Masaya Segawa

Summary

Country: Japan

Publications

  1. ncbi request reprint Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5)
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Chang Gung Med J 32:1-11. 2009
  2. doi request reprint Epilepsy in autism: A pathophysiological consideration
    Yoshiko Nomura
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 32:799-804. 2010
  3. doi request reprint Dopa-responsive dystonia
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Handb Clin Neurol 100:539-57. 2011
  4. ncbi request reprint [Neurotransmitter disorders in children--special reference to Segawa disease]
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo
    No To Hattatsu 43:352-8. 2011
  5. ncbi request reprint Early motor disturbances in Rett syndrome and its pathophysiological importance
    Masaya Segawa
    Segawa Neurological Clinic for Children, 2 8 Surugarai Kanda, Chiyoda ku, Tokyo 101 0062, Japan
    Brain Dev 27:S54-S58. 2005
  6. doi request reprint Hereditary progressive dystonia with marked diurnal fluctuation
    Masaya Segawa
    Segawa Neurological Clinic for Children, Chiyoda ku, Tokyo, Japan
    Brain Dev 33:195-201. 2011
  7. ncbi request reprint Neurophysiology of Tourette's syndrome: pathophysiological considerations
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 25:S62-9. 2003
  8. ncbi request reprint Neurology of Tourette's syndrome (TS) TS as a developmental dopamine disorder: a hypothesis
    Yoshiko Nomura
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 25:S37-42. 2003
  9. ncbi request reprint [Segawa disease]
    Masaya Segawa
    Segawa Neurological Clinic for Children, Chiyoda ku, Tokyo, Japan
    Brain Nerve 60:5-11. 2008
  10. ncbi request reprint Abnormalities of voluntary saccades in Gilles de la Tourette's syndrome: pathophysiological consideration
    Yoshiko Nomura
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 25:S48-54. 2003

Collaborators

Detail Information

Publications25

  1. ncbi request reprint Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5)
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Chang Gung Med J 32:1-11. 2009
    ....
  2. doi request reprint Epilepsy in autism: A pathophysiological consideration
    Yoshiko Nomura
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 32:799-804. 2010
    ....
  3. doi request reprint Dopa-responsive dystonia
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Handb Clin Neurol 100:539-57. 2011
    ..In recessive disorders, hypofunction of serotonin and noradrenaline induces hypofunction of the dopamine in the perikaryon and shows cortical dysfunction...
  4. ncbi request reprint [Neurotransmitter disorders in children--special reference to Segawa disease]
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo
    No To Hattatsu 43:352-8. 2011
    ..A decrease of DA in the perikaryon leads to symptoms after 10 years and causes dysfunction of the target structures...
  5. ncbi request reprint Early motor disturbances in Rett syndrome and its pathophysiological importance
    Masaya Segawa
    Segawa Neurological Clinic for Children, 2 8 Surugarai Kanda, Chiyoda ku, Tokyo 101 0062, Japan
    Brain Dev 27:S54-S58. 2005
    ..Thus, dysfunction of the aminergic neurons of the brainstem which regulate postural tone and locomotion is proposed as the primary lesion...
  6. doi request reprint Hereditary progressive dystonia with marked diurnal fluctuation
    Masaya Segawa
    Segawa Neurological Clinic for Children, Chiyoda ku, Tokyo, Japan
    Brain Dev 33:195-201. 2011
    ..The TH deficiency at the terminal does not cause morphological changes or degenerative process. Thus, levodopa shows favorable effects without any relation to the duration of illness...
  7. ncbi request reprint Neurophysiology of Tourette's syndrome: pathophysiological considerations
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 25:S62-9. 2003
    ..The associated DA receptor supersensitivity is assumed to be a consequence of this developmental abnormality and not due to denervation supersensitivity...
  8. ncbi request reprint Neurology of Tourette's syndrome (TS) TS as a developmental dopamine disorder: a hypothesis
    Yoshiko Nomura
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 25:S37-42. 2003
    ..The favourable effects of a small dose of levodopa on these signs suggest the existence of DA receptor supersensitivity, because a small dose of levodopa is considered to alleviate the supersensitized DA receptors...
  9. ncbi request reprint [Segawa disease]
    Masaya Segawa
    Segawa Neurological Clinic for Children, Chiyoda ku, Tokyo, Japan
    Brain Nerve 60:5-11. 2008
    ..Existence of these two phenotypes also provides phenotypical variation of Segawa disease...
  10. ncbi request reprint Abnormalities of voluntary saccades in Gilles de la Tourette's syndrome: pathophysiological consideration
    Yoshiko Nomura
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Dev 25:S48-54. 2003
    ....
  11. doi request reprint Dopa-responsive dystonia is caused by particular impairment of nigrostriatal dopamine neurons different from those involved in Parkinson disease: evidence observed in studies on Segawa disease
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Neuropediatrics 44:61-6. 2013
    ..An autopsy of a 90-year-old woman with Segawa disease confirmed the hypothesis that Segawa disease has a completely different pathophysiology and pathology than Parkinson disease...
  12. ncbi request reprint Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP cyclohydrolase 1 (GCH-1) gene?
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Adv Neurol 94:217-23. 2004
  13. ncbi request reprint [Case of DYT1 dystonia (early-onset torsion dystonia) showing long-term focal dystonia in the arm]
    Masaharu Hayashi
    Segawa Neurological Clinic for Children, Tokyo
    No To Hattatsu 40:483-6. 2008
    ..Most DYT1-D patients are refractory to medication and early surgical intervention is recommended. However, the presence of DYT1-D patients showing a milder disease course should also be considered...
  14. doi request reprint Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III
    Yasuo Terao
    Department of Neurology, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 8655, Japan
    J Neurol Sci 320:102-5. 2012
    ....
  15. ncbi request reprint [Walking abnormalities in children]
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Brain Nerve 62:1211-20. 2010
    ..Early detection of locomotion failure and early adjustment of this condition through environmental factors can prevent the development of higher cortical dysfunction...
  16. ncbi request reprint [Development of intellect, emotion, and intentions, and their neuronal systems]
    Masaya Segawa
    Segawa Neurological Clinic for Children, 2 8 Surugadai Kanda, Chiyoda ku, Tokyo 101 0062, Japan
    Brain Nerve 60:1009-16. 2008
    ..In late childhood, DA neurons along with 5HT neurons activate the anterior cingulate area and establish the neuronal process for learning with motivation...
  17. ncbi request reprint Natural history of Rett syndrome
    Yoshiko Nomura
    Segawa Clinic for Children, Tokyo, Japan
    J Child Neurol 20:764-8. 2005
    ..Particular symptoms surface at different ages throughout the natural course of Rett syndrome, with regressional and static periods...
  18. ncbi request reprint Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains
    Masayuki Itoh
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    J Neuropathol Exp Neurol 66:117-23. 2007
    ..IGFBP3 overexpression due to lack of MeCP2 may lead to delayed brain maturation...
  19. ncbi request reprint A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
    Kazue Kimura
    Segawa Neurological Clinic for Children, 2 8 Surugadai Kanda, Chiyoda ku, Tokyo 101 0062, Japan
    Brain Dev 27:424-30. 2005
    ....
  20. ncbi request reprint Rett syndrome
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo, Japan
    Curr Opin Neurol 18:97-104. 2005
    ..These articles explain how mutation of the gene (MECP2) for methyl-CpG-binding protein 2 causes the particular disorders of Rett syndrome, and also induces other neurodevelopmental disorders, clarifying the situation for future studies...
  21. ncbi request reprint A variant of childhood-onset myasthenia gravis: HLA typing and clinical characteristics in Japan
    Noriaki Shinomiya
    Second Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Meguro, Tokyo, Japan
    Clin Immunol 110:154-8. 2004
    ..These date suggest that LG type of MG may present a particular subset of childhood-onset MG, which is associated with the specific HLA subtypes DRB1*1302/DQA1*0102/DQB1*0604 and DRB1*0901/DQA1*0301/DQB1*0303...
  22. ncbi request reprint Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)
    Masaya Segawa
    Segawa Neurological Clinic for Children, Japan
    Ann Neurol 54:S32-45. 2003
    ..A difference in the ratio of mutant/wild-type GCH-I mRNA that depends on the locus of mutation may explain intrafamilial and interfamilial variation of phenotype...
  23. ncbi request reprint [Rett syndrome: correlation of clinical symptoms and the mutations in the gene of methyl CPG binding protein 2 (MeCP2): introductory remarks]
    Masaya Segawa
    Segawa Neurological Clinic for Children, Tokyo
    No To Hattatsu 34:197-9. 2002
    ..In the normal fetus brain MeCP2 is expressed diffusely, and subsequently disappears early in the cortex and later in the brainstem. Abnormalities in the MeCP2 gene may alter these processes and cause age-dependent symptoms...
  24. ncbi request reprint [Visual child neurology]
    Masaya Segawa
    Rinsho Shinkeigaku 43:739-43. 2003
    ..While, postural dystonia, tics in GTS and symptoms in EAOH reflect the development of the causative neurons and the neuronal systems...
  25. ncbi request reprint Effects of phototherapy in neonates on circadian sleep-wake and saliva cortisol level rhythms
    Mieko Shimada
    Department of Maternal and Child Health, Hamamatsu University School of Medicine, Hamamatsu City, Shizuoka Prefecture, Japan
    J Perinat Neonatal Nurs 17:222-31. 2003
    ..At follow-up, no significant differences in sleep-wake and saliva cortisol rhythms were observed between the 2 groups, indicating that circadian variations were similar to those in adults...