Rett syndrome: report of eight cases.

abstract：:The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in cl...

journal_title：Brain & development

authors： Dunn HG

更新日期：2001-12-01 00:00:00

abstract：:Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...

journal_title：Brain & development

authors： Badr GG,Witt-Engerström I,Hagberg B

更新日期：1987-01-01 00:00:00

abstract：BACKGROUND:Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding a...

journal_title：Brain & development

authors： Battini R,Olivieri G,Milone R,Mazio F,Scalise R,Verdolotti T,Primiano G,Genovese O,Mercuri E,Servidei S

更新日期：2020-06-01 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：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：:Neurofibrillary tangles (NFTs) have been shown in 20% of subacute sclerosing panencephalitis (SSPE) cases. NFTs contain paired helical filaments formed by hyperphosphorylated tau. The intraneuronal tau metabolism and the rate of formation of paired helical filaments can be regulated by interactions between tau and iso...

journal_title：Brain & development

authors： Yüksel D,Ichiyama T,Yilmaz D,Anlar B

更新日期：2012-04-01 00:00:00

abstract：OBJECTIVE:As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reli...

journal_title：Brain & development

authors： Aoki S,Hashimoto K,Mezawa H,Hatakenaka Y,Yasumitsu-Lovell K,Suganuma N,Ohya Y,Wilson P,Fernell E,Kamio Y,Gillberg C

更新日期：2018-06-01 00:00:00

abstract：:We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnos...

journal_title：Brain & development

authors： Hayashi M,Hayakawa K,Suzuki F,Sugita K,Satoh J,Morimatsu Y

更新日期：1992-01-01 00:00:00

abstract：BACKGROUND:Nutritional deficiency in pregnant women is a confirmed cause of neural tube defects (NTDs). Alongside to this background, We sought to determine the nutritional status and level of awareness on the issue of the NTDs as well as folic acid (FA) utilization among women who born infants with NTDs in Tigray regi...

journal_title：Brain & development

authors： Welderufael AL,Berihu BA,Berhe Y,Magana T,Asfaw S,Gebreselassie K,Belay E,Kebede H,Mulugeta A

更新日期：2019-05-01 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：BACKGROUND:Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estim...

journal_title：Brain & development

authors： Okamoto K,Motoki T,Saito I,Urate R,Aibara K,Jogamoto T,Fukuda M,Wakamoto H,Maniwa S,Kondo Y,Toda Y,Goji A,Mori T,Soga T,Konishi Y,Nagai S,Takami Y,Tokorodani C,Nishiuchi R,Usui D,Ando R,Tada S,Yamanishi Y,Na

更新日期：2020-09-01 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：:Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy wit...

journal_title：Brain & development

authors： Roubertie A,Biolsi B,Rivier F,Humbertclaude V,Cheminal R,Echenne B

更新日期：2003-09-01 00:00:00

abstract：:Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...

journal_title：Brain & development

authors： DeToledo JC

更新日期：1999-04-01 00:00:00

abstract：:For the purpose of early detection and intervention in mentally handicapped children, the mental retardation (MR) Monitoring Research Committee in Japan initiated a survey in 1981 to determine the prevalence rate and etiology of MR children who had been born between 1969 and 1974, that's those currently from 7 to 12 y...

journal_title：Brain & development

authors： Shiotsuki Y,Matsuishi T,Yoshimura K,Yamashita F,Yano K,Tokimasa H,Shoji H

更新日期：1984-01-01 00:00:00

abstract：:A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, ...

journal_title：Brain & development

authors： Ferlini A,Ansaloni L,Nobile C,Forabosco A

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVE:We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy. METHODS:We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations wi...

journal_title：Brain & development

authors： Abe S,Okumura A,Hamano S,Tanaka M,Shiihara T,Aizaki K,Tsuru T,Toribe Y,Arai H,Shimizu T

更新日期：2011-01-01 00:00:00

abstract：:The authors report a case of early infantile epileptic encephalopathy (EIEE) associated with hemimegalencephaly. The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic c...

journal_title：Brain & development

authors： Bermejo AM,Martin VL,Arcas J,Perez-Higueras A,Morales C,Pascual-Castroviejo I

更新日期：1992-11-01 00:00:00

abstract：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...

journal_title：Brain & development

authors： Dubey R,Kaushik JS,Israni A,Saini L,Patel H,Chakrabarty B,Gulati S

更新日期：2016-02-01 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：: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

authors： Okumura A,Hayakawa F,Kato T,Itomi K,Maruyama K,Kubota T,Suzuki M,Kidokoro H,Watanabe K

更新日期：2008-04-01 00:00:00

abstract：:Various abnormalities of sleep have been reported in extrapyramidal diseases in adults. We have investigated the disturbances of REM sleep (SREM) in severe athetoid cerebral palsy (ACP) originating perinatally. Ten ACP patients, 5 males and 5 females ranging from 15 to 30 years old, were studied by means of all-night ...

journal_title：Brain & development

authors： Hayashi M,Inoue Y,Iwakawa Y,Sasaki H

更新日期：1990-01-01 00:00:00

abstract：:Cat scratch disease (CSD) is a zoonotic illness caused by the Gram negative bacillus Bartonella henselae characterized by a small skin lesion at the site of a bite, lick or scratch by a cat, commonly followed by regional lymphadenopathy 1 or 2 weeks later. We report herein on severe neurological complications of CSD c...

journal_title：Brain & development

authors： Genizi J,Kasis I,Schif A,Shahar E

更新日期：2007-07-01 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 seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electrom...

journal_title：Brain & development

authors： Yamanouchi H,Kasai H,Sakuragawa N,Kurokawa T

更新日期：1991-09-01 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：:Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...

journal_title：Brain & development

authors： Wang J,Wang H,Wang Y,Chen T,Wu X,Jiang Y

更新日期：2010-03-01 00:00:00

abstract：:Three cases of Lesch-Nyhan syndrome (LNS) were examined by polysomnography to assess the brainstem function, and to determine the causes of the neurological manifestations and sudden death in this syndrome. In the two older cases, the amount of slow wave and rapid eye movement (REM) sleep, the REM density and the freq...

journal_title：Brain & development

authors： Saito Y,Hanaoka S,Fukumizu M,Morita H,Ogawa T,Takahashi K,Ito M,Hashimoto T

更新日期：1998-12-01 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：OBJECTIVE:This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. METHODS:An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 male...

journal_title：Brain & development

authors： Ohta M,Kano Y

更新日期：2003-12-01 00:00:00