Abstract:
:Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characterized by unusual, rapidly progressive developmental regression due to additional pathogenic mutation in ARSA. Considering the 1 in 100 chance of an MLD carrier, co-occurrence of PMS and MLD in a patient is possible if either parent carries a heterozygous ARSA mutation. Therefore, MLD should be ruled out in PMS patients with severe neurological phenotype.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ahn H,Seo GH,Keum C,Heo SH,Kim T,Choi J,Yum MS,Lee BHdoi
10.1016/j.braindev.2020.02.003subject
Has Abstractpub_date
2020-05-01 00:00:00pages
414-417issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(20)30067-Xjournal_volume
42pub_type
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
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.05.009
更新日期:2007-03-01 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
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(02)00228-0
更新日期:2003-06-01 00:00:00
abstract::The incidence of West syndrome (WS) was determined by a search of reports of electroencephalograms (EEG) recorded in 1998 and 1999 in all public hospitals in Singapore. Amongst records of patients born in 1998, nine were found with EEG features of hypsarrhythmia or modified hypsarrhythmia with onset of seizures betwee...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00277-7
更新日期:2001-11-01 00:00:00
abstract::As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80070-3
更新日期:1982-01-01 00:00:00
abstract::The aim of this research was to compare the Strengths and Difficulties Questionnaire (SDQ) scores and subscale scores in children with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (AD/HD), and also to clarify the differences between parent- and teacher-assessed SDQ sco...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.09.009
更新日期:2010-09-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.001
更新日期:2010-04-01 00:00:00
abstract::This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.005
更新日期:2012-06-01 00:00:00
abstract:INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.01.010
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS:A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Pati...
journal_title:Brain & development
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.braindev.2019.03.014
更新日期:2019-08-01 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:PURPOSE:We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children w...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.001
更新日期:2017-11-01 00:00:00
abstract::A study of epileptic drop attacks (EDA) by simultaneous video-polygraphic recordings was carried out in one epileptic patient with myoclonic astatic seizures (Doose syndrome). EDA was shown to correspond to a burst of generalized bilaterally synchronous spike and wave complexes (GBSSW) at 3 Hz. Absence seizures were a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90070-o
更新日期:1993-05-01 00:00:00
abstract::The recent advances in neonatal neurology which are discussed include i) the improved organization of perinatal medical services, ii) technological advances including ultrasonography, brainstem auditory evoked responses and intracranial pressure monitoring and, iii) new developments in therapeutics. The development of...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80095-9
更新日期:1984-01-01 00:00:00
abstract:BACKGROUND:Few studies have targeted psychomotor development and associated perinatal risk factors in Japanese very low birth weight (VLBW) infants who are severely small for gestational age (SGA). DESIGN/SUBJECTS:A single-center study was conducted in 104 Japanese VLBW infants who were born preterm, due to maternal, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.07.008
更新日期:2016-02-01 00:00:00
abstract::Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.04.002
更新日期:2015-02-01 00:00:00
abstract::Eighteen children with diplegic form of cerebral palsy (CP) underwent magnetic resonance imaging (MRI) because of the enlarged occipital horns of both lateral ventricles found on previous computerized tomography (CT). In 16 of them squint was present. MRI in flow attenuated inversion recovery (FLAIR) and turbo spin ec...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00178-4
更新日期:2001-03-01 00:00:00
abstract::We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.06.009
更新日期:2013-05-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80029-7
更新日期:1979-01-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80092-x
更新日期:1987-01-01 00:00:00
abstract::The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00069-1
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.07.008
更新日期:2021-01-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00057-0
更新日期:1997-11-01 00:00:00
abstract::Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80006-x
更新日期:1981-01-01 00:00:00
abstract::The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00168-6
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. In a mouse model of AxD, the pathological astrocyte causes a pronounced immune response. The inflammatory environment in the brain might play an important role in the neuronal...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.07.010
更新日期:2020-01-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.12.006
更新日期:2006-08-01 00:00:00
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
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00335-7
更新日期:2001-12-01 00:00:00
abstract::Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00339-4
更新日期:2001-12-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.07.002
更新日期:2006-04-01 00:00:00
abstract::In the acute precollicular-postmammillary decerebrate cat, stimulation of the mesencephalic locomotor region (MLR) induces "controlled locomotion" on a moving treadmill. Stimulation of the dorsal area and of the ventral area of the pons at its midline elicited a long-lasting decrease and an increase in the tone of the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80062-6
更新日期:1986-01-01 00:00:00