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Volume 34, Issue 3
Displaying 1-16 of 16 articles from this issue
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[in Japanese]2002 Volume 34 Issue 3 Pages 196
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
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Masaya Segawa, Toyojiro Matsuishi2002 Volume 34 Issue 3 Pages 197-199
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSPathophysiology of Rett syndrome is discussed in relation to the MeCP2 gene. The brainstem aminergic neurons are affected in early infancy, resulting in failure in locomotion, head growth and language. The severity of symptoms is related to the specific loci of a mutation on the methylbinding domain which shows correlation with the degree of heterochronation disturbance. The secondary involvement of dopamine neurons together with dysfunction of cholinergic neurons, causes stereotyped movements and regression. 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.View full abstractDownload PDF (416K) -
Yoshiko Nomura2002 Volume 34 Issue 3 Pages 200-206
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSThe pathophysiology of Rett syndrome (RTT) was discussed by reviewing the characteristic clinical features and neurophysiological studies.
The electroencephalography (EEG), sensory evoked potentials (SEP), sleep-wake rhythm (SWR) study and polysomnographical (PSG) study showed age dependent characteristics.
The findings in EEG and SEP studies suggested the specific subcortical and cortical involvements taking place during the development. PSG suggested the early dysfunction of the brainstem and midbrain monoaminergic systems; hypoactive serotonin and noradrenaline systems and dopaminergic system associated with receptor supersensitivity.
The monoaminergic systems are known to influence the maturation of the higher neuronal systems at specific areas and at the critical developmental stages. Particularly the synaptogenesis of the cerebral cortex are modulated by region or layer specifically from early stage of the development.
The age dependent appearance of characteristic clinical features of RTT, and the variation of the clinical severities; e. g. classical, variant, form fruste etc. can be explained by the specific features of these monoaminergic systems. The analysis of the components of rapid eye movement sleep (REM) suggested the onset of RTT lies between 36 gestational weeks to 3-4 months postnatally.
The roles of the causative gene, methyl-CpG-binding protein 2 gene (MECP2) are thought to modulate the transcription of the specific target genes which act these areas at specific developmental stages.View full abstractDownload PDF (1126K) -
Toyojiro Matuishi, Yushiro Yamashita2002 Volume 34 Issue 3 Pages 207-210
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSWe review here the current status of neuroimaging and neurochemical research on Rett syndrome (RTT), with reference to neurophysiological, neuropathological, and immuno-histochemical changes previously described. Abnormalities have been reported in the intermediates of the biogenic amine neurotransmitters/receptor systems, and of β-phenylethylamine (PEA), an endogenous amine synthesized by the decarboxylation of phenylalanine in dopaminergic neurons of the nigrostratal system. We also discuss the roles of other neurotransmitters including β-endrophin, substance P and neurotrophic factors including nerve growth factors. Recently, mutations in the gene encoding methyl-CpG binding protein 2 (MeCP2), mapped to Xq28, have been identified in patients with RTT. Multiple abnormalities in various neurotransmitter/receptor systems may accounts for the pervasive defects in RTT.View full abstractDownload PDF (573K) -
Masayuki Itoh, Sachio Takashima2002 Volume 34 Issue 3 Pages 211-216
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSTo clarify critical lesions and pathomechanism of Rett syndrome (RTT), we studied the followings:(1) neuropathological observation of RTT, (2) Comparison of neurotransmitter expression between RTT and controls, and developmental immunohistology of MeCP2, the product of the causative gene of RTT in control brains using the ABC immunohistochemical technique. In the RTT brainstem, there were lesions in the substantia nigra, periaquaductal gray and locus ceruleus, in which catecholaminergic neurons were markedly reduced.
MeCP2 expression, was detectable in all neurons of fetal brain until 20 gestational weeks (GW). The expression disappeared in the cerebrum after 20 GW and in the brainstem after perinatal or infantile periods, but re-appeared in the brainstem after adolescence. These findings suggest that the period and location of MeCP2 expression may play an important role in the pathogenesis of RTT. The lack of MeCP2 in the specific periods and regions may lead to the dysfunction of catecholaminergic neurons in RTT brains.View full abstractDownload PDF (4727K) -
Ikuko Kondo, Hidehisa Yamagata2002 Volume 34 Issue 3 Pages 219-223
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSRett syndrome (RTT) is an X-linked dominat neurodevelopmental disorder characterized by regression in cognition and adaptability with autistic behavior, stereotypical hand movements, epilepsy and ataxia. Over 120 different mutations in the methyl-CpG binding protein 2 gene (MECP2) have been reported in patients with RTT, but a genotype-phenotype correlation has not been established. We have studied MECP2 mutations in 142 Japanese sporadic patients diagnosed clinically as having RTT. Forty different mutations in MECP2 have been detected in 103 female patients. Common mutations were four missense mutations (T158M, P152R, R133C and R306C) observed in 34 cases and four nonsense mutations (R168X, R255X, R270X and R294X) detected in 38 cases. Among these, R133C, R306C, and R294X were associated with atypical RTT including the preserved speech variant type, T158M and R168X with typical clinical features of RTT, and P152R, R255X, and R270X with severe developmental delay. These results suggest a genotype-phenotype correlation RTT. However, a large scale study of adult RTT patients is required to determine more precisely the influence of MECP2 mutation types on the natural history and clincal phenotypes of RTT.View full abstractDownload PDF (730K) -
Shinichi Kudo2002 Volume 34 Issue 3 Pages 224-229
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSMutations in the MeCP2 gene cause Rett syndrome and are observed in approximately 80% of Rett syndrome patients. To investigate the functional significance of these mutations, we established two functional assays using transient expression systems. Transcriptional repressive activities of MeCP2 mutants were analyzed by the reporter assay in Drosophila cells. The influences of mutations on methyl-CpG-binding activities were indirectly assessed by examining the affinity of fluorescent labelled mutant proteins to mouse heterochromatins, where approximately one half of all methyl-CpG-base pairs are located. These functional assays are useful in evaluating mutations in the methyl-CpG-binding domain of MeCP2 and will provide insight into the relationship between the genotype and the phenotype of Rett syndrome.View full abstractDownload PDF (2992K) -
[in Japanese], [in Japanese]2002 Volume 34 Issue 3 Pages 231-234
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
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I. Assessment of Diagnosing Examination and Collaborative Facilities Assigned for Children with Mental RetardationMakiko Kaga, Toshihiro Horiguchi, Masumi Inagaki2002 Volume 34 Issue 3 Pages 235-242
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSWe assessed medical examinations and therapeutic rearing designed for diagnosing children with mental retardation (MR) taking three cases as an example. One hundred and seven physicians answered the questionnaire. Their tentative diagnoses were tuberous sclerosis, autistic disorder, and mental retardation, respectively. They planned medical examinations of blood cell count, urinalysis, blood biochemistry, developmental questionnaires, CT, MRI, and EEG. They chose speech and occupational therapy, nursery facilities, public health center, social welfare counselors, and parents' associations as their early intervention programs. To enrich social resources for MR children, a network of facilities and training for specialists are necessary.View full abstractDownload PDF (1023K) -
Akira Kusaga2002 Volume 34 Issue 3 Pages 243-248
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSβ-phenylethylamine (PEA), a biogenic trace amine, acts as a neuromodulator in the nigrostriatal dopaminergic pathway and stimulates the release of dopamine. To clarify the mechanism of neurochemical metabolism in attention deficit hyperactivity disorder (ADHD), we measured the urine levels of PEA using gas chromatography-chemical ionization-mass spectrometry. The urinary levels of 3-methoxy-4-hydroxyphenyl glycol (MHPG), homovanillic acid (HVA), and 5-hydroxy-indoleacetic acid (5-HIAA) were determined by high performance liquid chromatography. Urine samples were collected in a 24 hour period.
Findings were compared with those obtained from controls (N=15), children with ADHD (N=15), and children with autistic disorder (AD) (N=5). The mean urinary levels of MHPG, HVA, and 5-HIAA in the children with ADHD were not significantly different from those of the controls or those with AD, whereas PEA levels were significantly lower in children with ADHD (11.23±13.40μg/g creatinine) compared with controls (56.01±52.18μg/g creatinine). PEA and MHPG levels in children with AD (14.75±14.37μg/g creatine, 1.10±0.61μg/mg creatine, respectively) were significantly decreased compared to controls (MHPG, 2.2±0.9μ/mg creatine). The decreased urine PEA in children with ADHD and AD may suggest a common underlying pathophysiology. The decreased urine MHPG in children with AD might indicate the existence of an alteration in central and peripheralnoradrenergic function.View full abstractDownload PDF (704K) -
Hiroyuki Yokoyama, Mieko Hirose, Kazuhiro Haginoya, Mitsutoshi Munakat ...2002 Volume 34 Issue 3 Pages 249-253
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSFive autistic children underwent fluvoxamine administration. Their self-injury and aggressive behaviors did not respond psychotherapy and other medication with haloperidol, carbamazepine. The improvement of the behaviors was excellent in two patients, and partial in one patient. In a patient who received a combination of haloperidol and fluvoxamine, fluvoxamine treatment was discontinued because of severe drowsiness and could not continue. The other patients showed no obvious side effects. These results suggest that fluvoxamine treatment may be indicated for self-injury and aggressive behaviors in autistic children.View full abstractDownload PDF (648K) -
Mayu Ohtsu, Kitami Hayashi, Teruyuki Tanaka, Kaoru Imai, Makiko Osawa, ...2002 Volume 34 Issue 3 Pages 254-261
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSWe report a 12-year-old boy with idiopathic torsion dystonia. Blephalospasms appeared at the age of 10, followed by truncal hypertonia and progressive scoliosis after 1 year. He had bizzare involuntary movement of his limbs upon waking, which was initially misinterpreted as a psychogenic reaction. Routine neurological examinations revealed no abnormality. Treatment with diazepam, bacrophen, 1-dopa, and clonazepam, led to only short time improvement of symptoms. At the age of 14, his symptoms gradually improved in natural course. At present he is 15 years old, and capable of normal daily activities. His clinical course was not typical of idiopathic torsion dystonia and very rare in children.View full abstractDownload PDF (8808K) -
Mana Kurihara, Yoichiro Nakae, Toshitaka Kohagizawa, Yoshikatsu Etoh2002 Volume 34 Issue 3 Pages 263-267
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSWe reported a 13-year-old girl with Pickwickian syndrome and Asperger syndrome. The chief complaint on admission was apnea attacks during sleep. She had severe obesity. Whole night polysomnography showed that the apnea attacks occured during light and REM sleep, and that slow wave sleep and REM sleep volumes were decreased. These findings were the same as those on adult cases. Weight control was very difficult because of Asperger syndrome.View full abstractDownload PDF (643K) -
Masakazu Mimaki, Akira Uno, Michio Fukumizu, Noriko Haruhara2002 Volume 34 Issue 3 Pages 268-273
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSA 12-year-old boy showed abnormalities of higher brain functions following acute encephalopathy, in spite of almost normal intelligence. Neuropsychological tests and ordinary intelligence tests could clearly demonstrated his visual and auditory memory impairment and frontal lobe dysfunction. Brain magnetic resonance imaging showed lesions of the bilateral-temporal lobes, and single photon emission tomography showed reduced cerebral blood flow in the temporal and frontal areas bilaterally. The distribution of the lesions was compatible with his clinical symptoms and with the results of the neuropsychological tests. The combination of neuropsychological and neuroradiological examinations is helpful for evaluating higher brain functions precisely. We should make better use of these examinations in determining the most appropriate treatment for patients, particularly children with higher brain dysfunction.View full abstractDownload PDF (3845K) -
[in Japanese], [in Japanese], [in Japanese]2002 Volume 34 Issue 3 Pages 275-276
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
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[in Japanese]2002 Volume 34 Issue 3 Pages 280-283
Published: May 01, 2002
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSDownload PDF (630K)
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