Abstract:
:Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-mortem brain of schizophrenic patients. Multicolor FISH on two post-mortem brain samples of normal individuals and six schizophrenic individuals (area 10 of cortex) was applied. A set of DNA probes for FISH included: (i) centromeric alphoid DNA probes for chromosomes 7, 8, 13 and 21, 18, X and Y; (ii) classical satellite DNA probes for chromosomes 1 and 16; and (iii) region-specific DNA probes for chromosomes 13, 21 and 22. A statistically significant level of aneuploidy (up to 0.5-4% of neurons) involving chromosomes X and 18 was detected in two post-mortem brains of patients with schizophrenia. These results indicate that low-level chromosomal aneuploidy could be involved in the pathogenesis of schizophrenia. FISH could be applied to extended studies of chromosomal aneuploidy, abnormal patterns of chromosomal organization and functional gene expression in situ in the neurons of the brain in different psychiatric and neurodevelopmental diseases. Schizophrenia and Rett syndrome might be considered as psychiatric diseases of special interest for molecular-cytogenetic analysis as both of them could be associated with mutations in genes involving regulation of neurodevelopmental processes in the brain.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Yurov YB,Vostrikov VM,Vorsanova SG,Monakhov VV,Iourov IYdoi
10.1016/s0387-7604(01)00363-1keywords:
subject
Has Abstractpub_date
2001-12-01 00:00:00pages
S186-90eissn
0387-7604issn
1872-7131pii
S0387760401003631journal_volume
23 Suppl 1pub_type
杂志文章abstract::It is sometimes difficult to discriminate high functioning pervasive developmental disorders (HFPDD) from attention deficit/hyperactivity disorders (AD/HD) in young children because of the behavioral similarities between the two. For adequate diagnosis, understanding fundamental differences in their social cognitive a...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/S0387-7604(03)00170-0
更新日期:2004-08-01 00:00:00
abstract:AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.10.002
更新日期:2016-04-01 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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00367-9
更新日期:2001-12-01 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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.11.013
更新日期:2014-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.12.003
更新日期:2007-08-01 00:00:00
abstract::Ten girls affected by the Rett syndrome (RS) were treated with bromocriptine in a double blind trial. Two girls showed considerable improvements in gross and fine motor development, in cognitive and social activities, and in their autonomy after four months of treatment. Minimal improvements were seen in one girl, but...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(12)80198-7
更新日期:1990-01-01 00:00:00
abstract::In this study a comparison of the myelination rate in humans in normal and pathologic conditions was made. The progress of myelination was examined on slides stained by the Klüver-Barrera method and evaluated as to four degrees. The prenatal myelination in the brain stem in a group of newborns who died of pregnancy pa...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80328-7
更新日期:1990-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.11.003
更新日期:2011-09-01 00:00:00
abstract::We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80010-8
更新日期:1984-01-01 00:00:00
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journal_title:Brain & development
pub_type:
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更新日期:2021-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.08.002
更新日期:2014-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80095-0
更新日期:1988-01-01 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
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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::Two brothers, aged 6 and 4 years, with an unbalanced chromosome translocation (partial trisomy 1), and their mother, a balanced carrier of the translocation, t(1;3)(q42.3;p26.3), were described. Both patients show minor anomalies; a large head with a prominent forehead, low-set and soaring ears, a high-arched palate, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90048-d
更新日期:1993-03-01 00:00:00
abstract::To elucidate the nature of an overabundance of collagen seen on microscopic examination in tuberous sclerous (TS), the hydroxyproline content in tissues and urine was determined. TS tissues of 5 patients were obtained on necropsy or plastic surgery. Urine was collected from 10 patients with TS and 19 controls. Tumors ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80009-5
更新日期:1981-01-01 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
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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
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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:BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.04.008
更新日期:2018-09-01 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: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::Alternating hemiplegia in childhood (AHC) has clinically characteristic features which are easily defined and recognizable. Laboratory investigations were basically normal although they were extensively examined during and between attacks. There is still much debate about its etiology, particularly its relation to mig...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(12)80144-6
更新日期:1992-09-01 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 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::We describe a 14-month-old girl who presented with arterial ischemic stroke due to moyamoya disease, unilateral renal agenesis and external iliac artery stenosis. The association of moyamoya disease with renal agenesis and external iliac artery stenosis has not been described before. This report expands the spectrum o...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.09.011
更新日期:2011-08-01 00:00:00
abstract:OBJECTIVE:We aimed to examine (1) the prevalence and characteristics of ADHD in preschool children, and (2) differential diagnoses among children who display symptoms of inattention and hyperactivity-impulsivity in early childhood. METHODS:The participants were children living in Kanie-cho, in Japan's Aichi Prefecture...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.11.004
更新日期:2014-10-01 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