Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A.

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

abstract：:The correlation between the functional and morphological maturation of the auditory pathway was studied in preterm and term infants, children and adults. As to the auditory brainstem response (ABR), peak latencies and I-V interpeak latencies (central transmission) gradually decreased during the third trimester and the...

journal_title：Brain & development

authors： Inagaki M,Tomita Y,Takashima S,Ohtani K,Andoh G,Takeshita K

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：: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：:The abnormal patterns of cerebral convolutions range from severe to small anomalies restricted to tertiary gyri and sulci. Lesions within Glial-Pial barrier were found in examined cases with cortical developmental abnormalities. Anomalies and impaired function of vessels penetrating the cortex from meningeal plexus co...

journal_title：Brain & development

authors： Dambska M,Laure-Kamionowska M

更新日期：2001-07-01 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：:We describe three patients with the limb pain of complex regional pain syndrome (CRPS) in childhood with autonomic nervous system function involvement. Their autonomic nerve abnormality was non-invasively examined by means of laser doppler flowmetry (LDF) and a sympathetic skin response (SSR) test. In one it was resol...

journal_title：Brain & development

authors： Matsui M,Ito M,Tomoda A,Miike T

更新日期：2000-10-01 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：: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：:Event-related potential (ERP) studies with infants are often limited by a small number of measurements. We introduce a weighted general linear mixed model analysis with a time-varying covariate, which allows for the efficient analysis of all available event-related potential data of infants. This method allows control...

journal_title：Brain & development

authors： Stahl D,Parise E,Hoehl S,Striano T

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...

journal_title：Brain & development

authors： Komur M,Ozen S,Okuyaz C,Makharoblıdze K,Erdogan S

更新日期：2013-05-01 00:00:00

abstract：:Here we describe two patients with 5p- syndrome who suffered from epilepsy characterised by stimulus-induced epileptic spasms manifesting as head nodding. In patient 1, a series of spasms were exclusively triggered by eating, and were associated with diffuse high-voltage slow waves on ictal EEG, particularly presentin...

journal_title：Brain & development

authors： Shirai K,Saito Y,Yokoyama A,Nishimura Y,Tamasaki A,Maegaki Y

更新日期：2016-02-01 00:00:00

abstract：:Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibro...

journal_title：Brain & development

authors： Ida H,Rennert OM,Watabe K,Eto Y,Maekawa K

更新日期：1994-11-01 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：BACKGROUND:The abducens nucleus directly innervates the lateral rectus muscle and plays a role in controlling conjugate horizontal eye movements. Although the neuronal cytoarchitecture of the abducens nucleus has been extensively investigated in various species of vertebrates, few studies have been undertaken in humans...

journal_title：Brain & development

authors： Yamaguchi K,Honma K

更新日期：2012-10-01 00:00:00

abstract：:We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as ...

journal_title：Brain & development

authors： Hanai S,Komaki H,Sakuma H,Nakagawa E,Sugai K,Sasaki M,Oya Y,Higurashi N,Hamano S

更新日期：2011-02-01 00:00:00

abstract：:The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...

journal_title：Brain & development

authors： Nishioka J,Akita Y,Yatsuga S,Katayama K,Matsuishi T,Ishibashi M,Koga Y

更新日期：2008-02-01 00:00:00

abstract：:Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in th...

journal_title：Brain & development

authors： Watanabe K,Hara K,Miyazaki S,Iwase K

更新日期：1979-01-01 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 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：PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...

journal_title：Brain & development

authors： Wo SB,Lee JH,Lee YJ,Sung TJ,Lee KH,Kim SK

更新日期：2013-04-01 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：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...

journal_title：Brain & development

authors： Ogasawara M,Ishiyama A,Sugiura A,Segawa K,Nonaka I,Takeshita E,Shimizu-Motohashi Y,Komaki H,Sasaki M

更新日期：2018-04-01 00:00:00

abstract：:Two children treated for status epilepticus had low plasma phenytoin levels during enteral feeding, despite adequate oral dosage. The target range (10-20 mg/l) was achieved when feeds were stopped, or when intravenous phenytoin was used. Enteral feeding may interfere with the absorption of oral phenytoin thereby compr...

journal_title：Brain & development

authors： O'Hagan M,Wallace SJ

更新日期：1994-03-01 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：:Different phases of brain growth precede maturation as indicated in the developmental course of brain electrical activity. This can be illustrated by EEG and evoked potentials recorded from the scalp from a postmenstrual age of 24 weeks. A description of electrical patterns according to postmenstrual age is valid beca...

journal_title：Brain & development

authors： Eeg-Olofsson O

更新日期：1980-01-01 00:00:00

abstract：:Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditor...

journal_title：Brain & development

authors： Nakamura M,Yamagata T,Mori M,Momoi MY

更新日期：2005-03-01 00:00:00

abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...

journal_title：Brain & development

authors： Giacobbe A,Ajmone PF,Milani D,Avignone S,Triulzi F,Gervasini C,Menni F,Monti F,Biffi D,Canavesi K,Costantino MA

更新日期：2016-06-01 00:00:00

abstract：:154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...

journal_title：Brain & development

authors： Dulac O,Steru D,Rey E,Perret A,Arthuis M

更新日期：1986-01-01 00:00:00

abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...

journal_title：Brain & development

authors： Fukazawa M,Tezuka J,Sasazuki M,Masumoto N,Baba H,Doi T,Tsutsumi Y,Mizuno Y,Mihara F,Nakayama H

更新日期：2018-02-01 00:00:00