White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria.

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 Dev

journal_title

Brain & development

authors

Yamamoto T,Yoshioka S,Tsurusaki Y,Shino S,Shimojima K,Shigematsu Y,Takeuchi Y,Matsumoto N

doi

10.1016/j.braindev.2015.04.012

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

142-4

issue

1

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(15)00094-7

journal_volume

38

pub_type

杂志文章
  • Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.

    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

    authors: Kobayashi Y,Tohyama J,Takahashi Y,Goto T,Haginoya K,Inoue T,Kubota M,Fujita H,Honda R,Ito M,Kishimoto K,Nakamura K,Sakai Y,Takanashi JI,Tanaka M,Tanda K,Tominaga K,Yoshioka S,Kato M,Nakashima M,Saitsu H,Matsumot

    更新日期:2021-01-09 00:00:00

  • Body position-dependent changes in cerebral hemodynamics during apnea in preterm infants.

    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

    authors: Pichler G,Schmölzer G,Müller W,Urlesberger B

    更新日期:2001-10-01 00:00:00

  • Validity and reliability of Ability for Basic Movement Scale for Children (ABMS-C) in disabled pediatric patients.

    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

    authors: Miyamura K,Hashimoto K,Honda M

    更新日期:2011-06-01 00:00:00

  • Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines.

    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

    authors: Harahap IS,Saito T,San LP,Sasaki N,Gunadi,Nurputra DK,Yusoff S,Yamamoto T,Morikawa S,Nishimura N,Lee MJ,Takeshima Y,Matsuo M,Nishio H

    更新日期:2012-03-01 00:00:00

  • Apnea associated with hypoxia in preterm infants: impact on cerebral blood volume.

    abstract::The present study analyzed changes in cerebral blood volume (CBV) during apnea associated with hypoxia compared to apnea without hypoxia. Hypoxia was defined as pulsoxymetric oxygen saturation <80%>10 s. The employed technique was near infrared spectroscopy combined with electrocardiogram, electroocologram, pulsoxymet...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(02)00121-3

    authors: Payer C,Urlesberger B,Pauger M,Müller W

    更新日期:2003-01-01 00:00:00

  • Familial porencephalic white matter disease in two generations.

    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

    authors: Smit LM,Barth PG,Valk J,Njiokiktjien C

    更新日期:1984-01-01 00:00:00

  • Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.

    abstract::A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2012.05.002

    authors: Nonoda Y,Saito Y,Nagai S,Sasaki M,Iwasaki T,Matsumoto N,Ishii M,Saitsu H

    更新日期:2013-03-01 00:00:00

  • Posterior fossa cystic lesions--magnetic resonance imaging manifestations.

    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

    authors: Tan EC,Takagi T,Karasawa K

    更新日期:1995-11-01 00:00:00

  • Aquaporin-4 autoimmunity in a child without optic neuritis and myelitis.

    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

    authors: Numata Y,Uematsu M,Suzuki S,Miyabayashi T,Oyama T,Kubota S,Itoh T,Hino-Fukuyo N,Takahashi T,Kure S

    更新日期:2015-01-01 00:00:00

  • Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes.

    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

    authors: Hoshino A,Saitoh M,Oka A,Okumura A,Kubota M,Saito Y,Takanashi J,Hirose S,Yamagata T,Yamanouchi H,Mizuguchi M

    更新日期:2012-05-01 00:00:00

  • Polysomnographic studies of Lesch-Nyhan syndrome.

    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

    authors: Saito Y,Hanaoka S,Fukumizu M,Morita H,Ogawa T,Takahashi K,Ito M,Hashimoto T

    更新日期:1998-12-01 00:00:00

  • Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

    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

    authors: Castro-Gago M,Dacruz-Alvarez D,Pintos-Martínez E,Beiras-Iglesias A,Arenas J,Martín MÁ,Martínez-Azorín F

    更新日期:2016-01-01 00:00:00

  • Efficacy and tolerability of adjunctive therapy with zonisamide in childhood intractable epilepsy.

    abstract:PURPOSE:This study investigated the efficacy and safety of zonisamide (ZNS) adjunctive therapy in children with intractable epilepsy to existing antiepileptic drugs (AEDs). METHODS:A clinical retrospective study was performed from 2003 to 2005 at two tertiary epilepsy centers. We reviewed the data from 163 children (1...

    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

    authors: Lee YJ,Kang HC,Seo JH,Lee JS,Kim HD

    更新日期:2010-03-01 00:00:00

  • L-arginine is effective in stroke-like episodes of MELAS associated with the G13513A mutation.

    abstract::We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2010.07.013

    authors: Shigemi R,Fukuda M,Suzuki Y,Morimoto T,Ishii E

    更新日期:2011-06-01 00:00:00

  • Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey.

    abstract:OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2016.01.002

    authors: Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni H

    更新日期:2016-08-01 00:00:00

  • Research on childhood epilepsy in the People's Republic of China.

    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:

    authors: Zuo CH

    更新日期:1988-01-01 00:00:00

  • Is oxidative damage in operation in patients with hereditary spastic paraparesis?

    abstract::Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2008.12.014

    authors: Gücüyener K,Pinarli FG,Erbaş D,Hasanoğlu A,Serdaroğlu A,Topaloğlu H

    更新日期:2010-02-01 00:00:00

  • Abnormality of cerebral gangliosides in Fukuyama type congenital muscular dystrophy.

    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

    authors: Izumi T,Hara K,Ogawa T,Osawa M,Saito K,Novo ML,Fukuyama Y,Takashima S

    更新日期:1995-01-01 00:00:00

  • Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy.

    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

    authors: Abe S,Okumura A,Hamano S,Tanaka M,Shiihara T,Aizaki K,Tsuru T,Toribe Y,Arai H,Shimizu T

    更新日期:2011-01-01 00:00:00

  • Functional and morphometrical maturation of the brainstem auditory pathway.

    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

    authors: Inagaki M,Tomita Y,Takashima S,Ohtani K,Andoh G,Takeshita K

    更新日期:1987-01-01 00:00:00

  • Quantitative EEG findings and response to treatment with antiepileptic medications in children with epilepsy.

    abstract:BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2017.07.004

    authors: Ouyang CS,Chiang CT,Yang RC,Wu RC,Wu HC,Lin LC

    更新日期:2018-01-01 00:00:00

  • Risk for developing epilepsy and epileptiform discharges on EEG in patients with febrile seizures.

    abstract:PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2012.07.014

    authors: Wo SB,Lee JH,Lee YJ,Sung TJ,Lee KH,Kim SK

    更新日期:2013-04-01 00:00:00

  • ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

    abstract:BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.07.003

    authors: Kwong AK,Chu VL,Rodenburg RJT,Smeitink J,Fung CW

    更新日期:2019-11-01 00:00:00

  • A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

    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

    authors: Kimura K,Sugawara T,Mazaki-Miyazaki E,Hoshino K,Nomura Y,Tateno A,Hachimori K,Yamakawa K,Segawa M

    更新日期:2005-09-01 00:00:00

  • Intravenous injection of flunitrazepam for status epilepticus in children--two case reports.

    abstract::Two cases of status epilepticus are reported, whose seizures responded well to the injection of flunitrazepam. One patient had generalized tonic clonic seizures and the other had partial seizures. The improvement of their condition was confirmed by both clinical and electroencephalographic examinations. There were no ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(88)80066-4

    authors: Ono J,Mimaki T,Tagawa T,Tanaka J

    更新日期:1988-01-01 00:00:00

  • A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase.

    abstract::A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(88)80045-7

    authors: Okada S,Kato T,Tanaka H,Takada K,Aramitsu Y

    更新日期:1988-01-01 00:00:00

  • Inappropriate intracranial hemodynamics in the natural course of MELAS.

    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

    authors: Nishioka J,Akita Y,Yatsuga S,Katayama K,Matsuishi T,Ishibashi M,Koga Y

    更新日期:2008-02-01 00:00:00

  • Clinical profile of a male with Rett syndrome.

    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

    authors: Budden SS,Dorsey HC,Steiner RD

    更新日期:2005-11-01 00:00:00

  • Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.

    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

    authors: Hori D,Hasegawa Y,Kimura M,Yang Y,Verma IC,Yamaguchi S

    更新日期:2005-01-01 00:00:00

  • The spectrum of arthrogryposis in 33 chinese children.

    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...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(96)00557-8

    authors: Wong V

    更新日期:1997-04-01 00:00:00