• Ataxia Telangiectasia
    • Satoko Kumada
    • Satoko Kumada: Influence Statistics

      Satoko Kumada

      Satoko Kumada

      Show email address

      Tokyo Metropolitan Neurological Hospital, Tokyo, Japan | Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan | Department of Neuropediatrics, ...

      Is this your profile? manage_accounts Claim your profile content_copy Copy URL code Embed Link to your profile

      Satoko Kumada:Expert Impact

      Concepts for whichSatoko Kumadahas direct influence:Ataxia telangiectasia,Involuntary movements,Bilirubin encephalopathy,Cerebral cortex,Basal ganglia,Xeroderma pigmentosum,Spinal muscular atrophy,Chondrodysplasia punctata.

      Satoko Kumada:KOL impact

      Concepts related to the work of other authors for whichfor which Satoko Kumada has influence:Spinal muscular atrophy,Intellectual disability,Epileptic encephalopathies,Infantile spasms,Ohtahara syndrome,Acute encephalopathy,Developmental delay.

      KOL Resume for Satoko Kumada


      Tokyo Metropolitan Neurological Hospital, Tokyo, Japan


      Department of Neuropediatrics, Tokyo, Metropolitan Neurological Hospital, Tokyo, Japan


      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Japan.


      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo 183-0042, Japan


      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.


      Tokyo Metropolitan Neurological Hospital Department of Neuropediatrics Tokyo Japan


      Department of Neuropediatrics Tokyo Metropolitan Neurological Hospital Tokyo Japan.


      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Japan


      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan


      Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan


      Department of pediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan


      Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashi-dai, Fuchu-shi, Tokyo 183-0042, Japan


      From the Departments of Neuropediatrics (S.K.) and Neurology (Y.K.), Tokyo Metropolitan Neurological Hospital; Department of Pediatrics (S.K., A.U., K.K.), Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities; Department of Pediatrics (M.K.), the University of Tokyo; and Department of Clinical Neuropathology (M.H.), Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan.


      Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, 2-9-2, Musashidai, Fuchu-shi, Tokyo 183-0042, Japan


      Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, 2-9-2 Musashidai, Fuchu-shi, Tokyo 183-0042, Japan


      Department of Pediatrics Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities Tokyo, Japan


      Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, 2-6 Musashi-dai, Fuchu-shi, Tokyo 183-8526, Japan


      RIKEN Brain Science Institute, Wako-shi, Japan, Tokyo Metropolitan Medical Center for Severely Handicapped, Tokyo, Japan, Tokyo, Japan, School of Medicine, Fukuoka University, Fukuoka, Japan


      Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience and


      Department of Pediatrics; Musashino Red Cross Hospital; University of Tokyo; Tokyo, Japan


      Department of Pediatrics, Tokyo Medical and Dental University, Tokyo


      Department of Pediatrics, Musashino Red Cross Hospital

      Sign-in to see all concepts, it's free!
      Sample of concepts for which Satoko Kumada is among the top experts in the world.
      Concept World rank
      lafora disease authors #2
      authors abnormal activation #2
      insular cortex mechanism #2
      fixationsensitive myoclonus #2
      myoclonus magnetoencephalographic studies #2
      neurophysiologic studies fixation #2
      cortex sialorrhea #2
      mechanism fixationsensitive myoclonus #2
      enhancer myoclonus #2
      sialorrhea status #2
      visual eyelids fixation #2
      lafora disease myoclonus #3
      lincl possibility #4
      population lafora #4
      epileptogenesis hereditary #4
      neurodegeneration lincl #4
      japan nhlrc1 #4
      japanese families ld #4
      common lafora disease #4
      emp2a gene #4
      oxidative stress ncl #4
      cortex lincl #4
      early adult types #4
      nhlrc1 gene common #4
      autonomic dysfunction dysfunction #4
      nuclei jncl #4
      healthy children amplitude #4
      fixation enhancer #4
      families epm2a #4
      epileptogenesis drpla #4
      passive eye closure #4
      nhlrc1 identified #4
      calretinin lincl #4
      difference interval variation #4
      lincl case #4
      neurodegeneration neuronal ceroidlipofuscinoses #4
      cerebral cortex calretinin #4
      families nhlrc1 mutations #4
      lipofuscinoses neurotoxins #4
      nhlrc1 identified mutations #4
      jncl case #4
      juvenile 2 cases #4
      pme epilepsy female #4
      sound stimulation patients #4
      epm2a nhlrc1 mutation #4
      r—r interval variation #5
      awakening light sleep #5
      light sleep addition #5
      sma excessive perspiration #5
      fast prolonged spindles #5
      Sign-in to see all concepts, it's free!

      Prominent publications by Satoko Kumada

      KOL-Index: 11018

      Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently identified on chromosome 6p22. The LD is relatively common in southern Europe, the Middle East, and Southeast Asia. A few sporadic cases with typical LD phenotype have been ...

      Known for Nhlrc1 Gene | Lafora Disease | Mutations Epm2a | Protein Phosphatase | Mutation Missense
      KOL-Index: 10606

      Spinal muscular atrophy (SMA) is a hereditary motor neuron disease, and three clinical subtypes of autosomal recessive SMA, including Werdnig Hoffmann disease (type 1), have been shown to be induced by deletion within the same genes. In order to clarify the pathogenesis of motor neuron degeneration in SMA, we immunohistochemically examine the expressions of oxidative stress-related materials (oxidative products) and glutamate transporters, which can prevent glutamate neurotoxicity, in ...

      Known for Muscular Atrophy | Oxidative Stress | Sma Type | Motor Neurons | Glutamate Transport
      KOL-Index: 10324

      Marinesco bodies (MBs) are ubiquitinated intranuclear inclusions observed in nigral pigmented neurons. They increase in number during aging, and their formation is considered to represent a cellular reaction to stress, but is not always associated with neuronal degeneration. We conducted immunohistochemical studies on MBs abundant in myotonic dystrophy brains and compared their nature with that of neuronal intranuclear inclusions (NIIs) in polyglutamine diseases. First, we examined the ...

      Known for Marinesco Bodies | Nuclear Inclusions | Promyelocytic Leukemia | Polyglutamine Diseases | Protein Pml
      KOL-Index: 10229

      We examined oxidative stress markers, tau protein and cytokines in the cerebrospinal fluid (CSF) in six patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). In the CSF, 8-hydroxy-2'-deoxyguanosine (8-OHdG) and hexanoyl-lysine adduct levels increased over the cutoff index in four and one out of six MERS patients, respectively. The CSF IL-6 and IL-10 levels were increased in three out of six patients, two of which had extended lesion of the ...

      Known for Oxidative Stress | Reversible Splenial Lesion | Clinically Mild Encephalitis | Mers Patients | Tau Protein
      KOL-Index: 10181

      Early infantile epileptic encephalopathy with suppression-burst (EIEE), also known as Ohtahara syndrome, is one of the most severe and earliest forms of epilepsy1. Using array-based comparative genomic hybridization, we found a de novo 2.0-Mb microdeletion at 9q33.3–q34.11 in a girl with EIEE. Mutation analysis of candidate genes mapped to the deletion revealed that four unrelated individuals with EIEE had heterozygous missense mutations in the gene encoding syntaxin binding protein 1 ...

      Known for Novo Mutations | Stxbp1 Eiee | Proteins Mutation | Early Infantile | Situ Hybridization
      KOL-Index: 9244

      Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a recently clinicoradiologically-established encephalopathy syndrome. In the present study, we examined the levels of cerebrospinal fluid (CSF) tau protein, a marker of axonal damage, in 11 patients with AESD. CSF tau levels were normal on day 1 and increased from day 3 of the disease between the initial and the secondary seizures. Magnetic resonance imaging (MRI) reveals reduced diffusion in the subcortical ...

      Known for Biphasic Seizures | Tau Protein | Axonal Damage | Acute Encephalopathy | Cerebrospinal Fluid
      KOL-Index: 8624

      BACKGROUND: Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal microangiopathy with calcifications and cysts, but evidence suggests that ...

      Known for Snord118 Mutations | Brain Calcifications | Cysts Lcc | Intracranial Calcification | Small Nucleolar
      KOL-Index: 8248

      OBJECTIVE: The cytoplasmic fragile X mental retardation 1 interacting proteins 2 (CYFIP2) is a component of the WASP-family verprolin-homologous protein (WAVE) regulatory complex, which is involved in actin dynamics. An obvious association of CYFIP2 variants with human neurological disorders has never been reported. Here, we identified de novo hotspot CYFIP2 variants in neurodevelopmental disorders and explore the possible involvement of the CYFIP2 mutants in the WAVE signaling ...

      Known for Epileptic Encephalopathy | Cyfip2 Variants | Novo Hotspot | Neurodevelopmental Disorders | Actin Dynamics
      KOL-Index: 8176

      Xeroderma pigmentosum group A (XPA) and Cockayne syndrome (CS) are hereditary DNA repair disorders complicated by progressive neurodegeneration. Here we immunohistochemically examine the in situ expression of materials that are produced by oxidative stress and glutamate transporters (which can contribute to prevention of glutamate neurotoxicity) in the brains of 5 autopsied patients each of XPA, CS, and control groups. All oxidative products, including nitrotyrosine, advanced glycation ...

      Known for Oxidative Stress | Glutamate Transport | Xpa Patients | Globus Pallidus | Cockayne Syndrome
      KOL-Index: 8073

      Abstract We examined the mechanism of cerebellar degeneration in brains obtained at autopsy from six cases of hereditary dentatorubral-pallidoluysian atrophy (DRPLA) and six cases of Machado-Joseph disease (MJD), using terminal deoxynucleotidyltransferase-mediated in situ nick end labeling (TUNEL) and immunohistochemistry for apoptosis-related proteins, neurotrophin receptors and glutamate transporters. In three subjects with DRPLA, who developed dementia and cerebellar ataxia at over 50 ...

      Known for Joseph Disease | Drpla Cases | Cerebellar Cortex | Purkinje Cells | Pallidoluysian Atrophy
      KOL-Index: 7004

      Neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative diseases and autosomal recessive lysosomal storage disorders. We examined the involvement of cell death, oxidative stress, and glutamate excitotoxicity using immunohistochemistry against Bcl-2, Bcl-x, oxidative products to proteins, lipids and DNA, calcium-binding proteins (calbindin-D28K, parvalbumin, calretinin), and glial glutamate transporters (excitatory amino acid transporters 1 and 2), in addition to terminal ...

      Known for Neuronal Ceroid | Oxidative Stress | Calbindind28k Parvalbumin | Glial Glutamate Transporters | Neurodegenerative Mechanisms
      KOL-Index: 6805

      Hirotomo Saitsu, Noboru Mizushima, Naomichi Matsumoto and colleagues report the identification of de novo mutations in WDR45 that cause static encephalopathy of childhood with neurodegeneration in adulthood. WDR45 encodes a homolog of the yeast autophagy protein Atg18.

      Known for Novo Mutations | Static Encephalopathy | Autophagy Gene | Wdr45 Encodes | Intellectual Disability
      KOL-Index: 6612

      Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous entities such as neurodevelopmental disorders (NDDs). Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. They present with mild to severe developmental delay associated with a range of ...

      Known for Box Protein | Missense Variants | Neurodevelopmental Disorders | Exome Sequencing | Proteasomal Degradation
      KOL-Index: 6589

      BACKGROUND: Mutations in GDAP1 are responsible for heterogeneous clinical and electrophysiological phenotypes of Charcot-Marie-Tooth disease (CMT), with autosomal dominant or recessive inheritance pattern. The aim of this study is to identify the clinical and mutational spectrum of CMT patients with GDAP1 variants in Japan.

      MATERIALS AND METHODS: From April 2007 to October 2014, using three state-of-art technologies, we conducted gene panel sequencing in a cohort of 1,030 patients with ...

      Known for Gdap1 Variants | Mutational Spectrum | Japanese Patients | Disease Child | Gene Panel
      KOL-Index: 6139

      Whether the cerebral or subcortical lesions are involved in the pathogenesis in infantile spasms (IS) remains to be determined. To investigate the functional lesions of the subcortical structures in IS, the brainstem expression of neurotransmitters, neuropeptides and calcium-binding proteins in IS autopsy cases of lissencephaly and of perinatal hypoxic ischemic encephalopathy (HIE/IS) was investigated. The IS patients consisted of four subjects each of lissencephaly and HIE. They ...

      Known for Infantile Spasms | Brainstem Lesions | Immunohistochemical Analysis | Lissencephaly Hie | Tyrosine Hydroxylase

      Key People For Ataxia Telangiectasia

      Top KOLs in the world
      Yosef Shiloh
      dna damage ataxia telangiectasia atm gene
      Martin F Lavin
      ataxia telangiectasia dna damage prostate cancer
      Michael B Kastan
      dna damage ataxia telangiectasia cell cycle
      Yael Ziv
      ataxia telangiectasia dna damage atm protein
      Richard A Gatti
      ataxia telangiectasia atm gene cell lines
      Galit Rotman
      atm gene ataxia telangiectasia transgenic mice

      Tokyo Metropolitan Neurological Hospital, Tokyo, Japan | Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan | Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu-shi, Tok

    Download on the App StoreGet it on Google Play

    Copyright © 2023 Key Opinion Leaders, LLC.