Inflammatory neuropathology of infantile Alexander disease: A case report.

abstract：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...

journal_title：Brain & development

authors： Kurahashi N,Miyake N,Mizuno S,Koshimizu E,Kurahashi H,Yamada K,Natsume J,Aoki Y,Nakamura M,Taniai H,Maki Y,Abe-Hatano C,Matsumoto N,Maruyama K

更新日期：2017-09-01 00:00:00

abstract：:The developmental expression of monocyte chemoattractant protein-1 (MCP-1) in the cerebellum, medulla oblongata and pons was investigated in 26 normal human brains, ranging from 20 weeks of gestation (GW) to adulthood by means of an immunohistochemical method. Immunoreactivity to MCP-1 was observed in neurons of the c...

journal_title：Brain & development

authors： Meng SZ,Oka A,Takashima S

更新日期：1999-01-01 00:00:00

abstract：:Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...

journal_title：Brain & development

authors： Uemura N,Matsumoto A,Nakamura M,Watanabe K,Negoro T,Kumagai T,Miura K,Ohki T,Mizuno S,Okumura A,Aso K,Hayakawa F,Kondo Y

更新日期：2005-08-01 00:00:00

abstract：BACKGROUND:Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. CASE DESCRIPTION:A 12 year old girl, presented with history of fever for 10 days, painful swe...

journal_title：Brain & development

authors： Gupta J,Chakrabarty B,Singh G,Singh S,Kumar A,Xess I,Jauhari P,Gulati S

更新日期：2021-01-01 00:00:00

abstract：OBJECTIVES:Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clin...

journal_title：Brain & development

authors： Kashimada A,Hasegawa S,Nomura T,Shiraku H,Moriyama K,Suzuki T,Nakajima K,Mizuno T,Imai K,Sugawara Y,Morio T,Kumada S,Takagi M

更新日期：2019-02-01 00:00:00

abstract：:We studied the relationship between theophylline and memory/learning using an elevated plus-maze test and measuring spontaneous locomotor activity in developing mice. There were no significant differences in transfer latency (TL) in 21-, 30- and 42-day-old mice in the acquisition trial, but theophylline significantly ...

journal_title：Brain & development

authors： Hirose M,Yokoyama H,Iinuma K

更新日期：2004-10-01 00:00:00

abstract：:Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers....

journal_title：Brain & development

authors： Gu YH,Kodama H,Sato E,Mochizuki D,Yanagawa Y,Takayanagi M,Sato K,Ogawa A,Ushijima H,Lee CC

更新日期：2002-10-01 00:00:00

abstract：:We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnos...

journal_title：Brain & development

authors： Van Erven PM,Colon EJ,Gabreëls FJ,Renier WO,Vingerhoets DM

更新日期：1986-01-01 00:00:00

abstract：:Penicillin (PC) neurotoxicity (convulsions and encephalopathy) is considered to be due to GABAergic inhibition. The effects of penicillin G(PCG) on [3H]flunitrazepam (FNZ) binding in rat neuron-enriched primary cultures was examined to assess the role of the benzodiazepine (BDZ) receptor in the neurotoxicity. PCG appl...

journal_title：Brain & development

authors： Shiraishi H,Ito M,Go T,Mikawa H

更新日期：1993-09-01 00:00:00

abstract：:Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...

journal_title：Brain & development

authors： Moog U,Van Roozendaal K,Smeets E,Tserpelis D,Devriendt K,Buggenhout GV,Frijns JP,Schrander-Stumpel C

更新日期：2006-06-01 00:00:00

abstract：:Infantile myositis, observed in the neonatal period, is rare and may be confused with congenital muscular dystrophy. The patient presented here showed evidence of a myopathy with in utero onset with intrauterine growth retardation and decreased fetal movements. A muscle biopsy demonstrated characteristic perifascicula...

journal_title：Brain & development

authors： Vajsar J,Jay V,Babyn P

更新日期：1996-09-01 00:00:00

abstract：BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...

journal_title：Brain & development

authors： Ouyang CS,Chiang CT,Yang RC,Wu RC,Wu HC,Lin LC

更新日期：2018-01-01 00:00:00

abstract：:We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomogra...

journal_title：Brain & development

authors： Miyahara-Katayama A,Ohya Y,Omi T,Komaki H,Nonaka I,Sato N,Sasaki M

更新日期：2010-04-01 00:00:00

abstract：:The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...

journal_title：Brain & development

authors： Katayama F,Miura H,Takanashi S

更新日期：2002-04-01 00:00:00

abstract：:MPS type II (Hunter disease) results from deficiency of the lysosomal enzyme iduronate-2-sulfate sulfatase. Two forms of the disease have been recognized, based on absence or presence of progressive intellectual deterioration. This study aimed to assess activities of daily life (ADL) in 27 Hunter disease-affected Japa...

journal_title：Brain & development

authors： Kato T,Kato Z,Kuratsubo I,Ota T,Orii T,Kondo N,Suzuki Y

更新日期：2007-06-01 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：: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

authors： Matsushita K,Yoshioka H,Fushiki S,Hirai K,Kihara M,Kadono N,Hasegawa K,Goma H,Sawada T

更新日期：1997-11-01 00:00:00

abstract：:The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...

journal_title：Brain & development

authors： Neville BG,Gindner D

更新日期：2010-01-01 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

authors： Kuwajima M,Goto M,Kurane K,Shimbo H,Omika N,Jimbo EF,Muramatsu K,Tajika M,Shimura M,Murayama K,Kurosawa K,Yamagata T,Osaka H

更新日期：2019-05-01 00:00:00

abstract：:Teratological study on microgyra is rare, and its morphogenesis is still on dispute. Microgyra associated with cranial meningocele and progressive hydrocephalus were induced in rat siblings by administration of 10 mg/kg.bw of n-methyl n-nitrosourea (MNU) to rat dams on day 9 of gestation. Microgyra were closely simila...

journal_title：Brain & development

authors： Sato H,Sato N,Tamaki N,Matsumoto S

更新日期：1982-01-01 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：: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 an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...

journal_title：Brain & development

authors： Morioka M,Marubayashi T,Masumitsu T,Miura M,Ushio Y

更新日期：1995-05-01 00:00:00

abstract：:In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...

journal_title：Brain & development

authors： Mouridsen SE

更新日期：2003-06-01 00:00:00

abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...

journal_title：Brain & development

authors： Zhu J,Xu C,Zhang X,Qiao L,Wang X,Zhang X,Yan X,Ni D,Yu T,Zhang G,Li Y

更新日期：2021-01-01 00:00:00

abstract：:Previously we have observed different characteristic chromatographic ultraviolet absorbancy profiles at 280 nm for urinary protein precipitates from patients with behavioral disorders. The purpose with this study was to look for similar changes in urinary protein excretion from the grossly disabled patients with the R...

journal_title：Brain & development

authors： Foss I,Hagberg B,Trygstad O

更新日期：1985-01-01 00:00:00

abstract：:We examined the effects of stimulus rates on the somatosensory evoked potential (SEP) amplitudes following median nerve stimulation at the wrist in 42 children. We divided these subjects into five groups according to their age (0-6 months, 7-12 months, 1-3 years, 4-6 years and more than 7 years) and measured the peak-...

journal_title：Brain & development

authors： Araki A,Takada A,Yasuhara A,Kobayashi Y

更新日期：1999-03-01 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

authors： Oguni H,Otsuki T,Kobayashi K,Inoue Y,Watanabe E,Sugai K,Takahashi A,Hirose S,Kameyama S,Yamamoto H,Hamano S,Baba K,Baba H,Hong SC,Kim HD,Kang HC,Luan G,Wong TT

更新日期：2013-09-01 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

authors： Steinlin M,Schmitt B,Ferrini B

更新日期：1998-06-01 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