Abstract：
:Sphingolipidoses are a subgroup of lysosomal storage diseases. They are defined as disorders caused by a genetic defect in catabolism of sphingosine-containing lipids. Catabolism of these lipids involves enzymes and activator proteins. After the discovery of lysosomes by de Duve and the demonstration of the first defective lysosomal enzyme by Hers in 1963, the first enzyme deficiency for sphingolipidoses was characterized in 1965 and all the defective enzymes were demonstrated in the last three decades. In 1984, the first activator protein was found and it expanded the concept of sphingolipidoses. In the following years, many researches have been undertaken to understand the molecular basis of these diseases, the mechanism of pathogenesis, the mechanism of lysosomal digestion of glycosphingolipids (GSLs) and the functional domains of lysosomal enzymes. New hypotheses and theories have been put forward for the mechanism of lysosomal digestion and pathogenesis. However, although much has been done, the pathogenesis of sphingolipidoses has not been fully elucidated. Mouse models of these diseases have facilitated the elucidation of pathogenesis and the development of therapeutic strategies for these diseases, which are not treatable at present except for Fabry and type 1 Gaucher disease. The purpose of this review is to collect information on the recent researches related to sphingolipidoses. The review includes the hydrolysis of GSLs in lysosome, mechanism of hydrolysis, pathogenesis and genetics of sphingolipidoses, a brief mouse model and therapeutic strategies of these diseases.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ozkara HAdoi
10.1016/j.braindev.2004.01.005keywords:
subject
Has Abstractpub_date
2004-12-01 00:00:00pages
497-505issue
8eissn
0387-7604issn
1872-7131pii
S0387760404000397journal_volume
26pub_type
杂志文章,评审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：: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：:Moyamoya syndrome is a chronic, progressive occlusion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyam...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.07.010
更新日期：2014-06-01 00:00:00
abstract：:We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.010
更新日期：2013-09-01 00:00:00
abstract：:Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80180-x
更新日期：1990-01-01 00:00:00
abstract：:We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.07.005
更新日期：2012-05-01 00:00:00
abstract：BACKGROUND:Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many physically handicapped patients with epilepsy who are treated at our hosp...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.005
更新日期：2016-08-01 00:00:00
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：UNLABELLED:X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. OBJECTIVE:To describe the clinical course of affected male patients from South Brazil betwee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.02.002
更新日期：2010-03-01 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 aim of this study is to investigate predictive factors of post-traumatic syndrome in children with minor head injury. Prospective neurological, electroencephalographic and psychological investigations were performed in 98 children aged 3-13 years within 24 h after the trauma and 4-6 weeks later. Inclusion criteria...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00110-4
更新日期：2004-03-01 00:00:00
abstract：:154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80119-x
更新日期：1986-01-01 00:00:00
abstract：:A case of a Reye-like syndrome during the course of treatment with VPA was reported. Hyperammonemia and severe liver damage as well as diffuse small droplets in the liver biopsy material were demonstrated. On analysis by gas chromatography/mass spectrometry of the urine immediately after the onset, the metabolites of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80029-1
更新日期：1983-01-01 00:00:00
abstract：:We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.03.018
更新日期：2005-11-01 00:00:00
abstract：:Ninety-nine cases of Rett syndrome (RTT) diagnosed clinically (age range 3 years 6 months to 29 years 9 months) were evaluated for the ability of language. The presence of meaningful words, vocabularies, and ages at the start and disappearance of speech were assessed. Phenotype/genotype correlation was evaluated in 22...
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：OBJECTIVE:This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. METHODS:An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 male...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)90006-4
更新日期：2003-12-01 00:00:00
abstract：:MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.012
更新日期：2007-06-01 00:00:00
abstract：:Arachnoid cysts comprise approximately 1% of all intracranial space-occupying lesions and usually occur sporadically. We report retrocerebellar arachnoid cysts in two male siblings with mental retardation and undescended testis, suggesting the possibility of a genetic basis for at least some cases of retrocerebellar a...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(02)00061-x
更新日期：2002-08-01 00:00:00
abstract：:MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.06.013
更新日期：2018-11-01 00:00:00
abstract：:Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apo...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2019.04.010
更新日期：2019-09-01 00:00:00
abstract：PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.08.007
更新日期：2012-05-01 00:00:00
abstract：AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.03.004
更新日期：2020-06-01 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：:The developmental changes in N-acetyl-L-aspartic acid (NAA) were assessed in human fetal and child brains by means of high resolution proton magnetic resonance spectroscopy (MRS). NAA was detected in the cerebral cortex and white matter of fetuses of 16 weeks' gestation. NAA increased gradually from 24 weeks' gestatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00496-2
更新日期：1997-03-01 00:00:00
abstract：:Ohtahara syndrome (OS) is characterized by frequent tonic spasms, with or without clustering, of early onset within a few months of life, and a suppression-burst (S-B) pattern in electroencephalography (EEG). Tonic spasms occur in not only waking but also sleeping state in most cases. Partial seizures are observed in ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00392-8
更新日期：2002-01-01 00:00:00
abstract：:Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.09.002
更新日期：2017-02-01 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：:We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids sh...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(94)00123-f
更新日期：1995-03-01 00:00:00
abstract：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.03.011
更新日期：2018-08-01 00:00:00
abstract：:We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentr...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00064-8
更新日期：1997-11-01 00:00:00
