abstract：:Prominent dysphagia is seen among patients with spinal muscular atrophy (SMA) type 2, especially at the late stage of their disease progression. Nasogastric tube feeding and gastrostomy are commonly utilized to maintain their nutritional status. However, choosing a treatment strategy to maintain appropriate nutritiona...

journal_title：Brain & development

authors： Suzukia Y,Sano N,Shinonaga C,Fukuda M,Hyodo M,Morimoto T

更新日期：2007-11-01 00:00:00

abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...

journal_title：Brain & development

authors： Ming X,Brimacombe M,Wagner GC

更新日期：2007-10-01 00:00:00

abstract：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...

journal_title：Brain & development

authors： Afenjar A,Moutard ML,Doummar D,Guët A,Rabier D,Vermersch AI,Mignot C,Burglen L,Heron D,Thioulouse E,de Villemeur TB,Campion D,Rodriguez D

更新日期：2007-10-01 00:00:00

abstract：:Eighty participants (62 males; 18 females; age range: 6-16 years) took part in the study, comprising four groups of 20 subjects each: TS-only, ADHD-only, TS+ADHD, controls. The age distributions, did not differ significantly among the four groups. The severity of symptoms, assessed by the TSGS, did not differ signific...

journal_title：Brain & development

authors： Rizzo R,Curatolo P,Gulisano M,Virzì M,Arpino C,Robertson MM

更新日期：2007-08-01 00:00:00

abstract：:The severity of intellectual sequelae and prognosis varies in patients with congenital ocular motor apraxia (COMA). Here, we explored this phenomenon with regard to the accompanying oculomotor signs and gross motor development, as well as the subtentorial structure defects. Ten patients diagnosed with COMA (M:F=4:6, 4...

journal_title：Brain & development

authors： Kondo A,Saito Y,Floricel F,Maegaki Y,Ohno K

更新日期：2007-08-01 00:00:00

abstract：:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...

journal_title：Brain & development

authors： Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş S

更新日期：2007-07-01 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：:Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coef...

journal_title：Brain & development

authors： Sijens PE,Fock JM,Meiners LC,Potze JH,Irwan R,Oudkerk M

更新日期：2007-06-01 00:00:00

abstract：:We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...

journal_title：Brain & development

authors： Oguz KK,Celebi A,Anlar B

更新日期：2007-06-01 00:00:00

abstract：:MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...

journal_title：Brain & development

authors： Campos M Jr,Abdalla CB,Santos-Rebouças CB,dos Santos AV,Pestana CP,Domingues ML,dos Santos JM,Pimentel MM

更新日期：2007-06-01 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：: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：:Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...

journal_title：Brain & development

authors： Rajadhyax M,Neti G,Crow Y,Tyagi A

更新日期：2007-05-01 00:00:00

abstract：:A 6-month-old boy with persistent primitive trigeminal artery (PPTA) presented with stridor, dysphagia, delayed motor development and postural neck and shoulder dystonia. Magnetic resonance imaging/angiography and ultrasonography revealed PPTA, with flow from the dilated basilar artery to the right internal carotid ar...

journal_title：Brain & development

authors： Okanishi T,Saito Y,Miki S,Nagaishi J,Hanaki K,Tomita Y,Fukuda C,Fujii S,Fujiwara K,Kawamoto K,Hata F,Maegaki Y,Ohno K

更新日期：2007-04-01 00:00:00

abstract：:Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosino...

journal_title：Brain & development

authors： Sakuta R,Tomita Y,Ohashi M,Nagai T,Murakami N

更新日期：2007-04-01 00:00:00

abstract：:Tourette's syndrome is manifested in a broad spectrum of motor, vocal, and behavioral disturbances. Movement disorders, such as tics, may contribute to the development of cervical myelopathy owing to the effects of involuntary movements on the neck. However, the association of cervical myelopathy with motor tics of th...

journal_title：Brain & development

authors： Lin JJ,Wang HS,Wong MC,Wu CT,Lin KL

更新日期：2007-03-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy is a demyelinating disease caused by JC virus, an opportunistic infection of the central nervous system. Although the majority of cases are infected with the human immunodeficiency virus (HIV), other immunocompromised patients are also at risk. Purine nucleoside phosphorylase...

journal_title：Brain & development

authors： Parvaneh N,Ashrafi MR,Yeganeh M,Pouladi N,Sayarifar F,Parvaneh L

更新日期：2007-03-01 00:00:00

abstract：:The aim of this study is to reveal detailed clinical manifestations and an evolution of ictal EEG discharges of convulsions with mild gastroenteritis (CwG). We recorded ictal EEGs of six patients with CwG. Clinical manifestations included loss of responsiveness, motion arrest, cyanosis, lateral eye deviation, and hemi...

journal_title：Brain & development

authors： Maruyama K,Okumura A,Sofue A,Ishihara N,Watanabe K

更新日期：2007-01-01 00:00:00

abstract：:We recorded serially brainstem auditory evoked response (BAER) during the neonatal period in term infants who suffered perinatal asphyxia. The amplitudes of BAER components was analysed at 40 dB above BAER threshold of each subject who had a threshold

journal_title：Brain & development

authors： Jiang ZD,Shao XM,Wilkinson AR

更新日期：2006-10-01 00:00:00

abstract：:We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...

journal_title：Brain & development

authors： Iwasaki H,Watanabe H,Iida M,Ogawa S,Tabe M,Higaki K,Nanba E,Suzuki Y

更新日期：2006-09-01 00:00:00

abstract：:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...

journal_title：Brain & development

authors： Abdel-Salam GM,Shehab M,Zaki MS

更新日期：2006-09-01 00:00:00

abstract：:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...

journal_title：Brain & development

authors： Anzai Y,Hayashi M,Fueki N,Kurata K,Ohya T

更新日期：2006-08-01 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：: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：:Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studie...

journal_title：Brain & development

authors： Koishi S,Yamamoto K,Matsumoto H,Koishi S,Enseki Y,Oya A,Asakura A,Aoki Y,Atsumi M,Iga T,Inomata J,Inoko H,Sasaki T,Nanba E,Kato N,Ishii T,Yamazaki K

更新日期：2006-05-01 00:00:00

abstract：:Congenital neuromuscular disease with uniform type 1 fibers is a rare form of congenital nonprogressive myopathy. We report a 3-year-old boy with this disease who showed delayed motor developmental milestones and recurrent acute respiratory failure. He obtained head control at 16 months, crawled at 17 months and sat a...

journal_title：Brain & development

authors： Sakamoto HM,Yoshioka M,Tsuji M,Kuroki S,Higuchi Y,Nonaka I,Nishino I

更新日期：2006-04-01 00:00:00

abstract：:To study the efficacy of adrenocorticotrophic hormone (ACTH) in treating Taiwanese children with West syndrome (WS) and the impact on long-term prognosis, 66 patients with WS (54 symptomatic and 12 cryptogenic) were collected from 1987 to 1998 in a medical center in Taiwan. A total of 53 patients were enrolled in this...

journal_title：Brain & development

authors： Lin HC,Young C,Wang PJ,Lee WT,Shen YZ

更新日期：2006-04-01 00:00:00

abstract：INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...

journal_title：Brain & development

authors： Distelmaier F,Sengler U,Messing-Juenger M,Assmann B,Mayatepek E,Rosenbaum T

更新日期：2006-04-01 00:00:00

abstract：:We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neu...

journal_title：Brain & development

authors： Nobutoki T,Sasaki M,Fukumizu M,Hanaoka S,Sugai K,Anzai Y,Kaga M

更新日期：2006-01-01 00:00:00

abstract：:We evaluated brain lesions in patients with coronary arterial lesions (CAL) as a complication of Kawasaki disease (KD) by magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). Among 47 patients who underwent coronary angiography for the evaluation of CAL due to KD at Kyushu University Hospital fro...

journal_title：Brain & development

authors： Muneuchi J,Kusuhara K,Kanaya Y,Ohno T,Furuno K,Kira R,Mihara F,Hara T

更新日期：2006-01-01 00:00:00

abstract：:Continuous and simultaneous registration of electroencephalogram (EEG) and heart rate (HR) pattern in preterm infants can give information about the functioning of central nervous system and the integrity of the autonomic nervous system. The developmental and behavioural state determine the pattern of EEG activity. A ...

journal_title：Brain & development

authors： Pfurtscheller K,Müller-Putz GR,Urlesberger B,Dax J,Müller W,Pfurtscheller G

更新日期：2005-12-01 00:00:00

abstract：:We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosi...

journal_title：Brain & development

authors： Budden SS,Dorsey HC,Steiner RD

更新日期：2005-11-01 00:00:00

abstract：:The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity scor...

journal_title：Brain & development

authors： Kerr AM,Prescott RJ

更新日期：2005-11-01 00:00:00

abstract：:A 1-year-old female with acute bilateral striatal necrosis secondary to exanthema subitum associated with human herpesvirus 6 (HHV-6) infection is reported. The patient was previously healthy. She presented with progressive neurologic signs of oral dyskinesia and involuntary movements, after suffering from exanthema s...

journal_title：Brain & development

authors： Murakami A,Morimoto M,Adachi S,Ishimaru Y,Sugimoto T

更新日期：2005-10-01 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：: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：:Forty-eight subjects with Tourette syndrome (M 36, F 12; mean age 11.2 years) and 48 with chronic tic disorder (M 33, F 15; mean age 12.1 years) were recruited in order to study the vertical transmission within families of a vulnerability to tic disorders or to other psychiatric disorders, the role of adverse pre- and...

journal_title：Brain & development

authors： Saccomani L,Fabiana V,Manuela B,Giambattista R

更新日期：2005-08-01 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：:Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized...

journal_title：Brain & development

authors： Gobbi G

更新日期：2005-04-01 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