Abstract：
:Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the 312 patients identified in the database was 1:1.29. The median age at onset was 25years (range 2-76years), with 31.3% of patients exhibiting symptoms at <20years of age. Patients with an age at onset of <20years were found to have more frequent spinal cord and extravestibular cranial nerve involvement, cutaneous signs, and convulsions than patients with a later age at onset. Of patients younger than 18years of age, half did not exhibit hearing problems; in contrast, they frequently had other cranial nerve schwannomas, cranial meningioma, spinal cord tumors, and subcutaneous schwannoma. There were weak but significant positive correlations between symptomatic periods and disability scores in patients with an age of onset of ⩾20years (R=0.225; P<0.01) and those with an earlier age of onset (R=0.306; P<0.01). Although there were no significant differences in disability scores between genders or patients with an age at onset of <20 versus ⩾20years, patients with an earlier age at onset had significantly higher disability scores for spinal symptoms than patients with an age at onset of ⩾20years. Atypical extravestibular presentation is common in early onset NF2, with more prominent spinal symptoms.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Matsuo M,Ohno K,Ohtsuka Fdoi
10.1016/j.braindev.2013.01.007subject
Has Abstractpub_date
2014-02-01 00:00:00pages
148-52issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(13)00025-9journal_volume
36pub_type
杂志文章abstract：:In order to reveal the pathophysiology of photoparoxysmal responses (PPRs) in photosensitive patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA) who had expansion of the CAG repeat in the DRPLA gene, we studied the characteristics of PPRs using optical filters with specific wavelength transmission. I...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00022-3
更新日期：1997-06-01 00:00:00
abstract：:Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We repo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.10.005
更新日期：2019-03-01 00:00:00
abstract：BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 vari...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.06.011
更新日期：2015-04-01 00:00:00
abstract：:Findings from a Golgi study of the visual cortex in patients with the Down syndrome were compared with those from neurologically normal, age-matched control subjects. The dendritic atrophy seen in childhood continued into adulthood, with a marked decrease in dendritic branching, dendritic length, and spine frequency i...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80082-8
更新日期：1989-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.014
更新日期：2010-01-01 00:00:00
abstract：:Transmission of information in the brain is of a chemical nature. Neurotransmitters are present at very early stages of brain development, having trophic effects on maturation of target neurons as well as mediating the behavioral repertoire of the immature brain. Many centrally acting psychoactive drugs which are comm...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80058-4
更新日期：1986-01-01 00:00:00
abstract：:Potassium bromide was tried for two children with daily convulsive focal motor seizures with unconsciousness and focal motor seizure status. The treatment resulted in complete cessation of the attacks. It has been reported that bromide is effective for generalized tonic-clonic seizures and not for complex partial seiz...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00023-2
更新日期：2002-04-01 00:00:00
abstract：OBJECTIVE:To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. METHODS:The video-electroencephalogram (VEEG) database in our hospital was searched using "absence seizures" and "3-Hz generalized spike and waves (GSW)" as key-words. Other ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.02.004
更新日期：2011-02-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80024-2
更新日期：1983-01-01 00:00:00
abstract：BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.006
更新日期：2015-08-01 00:00:00
abstract：:A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypop...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.07.003
更新日期：2010-08-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80045-7
更新日期：1988-01-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80063-3
更新日期：1987-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.01.007
更新日期：2005-12-01 00:00:00
abstract：:We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80063-4
更新日期：1989-01-01 00:00:00
abstract：INTRODUCTION:Primary generalized dystonia is a rare movement disorder. Medical treatment rarely relieves symptoms. The aim of this study was to investigate the efficacy and safety of bilateral pallidal stimulation in 6 children and adolescents with primary generalized dystonia. In addition, we strived to find predictor...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/j.braindev.2009.03.010
更新日期：2010-03-01 00:00:00
abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00077-6
更新日期：1997-12-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00054-8
更新日期：2003-09-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.10.007
更新日期：2005-11-01 00:00:00
abstract：:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.03.015
更新日期：2015-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.08.015
更新日期：2007-06-01 00:00:00
abstract：:Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.01.002
更新日期：2012-01-01 00:00:00
abstract：:The efficacy, serum concentration and side effects of CBZ for partial seizures in children were evaluated. The study was undertaken on 27 patients with partial seizures ranging from 5 to 17 years of age. Further 15 patients with various types of epilepsy taking CBZ with other anticonvulsants were selected as controls ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80017-0
更新日期：1979-01-01 00:00:00
abstract：:In children, the conditions defined as "ataxia" form a very heterogeneous group. They also often differ from the "ataxias" of adults. In many cases this can be attributed to their different etiology, but probably it is also due to the peculiar functional and physiopathologic characteristics of the cerebellar system du...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80324-x
更新日期：1990-01-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.013
更新日期：2015-08-01 00:00:00
abstract：AIMS:Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive j...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.02.005
更新日期：2014-02-01 00:00:00
abstract：:To investigate the development of the voluntary control of saccadic eye movement, we examined eye movements in 99 normal children (4-13 years of age). Subjects were asked to fixate a central light for 3-5 s. A target was then presented, either to its right or left. In visually guided saccades, the mean latencies of th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00101-7
更新日期：2000-05-01 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
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90058-2
更新日期：1994-03-01 00:00:00
abstract：:We report herein the case of a 9-year-old girl with life-threatening hyperkinetic involuntary movement of unknown etiology. Medical treatment was ineffective for her stereotypy and choreoathetotic/ballistic movements, but bilateral stimulation of the globus pallidus immediately alleviated these symptoms. Pallidal deep...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.08.003
更新日期：2009-06-01 00:00:00
abstract：:The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(80)80026-x
更新日期：1980-01-01 00:00:00
