Abstract:
:Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex. It is associated with an abnormal accumulation of saturated very long chain fatty acids and can be diagnosed by demonstrating an excess of these substances in plasma or red cells. Our laboratory has identified more than 900 hemizygotes and 1,000 heterozygotes. Approximately 50% of the hemizygotes have a rapidly progressive childhood or adolescent form of the disease. Twenty-five percent of males have a slowly progressive paraparesis in adulthood, but often are not diagnosed correctly. The illness may also present as Addison disease without apparent neurological involvement. Approximately 15% of heterozygotes develop moderately severe spastic paraparesis. It is important to diagnose ALD promptly because of the urgent need for genetic counseling and the availability of promising therapeutic interventions.
journal_name
Dev Neuroscijournal_title
Developmental neuroscienceauthors
Moser HW,Moser AB,Naidu S,Bergin Adoi
10.1159/000112170subject
Has Abstractpub_date
1991-01-01 00:00:00pages
254-61issue
4-5eissn
0378-5866issn
1421-9859journal_volume
13pub_type
杂志文章,评审abstract::The kinetics and sodium-dependence of gamma-aminobutyric acid (GABA), hypotaurine and taurine uptake were analyzed in cerebral slices prepared from mice of different postnatal ages. The maximal velocities of transport (V) and the Km constants for the high-affinity uptake all decreased with age, whereas the development...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112354
更新日期:1983-01-01 00:00:00
abstract::The L-type calcium channel activator +/-Bay K 8644 has recently been shown to provoke self-injurious biting in young mice. Since the serotonergic systems have been implicated in the expression of self-injurious behavior in both humans and animals, the present studies tested whether drugs influencing serotonin systems ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000066747
更新日期:2002-01-01 00:00:00
abstract::Neurite outgrowth is dependent on the presence in neurites of assembled microtubules which consist of polymerized tubulin to which microtubule-associated proteins (MAPs) are bound. This study adds to previous evidence of the similarity between the high molecular weight MAPs, MAP1X, MAP1B and MAP5, and explains the dif...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111318
更新日期:1993-01-01 00:00:00
abstract::The metabolism of [1, 2-13C2] acetate via the tricarboxylic acid (TCA) cycle leads to the formation of a number of key mass isotopomers of glutamate. The distribution of these isotopomers which is a function of pyruvate carboxylase, pyruvate dehydrogenase and pyruvate recycling was used to determine the relative anapl...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111442
更新日期:1996-01-01 00:00:00
abstract::Preadolescent animals display protracted hormonal stress responses mediated by the hypothalamic-pituitary-adrenal (HPA) axis compared to adults. Though the mechanisms that underlie this shift in stress reactivity are unknown, reduced glucocorticoid-dependent negative feedback on the HPA axis has been posited to contri...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000362873
更新日期:2014-01-01 00:00:00
abstract::Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various c...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000112182
更新日期:1991-01-01 00:00:00
abstract::Perinatal hypoxic ischemic (HI) brain injury is a leading cause of long-term neurological handicap in newborn babies. Recently, excessive activity of matrix metalloproteinases (MMPs), and in particular MMP-9, has been implicated in the aetiology of HI injuries to the immature brain. Our previous study suggested that M...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000343257
更新日期:2012-01-01 00:00:00
abstract::Insulin binding was measured on crude mitochondrial or plasma membranes prepared from different rat brain regions during postnatal development. In the cerebral cortex and brainstem, insulin binding decreased 60-70% between birth and the adult period. In the cerebellum, insulin binding doubled in the first 10 postnatal...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111863
更新日期:1990-01-01 00:00:00
abstract::The expression of voltage-gated potassium channels plays an important role in the acquisition of membrane excitability in neurons. We examined the expression pattern of genes in developing cerebellar granule neurons in vivo and in vitro. In situ hybridization of Kv3.1 mRNA demonstrated that the gene was expressed at h...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017370
更新日期:1999-01-01 00:00:00
abstract::The effect of undernutrition on the activity of glutamate decarboxylase (GAD) and choline acetyltransferase (ChAc) (markers for the GABA-ergic and the cholinergic transmitter system, respectively) was studied in various parts of the rat brain at the age of 10, 15 and 21 days, and at day 54 following 33 days of rehabil...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112551
更新日期:1978-01-01 00:00:00
abstract::Glutamine synthesis, the major pathway of ammonia detoxification, and the intracellular concentration of organic osmolytes in primary astrocytes and F98 glioma cells were investigated with multinuclear magnetic resonance spectroscopy. Acute exposure to ammonia (3 h incubation with NH4Cl) raised the concentration of gl...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017339
更新日期:1998-01-01 00:00:00
abstract::Neurotoxicological studies have indicated that L-glutamate exhibits more pronounced effects on the preoptic area (POA) neurons of male rats than on those of females in the neonatal period. However, no information has previously been available as to whether or not such sexual dimorphism also exists for the effects of g...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000048726
更新日期:2001-01-01 00:00:00
abstract::The gene responsible for the audiogenic seizure (AGS) phenotype in Frings mice, which was identified and originally designated Mass1, is now referred to as Mgr1. Although the function of the gene product is not known, the expression pattern suggests a role in the developing CNS. Hearing impairment is often observed in...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000086712
更新日期:2005-01-01 00:00:00
abstract::Birth asphyxia can result in sensory impairment, learning and memory deficits without gross brain injury and severe motor deficits. We developed a model of birth asphyxia resulting in mild neurological injury and cognitive impairment using a long-gestation species with precocial fetal development. Spiny mice (Acomys c...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000251907
更新日期:2009-01-01 00:00:00
abstract::Although multipotent progenitor cells capable of generating neurons, astrocytes and oligodendrocytes are present within the germinal zones of the brain throughout embryonic, postnatal and adult life, the different neural cell types are generated within discrete temporospatial developmental windows. This might suggest ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000017429
更新日期:2000-01-01 00:00:00
abstract::Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by intellectual disability, sensory hypersensitivity, and high incidences of autism spectrum disorders and epilepsy. These phenotypes are suggestive of defects in neural circuit development and imbalances in excitatory glutamatergic and inhibitory...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000329420
更新日期:2011-01-01 00:00:00
abstract::Myelinogenesis in different brain parts of trout was studied comparatively by means of histochemistry and biochemistry. A more detailed approach, including ultrastructural analysis, to characterize this important differentiation process, particularly in the optic tectum, revealed a good correlation between the structu...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112777
更新日期:1981-01-01 00:00:00
abstract::Perinatal asphyxia is a leading cause of brain injury in neonates, occurring in 2-4 per 1,000 live births, and there are limited treatment options. Because of their similarity to humans, nonhuman primates are ideal for performing preclinical tests of safety and efficacy for neurotherapeutic interventions. We previousl...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000327246
更新日期:2011-01-01 00:00:00
abstract::The metabolism of [1-13C]D-glucose by astrocytes, neurons and mixed astroglial/neuronal cultures derived from the striatum of fetal rats was studied using NMR. Metabolic activity was studied in resting and depolarized cells (55 mM K+), with dibutyryl cyclic-AMP added to the medium to promote cell differentiation, and ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111346
更新日期:1993-01-01 00:00:00
abstract::There is an important unmet need to further improve the outcome of neonatal encephalopathy in term infants. Meta-analyses of large controlled trials now suggest that maternal magnesium sulfate (MgSO4) therapy is associated with a reduced risk of cerebral palsy and gross motor dysfunction after premature birth, but tha...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000362206
更新日期:2014-01-01 00:00:00
abstract::The myelin-associated glycoprotein (MAG) in primary cultures of oligodendrocytes is subject to phosphorylation in the absence of neurons. The positive response of this phosphorylation to vanadate suggests that one of the modified sites in MAG is phosphotyrosine. We found that phosphorylation was enhanced by brief trea...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112192
更新日期:1991-01-01 00:00:00
abstract::Radiotherapy is an effective treatment strategy in the treatment of brain tumors, but it is also a major cause of long-term complications, especially in survivors of pediatric brain tumors. Cognitive decline caused by cranial radiotherapy is thought, at least partly, to depend on injury to stem and progenitor cells in...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000353820
更新日期:2013-01-01 00:00:00
abstract::Dissociated brain cell cultures are a useful model for investigating development and differentiation of oligodendrocytes in vitro. The current studies compare the developmental patterns of expression for oligodendrocyte lineage/myelin markers in both primary and secondary oligodendrocyte cultures derived from mouse an...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111276
更新日期:1995-01-01 00:00:00
abstract::Adult GM2 gangliosidosis is a rare autosomal recessive disease with widely varying neurological and psychiatric manifestations. It is caused by marked deficiency, but not total absence, of beta-hexosaminidase (Hex) A, due to a single base change in the alpha-subunit gene of Hex, resulting in a substitution of Ser for ...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112200
更新日期:1991-01-01 00:00:00
abstract::Transient early cerebral laminar organization resulting from normal developmental events has been revealed in human beings through histology and imaging studies. DTI studies have postulated that the fractional anisotropy (FA)-based differentiation of different laminar structures reflects both differing cellular densit...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000229500
更新日期:2009-01-01 00:00:00
abstract::In the presence of nerve growth factor (NGF) PC12 pheochromocytoma cells develop properties of sympathetic neurons and extend long microtubule-containing neurites. PC12 cell microtubule protein was isolated using an assembly and disassembly procedure, either directly from an unlabeled cell extract or by copolymerizati...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112330
更新日期:1983-01-01 00:00:00
abstract::When cells from the cerebellum of late-gestation rats were grown at low density (50-100 cells/mm2) in a three-dimensional culture system, they rapidly expressed morphological and electrophysiological properties of neurons. Growth and differentiation of the population of solitary neurons as a whole was statistically as...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000111645
更新日期:1992-01-01 00:00:00
abstract::We investigated the effects of perinatal hypoxia-ischemia (HI) on brain injury and neurological functional outcome at postnatal day (P)30 through P90. HI was induced by exposing P9 mice to 8% O(2) for 55 min using the Vannucci HI model. Following HI, mice were treated with either vehicle control or Na(+)/H(+) exchange...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000328430
更新日期:2011-01-01 00:00:00
abstract::In order to investigate the possible influence of norepinephrine (NE) on neuronal development, the effects of neonatal NE depletion on postnatally developing cell populations were characterized in (1) the normal mouse cerebellum, and (2) a cerebellar model system with delayed germinal cell development produced by neon...
journal_title:Developmental neuroscience
pub_type: 杂志文章
doi:10.1159/000112695
更新日期:1982-01-01 00:00:00
abstract::The neonatal brain appears to be selectively vulnerable to oxidative stress. Several potential mechanisms associated with altered reactive oxygen species metabolism would explain the increased susceptibility. They include increased accumulation of hydrogen peroxide with subsequent neurotoxicity. This enhanced neurotox...
journal_title:Developmental neuroscience
pub_type: 杂志文章,评审
doi:10.1159/000046143
更新日期:2001-01-01 00:00:00