Multimodality evoked potentials in progression of metachromatic leukodystrophy.

abstract：:The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...

journal_title：Brain & development

authors： Wada N,Yamashita Y,Matsuishi T,Ohtani Y,Kato H

更新日期：2000-09-01 00:00:00

abstract：PURPOSE:Ictal fear is an uncommon condition in which fear manifests as the main feature of epileptic seizures. The literature has suggested that ictal fear is generally associated with poor seizure outcomes. We wanted to clarify the variability in seizure outcome of children with ictal fear. SUBJECTS AND METHODS:We id...

journal_title：Brain & development

authors： Akiyama M,Kobayashi K,Inoue T,Akiyama T,Yoshinaga H

更新日期：2014-10-01 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：:Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse...

journal_title：Brain & development

authors： Morita H,Imamura A,Matsuo N,Tatebayashi K,Omoya K,Takahashi Y,Tsujino S

更新日期：2006-08-01 00:00:00

abstract：:713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...

journal_title：Brain & development

authors： Imamura S,Sakuma K,Takahashi T

更新日期：1983-01-01 00:00:00

abstract：:Molecular background of neurogenetic disease is briefly reviewed. Importance and usefulness of genetic testing are emphasized. Molecular genetics is a powerful tool for investigation of epileptic syndromes. Diagnosis based on gene analysis will give a new insight for pathophysiology and clinical outcome of the patient...

journal_title：Brain & development

authors： Suzuki Y

更新日期：2011-10-01 00:00:00

abstract：:Cerebral palsy (CP) is a group of movement and posture disorders attributed to insults in the developing brain. In rats, CP-like motor deficits can be induced by early hind-limb sensorimotor restriction (SR; from postnatal days P2 to P28), associated or otherwise with perinatal anoxia (PA; on P0 and P1). In this study...

journal_title：Brain & development

authors： Marcuzzo S,Dutra MF,Stigger F,do Nascimento PS,Ilha J,Kalil-Gaspar PI,Achaval M

更新日期：2010-04-01 00:00:00

abstract：:Abnormalities of the cerebral arteries and the aorta are more common in young patients with tuberous sclerosis than in the rest of the population. Strokes have been reported but there is no confirmation that embolization of cerebral arteries by fragments of cardiac rhabdomyoma plays a role in the higher incidence of s...

journal_title：Brain & development

authors： Gomez MR

更新日期：1989-01-01 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

authors： Minami T,Ise K,Kukita J,Koyanagi T,Ueda K

更新日期：1994-01-01 00:00:00

abstract：BACKGROUND:Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. In a mouse model of AxD, the pathological astrocyte causes a pronounced immune response. The inflammatory environment in the brain might play an important role in the neuronal...

journal_title：Brain & development

authors： Kora K,Kato T,Ide M,Tanaka T,Yoshida T

更新日期：2020-01-01 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

authors： Yurov YB,Vostrikov VM,Vorsanova SG,Monakhov VV,Iourov IY

更新日期：2001-12-01 00:00:00

abstract：:Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apo...

journal_title：Brain & development

authors： Wang Y,Yuan Y,Gao Y,Li X,Tian F,Liu F,Du R,Li P,Wang F,Xu S,Wu X,Wang C

更新日期：2019-09-01 00:00:00

abstract：:Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...

journal_title：Brain & development

authors： Nakase H,Ohnishi H,Touho H,Karasawa J,Tsunoda S

更新日期：1994-09-01 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

authors： Percy AK,Zoghbi HY,Glaze DG

更新日期：1987-01-01 00:00:00

abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...

journal_title：Brain & development

authors： Otsuka T,Sunaga Y,Hikima A

更新日期：1994-11-01 00:00:00

abstract：BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...

journal_title：Brain & development

authors： Kimura S,Shiraishi H,Egawa K,Uchida M,Ueno M

更新日期：2021-01-01 00:00:00

abstract：:In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods...

journal_title：Brain & development

authors： Fleury P,de Groot WP,Delleman JW,Verbeeten B Jr,Frankenmolen-Witkiezwicz IM

更新日期：1980-01-01 00:00:00

abstract：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

journal_title：Brain & development

authors： Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

更新日期：2013-02-01 00:00:00

abstract：:The recent advances in neonatal neurology which are discussed include i) the improved organization of perinatal medical services, ii) technological advances including ultrasonography, brainstem auditory evoked responses and intracranial pressure monitoring and, iii) new developments in therapeutics. The development of...

journal_title：Brain & development

authors： Ouvrier RA

更新日期：1984-01-01 00:00:00

abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...

journal_title：Brain & development

authors： Fukuda M,Kawabe M,Takehara M,Iwano S,Kuwabara K,Kikuchi C,Wakamoto H,Morimoto T,Suzuki Y,Ishii E

更新日期：2015-09-01 00:00:00

abstract：:Recent advances in modern technologies have enabled us to investigate higher brain functions non-invasively in human subjects. These techniques include topographic analysis of the scalp-recorded electric potentials, recording of the magnetic field generated from the brain, measurement of regional cerebral blood flow c...

journal_title：Brain & development

authors： Shibasaki H

更新日期：1993-11-01 00:00:00

abstract：OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...

journal_title：Brain & development

authors： Kitai Y,Hirai S,Okuyama N,Hirotsune M,Nishimoto S,Mizutani S,Okumura A,Kumada S,Arai H

更新日期：2020-04-01 00:00:00

abstract：:Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within...

journal_title：Brain & development

authors： Hori A,Peiffer J,Pfeiffer RA,Iizuka R

更新日期：1980-01-01 00:00:00

abstract：:Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...

journal_title：Brain & development

authors： Hashimoto T,Hiura K,Suzue J,Nokawa T,Fukuda K,Endo S,Tayama M,Tamura Y,Miyao M

更新日期：1981-01-01 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：:Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...

journal_title：Brain & development

authors： Kimura K,Sugawara T,Mazaki-Miyazaki E,Hoshino K,Nomura Y,Tateno A,Hachimori K,Yamakawa K,Segawa M

更新日期：2005-09-01 00:00:00

abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...

journal_title：Brain & development

authors： Nozaki F,Kusunoki T,Okamoto N,Yamamoto Y,Miya F,Tsunoda T,Kosaki K,Kumada T,Shibata M,Fujii T

更新日期：2016-08-01 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

authors： Adachi T,Koeda T,Hirabayashi S,Maeoka Y,Shiota M,Wright EC,Wada A

更新日期：2004-08-01 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：:A 7-year-old boy began to complain that his pitch perception was decreased just after oral medication with carbamazepine was initiated for the treatment of epilepsy. When he played the piano, he felt as if he had played a musical note of almost a half pitch lower than he had. His pitch perception recovered soon after ...

journal_title：Brain & development

authors： Yoshikawa H,Abe T

更新日期：2003-03-01 00:00:00