Abstract:
:l-2-Hydroxyglutaric aciduria (l-2-HGA) is a rare inborn error of metabolism. Mainly, patients with this disorder exhibit neurological symptoms and characteristic neuroradiological findings, such as subcortical white matter abnormalities, which are believed to be caused by the toxicity of the accumulation of l-2-hydroxyglutaric acid. A genotype-first approach of the whole exome sequence was used to identify compound heterozygous mutations, c.584A>G (p.Y195C) and c.772T>C (p.C258R), in L2HGDH, the gene responsible for this disorder, in an adult patient with intellectual disability and intractable epilepsy. A retrospective assay confirmed the increased concentrations of 2-hydroxyglutaric acid in the urine. These results suggested that neuroradiological findings of subcortical white matter abnormalities are characteristic of l-2-HGA and that clinical exome sequencing has sufficient power to compensate for insufficient clinical evaluations.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Yamamoto T,Yoshioka S,Tsurusaki Y,Shino S,Shimojima K,Shigematsu Y,Takeuchi Y,Matsumoto Ndoi
10.1016/j.braindev.2015.04.012subject
Has Abstractpub_date
2016-01-01 00:00:00pages
142-4issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(15)00094-7journal_volume
38pub_type
杂志文章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::The objective of the present study was to evaluate sleeping position-dependent effects on cerebral hemodynamics during apnea in preterm infants. To this end, polygraphic studies were performed on 15 stable preterm infants lying prone and lying supine. Changes in cerebral blood volume (DeltaCBV) and in cerebral hemoglo...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(01)00245-5
更新日期:2001-10-01 00:00:00
abstract::The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.12.001
更新日期:2011-06-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, SMN1. SMA treatment strategies have focused on production of the SMN protein from the almost identical gene, SMN2. Valproic acid (VPA) is a histone deacetylase inhibitor that c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.04.010
更新日期:2012-03-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00121-3
更新日期:2003-01-01 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: 杂志文章
doi:10.1016/j.braindev.2012.05.002
更新日期:2013-03-01 00:00:00
abstract::Cystic lesions of the posterior fossa remain a controversial subject as to clinical classification and diagnosis, especially for those in combination with other intracranial abnormalities. During the period of November 1985 to June 1991, 16 patients with cystic lesions of the posterior fossa were retrospectively revie...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00067-4
更新日期:1995-11-01 00:00:00
abstract::Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.03.015
更新日期:2015-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2012-05-01 00:00:00
abstract::Three cases of Lesch-Nyhan syndrome (LNS) were examined by polysomnography to assess the brainstem function, and to determine the causes of the neurological manifestations and sudden death in this syndrome. In the two older cases, the amount of slow wave and rapid eye movement (REM) sleep, the REM density and the freq...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(98)00052-7
更新日期:1998-12-01 00:00:00
abstract::Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.05.008
更新日期:2016-01-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/j.braindev.2009.02.003
更新日期:2010-03-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.07.013
更新日期:2011-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.01.002
更新日期:2016-08-01 00:00:00
abstract::In the past decade research on childhood epilepsy in our country has progressed in a step-by-step fashion. At first clinical experiences of the diagnosis and treatment of childhood epilepsy and febrile convulsions as to the results of follow-up studies were published. These have helped to overcome the barriers of trad...
journal_title:Brain & development
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.12.014
更新日期:2010-02-01 00:00:00
abstract::Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)00114-d
更新日期:1995-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.04.002
更新日期:2011-01-01 00:00:00
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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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.004
更新日期:2018-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2013-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.07.003
更新日期:2019-11-01 00:00:00
abstract::Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.11.005
更新日期:2005-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80066-4
更新日期:1988-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80045-7
更新日期:1988-01-01 00:00:00
abstract::The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.06.008
更新日期:2008-02-01 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::Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.04.004
更新日期:2005-01-01 00:00:00
abstract::The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...
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pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00557-8
更新日期:1997-04-01 00:00:00