Research Topics
Genomes and Genes | Masaya SegawaSummaryCountry: Japan Publications
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Publications
Epilepsy in autism: A pathophysiological considerationYoshiko Nomura
Segawa Neurological Clinic for Children, Tokyo, Japan
Brain Dev 32:799-804. 2010....- Hereditary progressive dystonia with marked diurnal fluctuationMasaya 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... 
Early motor disturbances in Rett syndrome and its pathophysiological importanceMasaya 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...- Dopa-responsive dystoniaMasaya 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... - 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.... - [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... - Neurophysiology of Tourette's syndrome: pathophysiological considerationsMasaya 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... - Neurology of Tourette's syndrome (TS) TS as a developmental dopamine disorder: a hypothesisYoshiko 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... - Abnormalities of voluntary saccades in Gilles de la Tourette's syndrome: pathophysiological considerationYoshiko Nomura
Segawa Neurological Clinic for Children, Tokyo, Japan
Brain Dev 25:S48-54. 2003.... - [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... - 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 - [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... - Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase IIIYasuo Terao
Department of Neurology, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo, 113 8655, Japan
J Neurol Sci 320:102-5. 2012.... - [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... - Natural history of Rett syndromeYoshiko 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... - [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... - 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 diseaseMasaya 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... - 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 brainsMasayuki 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... - A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizuresKazue Kimura
Segawa Neurological Clinic for Children, 2 8 Surugadai Kanda, Chiyoda ku, Tokyo 101 0062, Japan
Brain Dev 27:424-30. 2005.... - Rett syndromeMasaya 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... - A variant of childhood-onset myasthenia gravis: HLA typing and clinical characteristics in JapanNoriaki 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... - 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... - [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... - [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... - Effects of phototherapy in neonates on circadian sleep-wake and saliva cortisol level rhythmsMieko 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...