatalo S,Nikolajev K,Kiekara O,Seuri R,Riikonen R

更新日期：2003-08-01 00:00:00

abstract：:Assessment of treatment strategies in febrile seizures should be based on short- and long-term outcomes, with and without acute, intermittent, or chronic medical intervention, as well as short- and long-term side effects. Febrile seizures are a benign condition with a normal neurological, motor, intellectual, and cogn...

journal_title：Brain & development

authors： Knudsen FU

更新日期：1996-11-01 00:00:00

abstract：:Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GL...

journal_title：Brain & development

authors： Veggiotti P,Teutonico F,Alfei E,Nardocci N,Zorzi G,Tagliabue A,De Giorgis V,Balottin U

更新日期：2010-05-01 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

authors： Sawada Y,Shintaku H,Isshiki G

更新日期：1999-06-01 00:00:00

abstract：:Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...

journal_title：Brain & development

authors： Jin K,Handa T,Ishihara T,Yoshii F

更新日期：1979-01-01 00:00:00

abstract：:Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epile...

journal_title：Brain & development

authors： Kim YO,Nam TS,Park C,Kim SK,Yoon W,Choi SY,Kim MK,Woo YJ

更新日期：2016-06-01 00:00:00

abstract：:In children, the conditions defined as "ataxia" form a very heterogeneous group. They also often differ from the "ataxias" of adults. In many cases this can be attributed to their different etiology, but probably it is also due to the peculiar functional and physiopathologic characteristics of the cerebellar system du...

journal_title：Brain & development

authors： De Negri M,Rolando S

更新日期：1990-01-01 00:00:00

abstract：PURPOSE:We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children w...

journal_title：Brain & development

authors： Horie M,Okamura H

更新日期：2017-11-01 00:00:00

abstract：:The severity of intellectual sequelae and prognosis varies in patients with congenital ocular motor apraxia (COMA). Here, we explored this phenomenon with regard to the accompanying oculomotor signs and gross motor development, as well as the subtentorial structure defects. Ten patients diagnosed with COMA (M:F=4:6, 4...

journal_title：Brain & development

authors： Kondo A,Saito Y,Floricel F,Maegaki Y,Ohno K

更新日期：2007-08-01 00:00:00

abstract：BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...

journal_title：Brain & development

authors： Dai L,Ding C,Fang F

更新日期：2019-02-01 00:00:00

abstract：:Magnetic resonance (MR) findings in cases of total asphyxia, whose lesions are mainly in the brainstem and deep nuclei, have not been clarified. In this study, we investigated MR images in neonates with total asphyxia. MR images of six infants (three males and three females; gestational age, 35-39 weeks; birth weights...

journal_title：Brain & development

authors： Sugiura H,Kouwaki M,Kato T,Ogata T,Sakamoto R,Ieshima A,Yokochi K

更新日期：2013-01-01 00:00:00

abstract：:A study of epileptic drop attacks (EDA) by simultaneous video-polygraphic recordings was carried out in one epileptic patient with myoclonic astatic seizures (Doose syndrome). EDA was shown to correspond to a burst of generalized bilaterally synchronous spike and wave complexes (GBSSW) at 3 Hz. Absence seizures were a...

journal_title：Brain & development

authors： Oguni H,Imaizumi Y,Uehara T,Oguni M,Fukuyama Y

更新日期：1993-05-01 00:00:00

abstract：OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...

journal_title：Brain & development

authors： Sekigawa-Hosozawa M,Tanaka K,Shimizu T,Nakano T,Kitazawa S

更新日期：2017-03-01 00:00:00

abstract：OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...

journal_title：Brain & development

authors： Magara S,Komatsubara T,Hojo M,Kobayashi Y,Yoshino M,Saitoh A,Tohyama J

更新日期：2019-02-01 00:00:00

abstract：:Approximately 10% of patients with systemic lupus erythematosus (SLE) develop epileptic seizures. When occurring before the onset of generalized SLE, the seizures are mainly primary generalized. Accordingly, long-term treatment with anti-epileptic drugs may precipitate SLE, or epilepsy and SLE may both occur as manife...

journal_title：Brain & development

authors： Aarli JA

更新日期：1993-01-01 00:00:00

abstract：:The neuropathological examination of the brain of a 4-month-old girl with Aicardi syndrome (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and vertebral anomalies) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of ...

journal_title：Brain & development

authors： Ferrer I,Cusí MV,Liarte A,Campistol J

更新日期：1986-01-01 00:00:00

abstract：:We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...

journal_title：Brain & development

authors： Azumagawa K,Suzuki S,Tanabe T,Wakamiya E,Kawamura N,Tamai H

更新日期：2003-04-01 00:00:00

abstract：:We reported a 2-year-old boy with Lennox-Gastaut syndrome, of which the cause could be an adverse effect of further attenuated live (FL) measles vaccine. The pre- and peri-natal histories of the patient were uneventful, except that he was one of monozygotic twins. He had developed normally until 24 months of life, whe...

journal_title：Brain & development

authors： Ishikawa T,Ogino C,Chang S

更新日期：1999-12-01 00:00:00

abstract：PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...

journal_title：Brain & development

authors： Kim H,Yoo IH,Lim BC,Hwang H,Chae JH,Choi J,Kim KJ

更新日期：2016-11-01 00:00:00

abstract：:The development of the human inferior collicular nucleus was studied on serial sections of the brains of 9 fetuses at 12-34 weeks of gestation and an adult of 63 years using an electronic planimeter with a computer. Morphometric analysis of the development of the inferior collicular nucleus showed that its development...

journal_title：Brain & development

authors： Nara T,Goto N,Hamano S,Okada A

更新日期：1996-01-01 00:00:00

abstract：:The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...

journal_title：Brain & development

authors： Suwa K,Momoi MY

更新日期：2004-09-01 00:00:00

abstract：:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...

journal_title：Brain & development

authors： Numata Y,Uematsu M,Suzuki S,Miyabayashi T,Oyama T,Kubota S,Itoh T,Hino-Fukuyo N,Takahashi T,Kure S

更新日期：2015-01-01 00:00:00

abstract：:This review presents 21 cases, found in the literature, of a CNS lesion (a tumor in 19 of them) associated with emaciation, anorexia and several psychic symptoms that had led to the diagnosis of anorexia nervosa (AN). Anorexia and psychic disturbances preceded the neurologic signs and/or the correct diagnosis in all p...

journal_title：Brain & development

authors： Chipkevitch E

更新日期：1994-05-01 00:00:00