当前位置： SCI文献检索 > BRAIN & DEVELOPMENT期刊下所有文献 > MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.

MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.

Abstract：

:Mutations in the mitochondrial tRNAMet gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudden visual disturbances and headaches accompanied by recurrent, stroke-like episodes with lactic acidosis (pH 7.279, lactic acid 11.6 mmol/L). The patient frequently developed a delirious state, exhibited regression of intellectual ability. Brain magnetic resonance imaging revealed high-intensity signals on T2-weighted images of the left occipital lobe. Mitochondrial gene analysis revealed a heteroplasmic m.4450G > A mutation in the mitochondrial tRNAMet. The heteroplasmic rate of the m.4450G > A mutation in blood, skin, urinary sediment, hair, saliva, and nail samples were 20, 38, 59, 41, 27, and 35%, respectively. The patient's fibroblast showed an approximately 53% reduction in the oxygen consumption rate, compared to a control, and decreased complex I and IV activities. Stroke-like episodes, lactic acidosis, encephalopathy with brain magnetic resonance imaging findings, and declined mitochondrial function were consistent with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. To our knowledge, the findings associated with this first patient with MELAS syndrome harboring the m.4450G > A mutation in mitochondrial tRNAMet expand the phenotypic spectrum of tRNAMet gene.

journal_name

Brain Dev

journal_title

Brain & development

authors

Kuwajima M,Goto M,Kurane K,Shimbo H,Omika N,Jimbo EF,Muramatsu K,Tajika M,Shimura M,Murayama K,Kurosawa K,Yamagata T,Osaka H

doi

10.1016/j.braindev.2019.01.006

subject

Has Abstract

pub_date

2019-05-01 00:00:00

pages

465-469

issue

5

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(18)30597-7

journal_volume

41

pub_type

杂志文章

相关文献

BRAIN & DEVELOPMENT文献大全
  • The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children.

    abstract：OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2018.09.005

    authors： Magara S,Komatsubara T,Hojo M,Kobayashi Y,Yoshino M,Saitoh A,Tohyama J

    更新日期：2019-02-01 00:00:00

  • Magnetic resonance studies of brain lesions in patients with Kawasaki disease.

    abstract：:We evaluated brain lesions in patients with coronary arterial lesions (CAL) as a complication of Kawasaki disease (KD) by magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). Among 47 patients who underwent coronary angiography for the evaluation of CAL due to KD at Kyushu University Hospital fro...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2005.04.003

    authors： Muneuchi J,Kusuhara K,Kanaya Y,Ohno T,Furuno K,Kira R,Mihara F,Hara T

    更新日期：2006-01-01 00:00:00

  • New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy.

    abstract：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2017.12.003

    authors： Matsumaru N,Hattori R,Ichinomiya T,Tsukamoto K,Kato Z

    更新日期：2018-03-01 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

  • Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.

    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

    authors： Kato K,Mizuno S,Inaba M,Fukumura S,Kurahashi N,Maruyama K,Ieda D,Ohashi K,Hori I,Negishi Y,Hattori A,Saitoh S

    更新日期：2018-09-01 00:00:00

  • Effective prophylactic therapy for cyclic vomiting syndrome in children using valproate.

    abstract：:This trial sought to evaluate our experience using the antimigraine prophylactic drug, use of valproate for the prophylactic management of cyclic vomiting syndrome (CVS) in children. Thirteen children diagnosed with severe CVS were enrolled. Prophylactic therapy consisted of valproate administered at a dose of 10-40 m...

    journal_title：Brain & development

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.braindev.2008.07.005

    authors： Hikita T,Kodama H,Nakamoto N,Kaga F,Amakata K,Ogita K,Kaneko S,Fujii Y,Yanagawa Y

    更新日期：2009-06-01 00:00:00

  • Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

    abstract：:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2006.01.009

    authors： Abdel-Salam GM,Shehab M,Zaki MS

    更新日期：2006-09-01 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

  • 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

  • A study on epileptic negative myoclonus in atypical benign partial epilepsy of childhood.

    abstract：OBJECTIVE:To investigate the clinical and neurophysiological characteristics, particularly therapeutic considerations, of epileptic negative myoclonus (ENM) in atypical benign partial epilepsy (ABPE) of childhood. METHODS:From 1998 to 2006, 14/242 patients with benign children epilepsy with centrotemporal spikes (BECT...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2008.04.004

    authors： Yang Z,Liu X,Qin J,Zhang Y,Bao X,Chang X,Wang S,Wu Y,Xiong H

    更新日期：2009-04-01 00:00:00

  • Genetically engineered human neural stem cells for brain repair in neurological diseases.

    abstract：:Neural stem cells (NSCs)of the central nervous system (CNS) have recently received a great deal of attention and interest for their therapeutic potential for neurological disorders. NSCs are defined as CNS progenitor cells that have the capacity for self-renewal and multipotent potential to become neurons or glial cel...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/j.braindev.2006.07.012

    authors： Kim SU

    更新日期：2007-05-01 00:00:00

  • Early neurological phenotype in 4 children with biallelic PRODH mutations.

    abstract：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2007.01.008

    authors： Afenjar A,Moutard ML,Doummar D,Guët A,Rabier D,Vermersch AI,Mignot C,Burglen L,Heron D,Thioulouse E,de Villemeur TB,Campion D,Rodriguez D

    更新日期：2007-10-01 00:00:00

  • MR imaging, diffusion-weighted imaging and MR spectroscopy findings in acute rapidly progressive subacute sclerosing panencephalitis.

    abstract：:We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2006.09.013

    authors： Oguz KK,Celebi A,Anlar B

    更新日期：2007-06-01 00:00:00

  • Averaged EEG spike dipole analysis may predict atypical outcome in Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS).

    abstract：PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2016.06.001

    authors： Kim H,Yoo IH,Lim BC,Hwang H,Chae JH,Choi J,Kim KJ

    更新日期：2016-11-01 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

  • Tuberous sclerosis: the incidence of sporadic cases versus familial cases.

    abstract：:In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/s0387-7604(80)80031-3

    authors： Fleury P,de Groot WP,Delleman JW,Verbeeten B Jr,Frankenmolen-Witkiezwicz IM

    更新日期：1980-01-01 00:00:00

  • Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.

    abstract：BACKGROUND:Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estim...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2020.05.004

    authors： Okamoto K,Motoki T,Saito I,Urate R,Aibara K,Jogamoto T,Fukuda M,Wakamoto H,Maniwa S,Kondo Y,Toda Y,Goji A,Mori T,Soga T,Konishi Y,Nagai S,Takami Y,Tokorodani C,Nishiuchi R,Usui D,Ando R,Tada S,Yamanishi Y,Na

    更新日期：2020-09-01 00:00:00

  • The role of hypoxia-inducible transcription factors in the hypoxic neonatal brain.

    abstract：:Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/j.braindev.2009.03.007

    authors： Trollmann R,Gassmann M

    更新日期：2009-08-01 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

  • Low-dose phenobarbital for epilepsy with myoclonic absences: A case report.

    abstract：BACKGROUND:Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phen...

    journal_title：Brain & development

    pub_type：

    doi：10.1016/j.braindev.2020.12.018

    authors： Ito S,Nagumo K,Nishikawa A,Oguni H,Nagata S

    更新日期：2021-01-15 00:00:00

  • Nerve growth factor and the neurotrophic factor hypothesis.

    abstract：:The discovery of nerve growth factor (NGF) over 40 years ago led to the formulation of the "Neurotrophic Factor Hypothesis". This hypothesis states that developing neurons compete with each other for a limited supply of a neurotrophic factor (NTF) provided by the target tissue. Successful competitors survive; unsucces...

    journal_title：Brain & development

    pub_type： 杂志文章,评审

    doi：10.1016/0387-7604(96)00051-4

    authors： Yuen EC,Howe CL,Li Y,Holtzman DM,Mobley WC

    更新日期：1996-09-01 00:00:00

  • Experimentally induced cranial meningocele and cerebral microgyria.

    abstract：:Teratological study on microgyra is rare, and its morphogenesis is still on dispute. Microgyra associated with cranial meningocele and progressive hydrocephalus were induced in rat siblings by administration of 10 mg/kg.bw of n-methyl n-nitrosourea (MNU) to rat dams on day 9 of gestation. Microgyra were closely simila...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：

    authors： Sato H,Sato N,Tamaki N,Matsumoto S

    更新日期：1982-01-01 00:00:00

  • Treatment and outcome in patients with febrile convulsion associated with epileptiform discharges on electroencephalography.

    abstract：:The aim of this study is to determine the efficacy of prophylactic treatment for patients with febrile convulsions (FCs) in whom electroencephalograms (EEGs) revealed epileptiform discharges. We retrospectively investigated 43 patients who met the following criteria: (a) at least one FC during the study period; (b) ep...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/S0387-7604(03)00161-X

    authors： Okumura A,Ishiguro Y,Sofue A,Suzuki Y,Maruyama K,Kubota T,Negoro T,Watanabe K

    更新日期：2004-06-01 00:00:00

  • tuberous sclerosis: hydroxyproline content in urine and tissues.

    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

    authors： Tanaka H,Arima M

    更新日期：1981-01-01 00:00:00

  • Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions.

    abstract：BACKGROUND:Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even withi...

    journal_title：Brain & development

    pub_type：

    doi：10.1016/j.braindev.2020.09.014

    authors： Tang LO,Hou BH,Zhang XN,Xi ZY,Li CX,Xu L

    更新日期：2021-02-01 00:00:00

  • Developmental changes in autonomic responses are associated with future reward/punishment expectations: A study of sympathetic skin responses in the Markov decision task.

    abstract：OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2017.03.004

    authors： Hosaka H,Aoyagi K,Kaga Y,Kanemura H,Sugita K,Aihara M

    更新日期：2017-08-01 00:00:00

  • ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

    abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2016.01.003

    authors： Nozaki F,Kusunoki T,Okamoto N,Yamamoto Y,Miya F,Tsunoda T,Kosaki K,Kumada T,Shibata M,Fujii T

    更新日期：2016-08-01 00:00:00

  • Bilateral pallidal stimulation in children and adolescents with primary generalized dystonia--report of six patients and literature-based analysis of predictive outcomes variables.

    abstract：INTRODUCTION:Primary generalized dystonia is a rare movement disorder. Medical treatment rarely relieves symptoms. The aim of this study was to investigate the efficacy and safety of bilateral pallidal stimulation in 6 children and adolescents with primary generalized dystonia. In addition, we strived to find predictor...

    journal_title：Brain & development

    pub_type： 临床试验,杂志文章

    doi：10.1016/j.braindev.2009.03.010

    authors： Borggraefe I,Mehrkens JH,Telegravciska M,Berweck S,Bötzel K,Heinen F

    更新日期：2010-03-01 00:00:00

  • Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course.

    abstract：:Anti-muscle-specific tyrosine kinase antibody (MuSK-Ab) is the second most frequent autoantibody identified in adult patients with myasthenia gravis (MG). Adult patients with MuSK-Ab demonstrate characteristic clinical features but very little information is available for childhood-onset patients with MuSK-positive MG...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2011.12.014

    authors： Takahashi Y,Sugiyama M,Ueda Y,Itoh T,Yagyu K,Shiraishi H,Ukeba-Terashita Y,Nakanishi M,Nagashima T,Imai T,Motomura M,Saitoh S

    更新日期：2012-10-01 00:00:00

  • Magnetic resonance imaging in neonates with total asphyxia.

    abstract：:Magnetic resonance (MR) findings in cases of total asphyxia, whose lesions are mainly in the brainstem and deep nuclei, have not been clarified. In this study, we investigated MR images in neonates with total asphyxia. MR images of six infants (three males and three females; gestational age, 35-39 weeks; birth weights...

    journal_title：Brain & development

    pub_type： 杂志文章

    doi：10.1016/j.braindev.2012.04.002

    authors： Sugiura H,Kouwaki M,Kato T,Ogata T,Sakamoto R,Ieshima A,Yokochi K

    更新日期：2013-01-01 00:00:00