Neuronal maturation and N-acetyl-L-aspartic acid development in human fetal and child brains.

abstract：:Fifty-one consecutive adult patients with epilepsy and early development destructive brain lesions were divided into three main groups according to the topographic distribution of the lesion on magnetic resonance imaging: hemispheric (H) (n=9); main arterial territory (AT) (n=25) and arterial borderzone (Bdz) (n=17). ...

journal_title：Brain & development

authors： Teixeira RA,Li LM,Santos SL,Zanardi VA,Honorato DC,Guerreiro CA,Cendes F

更新日期：2003-12-01 00:00:00

abstract：:Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention t...

journal_title：Brain & development

authors： Ragona F,Brazzo D,De Giorgi I,Morbi M,Freri E,Teutonico F,Gennaro E,Zara F,Binelli S,Veggiotti P,Granata T

更新日期：2010-01-01 00:00:00

abstract：:This study examined paroxysmal abnormalities and epilepsy in EEG for individuals with pervasive developmental disorders (PDD) in two parts: first with a large number of subjects (n=1624); and second with extracted subjects followed from 5 years into adolescence and beyond (n=92). Many paroxysms in PDD patients in thei...

journal_title：Brain & development

authors： Kawasaki Y,Shinomiya M,Takayanagi M,Niwa S

更新日期：2010-10-01 00:00:00

abstract：:The future of human societies depends on children being able to achieve their optimal physical and psychological development. Developmental delay is failure to acquire age-appropriate functionality. It may involve one or more streams of development. Responsive parenting has potential to promote better development. Pri...

journal_title：Brain & development

authors： Aly Z,Taj F,Ibrahim S

更新日期：2010-02-01 00:00:00

abstract：:An unique cytoplasmic inclusion was found in astrocytes of a 2-month-old female baby who showed Leigh-like brain lesions with lactic acidosis, hypoglycemia and hepatomegaly. Although a defective enzyme was not determined, a metabolic disorder was suggested from clinicopathological observations. Symmetrically distribut...

journal_title：Brain & development

authors： Yamamoto T,Armstrong D,Shibata N,Kato Y,Kobayashi M

更新日期：2000-06-01 00:00:00

abstract：PURPOSE:Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, f...

journal_title：Brain & development

authors： Baba S,Okanishi T,Nishimura M,Kanai S,Itamura S,Suzuki T,Masuda Y,Enoki H,Fujimoto A

更新日期：2018-09-01 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 occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the au...

journal_title：Brain & development

authors： Incorpora G,Sorge G,Sorge A,Pavone L

更新日期：2002-12-01 00:00:00

abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...

journal_title：Brain & development

authors： Yokochi K

更新日期：1997-12-01 00:00:00

abstract：:MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...

journal_title：Brain & development

authors： Yokota K,Sano K,Murofushi Y,Yoshimaru D,Takanashi JI

更新日期：2018-11-01 00:00:00

abstract：:A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....

journal_title：Brain & development

authors： Hayashi T,Ichiyama T,Kobayashi K

更新日期：1989-01-01 00:00:00

abstract：INTRODUCTION:Neuroimaging studies demonstrate that not only the lesions of malformations of cortical development (MCD) but also the normal-appearing parenchyma (NAP) present metabolic impairments, as revealed with (1)H-MRS. We have previously detected biochemical disturbances in MCD lesions with phosphorus-31 magnetic ...

journal_title：Brain & development

authors： Andrade CS,Otaduy MC,Valente KD,Park EJ,Kanas AF,Silva Filho MR,Tsunemi MH,Leite CC

更新日期：2014-11-01 00:00:00

abstract：:To elucidate the nature of an overabundance of collagen seen on microscopic examination in tuberous sclerous (TS), the hydroxyproline content in tissues and urine was determined. TS tissues of 5 patients were obtained on necropsy or plastic surgery. Urine was collected from 10 patients with TS and 19 controls. Tumors ...

journal_title：Brain & development

authors： Tanaka H,Arima M

更新日期：1981-01-01 00:00:00

abstract：:This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...

journal_title：Brain & development

authors： Tokushige S,Sonoo T,Maekawa R,Shirota Y,Hanajima R,Terao Y,Matsumoto H,Hossain MA,Sakai N,Shiio Y

更新日期：2013-06-01 00:00:00

abstract：:We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids sh...

journal_title：Brain & development

authors： Sugita K,Kakinuma H,Okajima Y,Ogawa A,Watanabe H,Niimi H

更新日期：1995-03-01 00:00:00

abstract：:We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...

journal_title：Brain & development

authors： Saikusa T,Hara M,Iwama K,Yuge K,Ohba C,Okada JI,Hisano T,Yamashita Y,Okamoto N,Saitsu H,Matsumoto N,Matsuishi T

更新日期：2018-05-01 00:00:00

abstract：:Neural stem cells (NSCs)of the central nervous system (CNS) have recently received a great deal of attention and interest for their therapeutic potential for neurological disorders. NSCs are defined as CNS progenitor cells that have the capacity for self-renewal and multipotent potential to become neurons or glial cel...

journal_title：Brain & development

authors： Kim SU

更新日期：2007-05-01 00:00:00

abstract：:Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...

journal_title：Brain & development

authors： Hori D,Hasegawa Y,Kimura M,Yang Y,Verma IC,Yamaguchi S

更新日期：2005-01-01 00:00:00

abstract：:Cystic lesions of the posterior fossa remain a controversial subject as to clinical classification and diagnosis, especially for those in combination with other intracranial abnormalities. During the period of November 1985 to June 1991, 16 patients with cystic lesions of the posterior fossa were retrospectively revie...

journal_title：Brain & development

authors： Tan EC,Takagi T,Karasawa K

更新日期：1995-11-01 00:00:00

abstract：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...

journal_title：Brain & development

authors： Kodama Y,Sameshima H,Ikenoue T

更新日期：2016-04-01 00:00:00

abstract：:In this report, we reviewed the characteristics of motor development and motor symptoms of Rett Syndrome (RTT) and demarcated the early and pathognomonic motor symptom which correlates to the impairment of the higher cortical function (HCF) assessed by the ability of language. It is suggested that failure of locomotio...

journal_title：Brain & development

authors： Segawa M

更新日期：2001-12-01 00:00:00

abstract：BACKGROUND:Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phen...

journal_title：Brain & development

authors： Ito S,Nagumo K,Nishikawa A,Oguni H,Nagata S

更新日期：2021-01-15 00:00:00

abstract：:Hereditary progressive dystonia (HPD) with marked diurnal fluctuation is caused by mutant guanosine triphosphate (GTP) cyclohydrolase I (GCH). The clinical presentation of dominant HPD varies considerably. We proposed the hypothesis that a relative increase of mutant GCH capable of inhibiting normal GCH is responsible...

journal_title：Brain & development

authors： Ueno S,Hirano M

更新日期：2000-09-01 00:00:00

abstract：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...

journal_title：Brain & development

authors： Montassir H,Maegaki Y,Murayama K,Yamazaki T,Kohda M,Ohtake A,Iwasa H,Yatsuka Y,Okazaki Y,Sugiura C,Nagata I,Toyoshima M,Saito Y,Itoh M,Nishino I,Ohno K

更新日期：2015-08-01 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：OBJECTIVE:Spontaneous movements at 2 months of corrected age in preterm infants with intellectual disability (ID) were investigated by assessing individual motor elements separated from movements involving the entire body. METHODS:Video recordings of 20 preterm infants with ID (16 males, 4 females; median gestational ...

journal_title：Brain & development

authors： Kouwaki M,Yokochi M,Kamiya T,Yokochi K

更新日期：2014-08-01 00:00:00

abstract：:3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We repor...

journal_title：Brain & development

authors： Ozand PT,Rashed M,Gascon GG,al Odaib A,Shums A,Nester M,Brismar J

更新日期：1994-11-01 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...

journal_title：Brain & development

authors： Kobayashi Y,Ohashi T,Akasaka N,Tohyama J

更新日期：2012-08-01 00:00:00

abstract：:A 10-year-old boy with psychomotor developmental delay and cerebellar vermis atrophy developed right hemiplegia with vomiting, unconsciousness, convulsions, and late-onset fever. Slow delta activity was noted over the left hemisphere on electroencephalography, and neuroimaging revealed swelling of the left temporo-occ...

journal_title：Brain & development

authors： Ohmura K,Suzuki Y,Saito Y,Wada T,Goto M,Seto S

更新日期：2012-09-01 00:00:00

abstract：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...

journal_title：Brain & development

authors： Gordon CR,Bar-Ziv Y,Frydman M,Zlotogora J,Gadoth N

更新日期：1990-01-01 00:00:00