Abstract：
:Both xeroderma pigmentosum group A (XPA) and Cockayne syndrome (CS) are rare autosomal disorders, have a genetic defect in the step of nucleotide repair, and involve various neurological abnormalities caused by progressive neurodegeneration. We performed comprehensive neuropathological analysis of five cases of XPA and four cases of CS. The XPA cases showed widespread neuronal loss throughout the central nervous system, in sharp contrast to the comparative preservation of neurons in the CS cases, who rather exhibited patchy demyelination in the cerebral and cerebellar white matter, and multifocal calcium deposition in the basal ganglia and cerebral white matter, respectively. Exceptionally in the cerebellar cortex, neuronal loss was more severe in CS than in XPA. Grumose or foamy spheroid bodies occurred in the globus pallidus and substantia nigra, and axonal torpedoes were increased in the cerebellar cortex in both disorders. Neither silver impregnation nor immunohistochemistry for ubiquitin or tau succeeded in visualizing neurofibrillary tangles, senile plaques or augmented ubiquitination in either disorder, and these findings did not support the involvement of facilitated aging in the neurodegeneration in XPA or CS.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Itoh M,Hayashi M,Shioda K,Minagawa M,Isa F,Tamagawa K,Morimatsu Y,Oda Mdoi
10.1016/s0387-7604(99)00033-9keywords:
subject
Has Abstractpub_date
1999-07-01 00:00:00pages
326-33issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(99)00033-9journal_volume
21pub_type
临床试验,杂志文章abstract：:A research committee supported by the Japanese government conducted a nationwide survey on the epidemiology of acute encephalopathy in Japan using a questionnaire. A total of 983 cases reportedly had acute encephalopathy during the past 3 years, 2007-2010. Among the pathogens of the preceding infection, influenza viru...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.07.012
更新日期：2012-05-01 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
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90076-0
更新日期：1994-05-01 00:00:00
abstract：:A 2-month-old Japanese girl exhibited tonic seizure, agenesis of the corpus callosum, lacunar chorioretinopathy, vertebral anomalies, electroencephalographic abnormalities and a malignant tumor. Autopsy revealed a hepatoblastoma and severe brain malformations consisting of callosal agenesis, arhinencephaly, marked pol...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80119-4
更新日期：1985-01-01 00:00:00
abstract：:A 2-year-old boy with herpes simplex encephalitis developed diffuse brain lesions involving the white matter of both cerebral hemispheres. These lesions in the white matter were clearly observed on magnetic resonance imaging (MRI) with the T2-weighted sequence, and were found to have spontaneously disappeared on subse...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00141-7
更新日期：1996-03-01 00:00:00
abstract：:A 6-month-old girl developed West syndrome and it remitted in association with valproate-induced hepatic dysfunction. Plasma -alanine elevated after valproate hepatotoxicity, which seemed to be a possible cause of remission. The patient has been seizure-free with normal electroencephalogram for 12 months without any a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00037-2
更新日期：2002-06-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.07.001
更新日期：2012-04-01 00:00:00
abstract：:We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.05.004
更新日期：2010-06-01 00:00:00
abstract：:We reported a 2-year-old boy with Lennox-Gastaut syndrome, of which the cause could be an adverse effect of further attenuated live (FL) measles vaccine. The pre- and peri-natal histories of the patient were uneventful, except that he was one of monozygotic twins. He had developed normally until 24 months of life, whe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00076-5
更新日期：1999-12-01 00:00:00
abstract：:The sleep patterns of children often cause anxiety to their parents. Some disturbances are unusual, and therefore may cause diagnostic difficulties. Sleep walking and night terrors can be confused with epileptic seizures. The sudden sleep of narcolepsy can lead to false accusations, when in fact the episodes are beyon...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80262-2
更新日期：1992-05-01 00:00:00
abstract：:We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(95)00021-3
更新日期：1995-05-01 00:00:00
abstract：PURPOSE:The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS:A chemiluminescence immunoassay analyzer was used to detect the plasma concentration...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.09.004
更新日期：2018-02-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.04.002
更新日期：2011-01-01 00:00:00
abstract：:Infantile myositis, observed in the neonatal period, is rare and may be confused with congenital muscular dystrophy. The patient presented here showed evidence of a myopathy with in utero onset with intrauterine growth retardation and decreased fetal movements. A muscle biopsy demonstrated characteristic perifascicula...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(96)00049-6
更新日期：1996-09-01 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：: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：OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.09.005
更新日期：2019-02-01 00:00:00
abstract：:A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80154-9
更新日期：1992-09-01 00:00:00
abstract：BACKGROUND:Amplitude-integrated electroencephalogram (aEEG) at <6 h is the best single outcome predictor in term infants with perinatal asphyxia at normothermia. Hypothermia treatment has changed the cutoff values for outcome prediction by using time at onset of normal trace and SWC. Cerebral hemodynamics and oxygenati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.06.005
更新日期：2012-04-01 00:00:00
abstract：:The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It ha...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.003
更新日期：2018-01-01 00:00:00
abstract：:Magnetic resonance (MR) findings in cases of total asphyxia, whose lesions are mainly in the brainstem and deep nuclei, have not been clarified. In this study, we investigated MR images in neonates with total asphyxia. MR images of six infants (three males and three females; gestational age, 35-39 weeks; birth weights...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.04.002
更新日期：2013-01-01 00:00:00
abstract：:The future of human societies depends on children being able to achieve their optimal physical and psychological development. Developmental delay is failure to acquire age-appropriate functionality. It may involve one or more streams of development. Responsive parenting has potential to promote better development. Pri...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2009.06.004
更新日期：2010-02-01 00:00:00
abstract：:The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80067-2
更新日期：1990-01-01 00:00:00
abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.09.014
更新日期：2012-08-01 00:00:00
abstract：:This paper reports 504 cases admitted with acute polyradiculoneuritis (AP) to Beijing Children's Hospital from 1975 through 1984. 343 of the 504 cases (68.1%) with AP had respiratory paralysis and in 198/504 (39.3%), tracheotomy was performed. In this study, none of the patients received steroids. We attempted to asse...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.12.006
更新日期：2021-01-09 00:00:00
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
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.003
更新日期：2007-11-01 00:00:00
abstract：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80025-8
更新日期：1991-05-01 00:00:00
abstract：BACKGROUND:The pathogenesis of acute encephalopathy (AE) remains unclear, and a biomarker has not been identified. METHODS:Levels of 49 cytokines and chemokines, including osteopontin (OPN), were measured in serum and cerebrospinal fluid (CSF) of children with AE (n = 17) or febrile convulsion (FC; n = 8; control grou...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.11.002
更新日期：2020-02-01 00:00:00
abstract：:The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2003.11.002
更新日期：2004-09-01 00:00:00
abstract：:Septo-optic-pituitary dysplasia is a syndrome characterized by abnormalities of midline brain structures, optic nerve hypoplasia, and congenital hypothalamic-pituitary insufficiency. Four infants, diagnosed as having clinical variations of this disorder, are described. The first had agenesis of the septum pellucidum a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80075-4
更新日期：1986-01-01 00:00:00
