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Volume 30, Issue 2
Displaying 1-15 of 15 articles from this issue
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[in Japanese]1998 Volume 30 Issue 2 Pages 92
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSDownload PDF (108K) -
Toshiharu Nagatsu, Hiroshi Ichinose1998 Volume 30 Issue 2 Pages 93-100
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSThe causative genes of hereditary dystonia (hereditary progressive dystonia, HPD; dopa- responsive dystonia, DRD) were discovered in 1994-1995. HPD/DRD is causesd by the deficiency of dopamine to less than 20% of the normal level in the nigro-striatum of the brain owing to the mutations of the dopamine synthesizing enzymes. Autosomal dominant dystonia (Segawa's disease) was found to be caused by mutations of GTP cyclohydrolase I which synthesizes tetrahydrobiopterin, the cofactor of tyrosine hydroxylase, by Ichinose et al. (Nature Genetics, 1994) in Japan. Autosomal recessive dystonia was reported to be caused by mutations of tyrosine hydroxylase by Ludecke et al. (Human Genetics, 1995) in Germany. Hereditary dystonia, especially autosomal dominant Segawa's disease can be completely controlled by L-dopa administration. Measurement of the activity of GTP cyclohydrolase I in mononuclear blood cells is useful for the diagnosis of Segawa's disease.View full abstractDownload PDF (870K) -
Kazumasa Hoshino1998 Volume 30 Issue 2 Pages 101-108
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSInformed consent is essential for bioethical considerations when physicians treat severely neurologically disturbed children. Because these patients are immature for their decision- making, proxy consent must be given to their physicians by their guardian to accept within agreeable limits of treatments and care for them. Prior to obtaining the consent, given by their guardians, physicans are obliged to provide their guardians with necessary informations regarding patients' physical conditions and details of procedures for proposed treatments, as well as possible risks involved in these treatments and care to be provided. Clinical applications of bioethical considerations are given to the patients with following diseases: spina bifida cystica and other neural tube defects, congential metabolic disorders such as cretinism and phenylketonuria, malignant tumors such as neuroblastoma and retinoblastoma, and intractable epilepsy. Bioethical considerations are also given to prenatal diagnosis for early discovery, diagnosis and possible treatments of severely neurologically disturbed fetuses.View full abstractDownload PDF (1101K) -
Kousaku Ohno1998 Volume 30 Issue 2 Pages 109-114
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSIdentification of NF 1, TSC2 and TSC 1 genes has enabled us to focus on their function and regulation. Evidence suggests that these genes are tumor suppressor genes. Malignant tissues in NF 1 and hamartomatous tissues in TSC show “loss of heterozygosity” in NF 1 and TSC 1, 2 genes, respectively. In addition, in the Eker rat with hereditary renal carcinoma, a mutation in the TSC2 gene has been identified. In this review I mentioned briefly several issues to be clarified in the near future.View full abstractDownload PDF (863K) -
Gen Sobue1998 Volume 30 Issue 2 Pages 115-120
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSRecent advances on pathogenetic mechanism and therapeutic approach for Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) were briefly reviewed. As for GBS, an axonal form has been recognized as a clinicopathological variant, in which Campylobacter jejuni infection and elevated anti-GM1 antibody titers are frequently observed. Other anti-glycolipid antibodies to GQ1b, GD1b and GM2 would also be significant as a determinant factor for a clinical phenotype. Beneficial effects of IVIg therapy and plasmapheresis have been established. Although CIDP has also been considered to be demyelinating neuropathy, axonal pathology is frequently noted, and in such cases, a substantial motor neuron loss is present. Clinical recovery in the cases with high anti-MAG and anti-SGPG titers is not necessarily favorable. Corticosteroid therapy, plasmapheresis and IVIg have been all established as therapies beneficial for CIDP.View full abstractDownload PDF (909K) -
Masafumi Matsuo, Yoshiyuki Suzuki1998 Volume 30 Issue 2 Pages 121-122
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSGene diagnosis is getting popular in the field of child neurology, because it can not only establish the diagnosis but also analyze the molecular pathogenesis of neurological diseases. Furthermore, a novel therapy may possibly be created on the basis of understanding of molecular pathophysiology of diseases.
Therefore, it is pointed out that we, pediatric neurologists, should understand the pathological significance of gene diagnosis as well as its techniques.View full abstractDownload PDF (267K) -
Eiji Nanba1998 Volume 30 Issue 2 Pages 123-127
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSRecently, the human genome project has progressed and the responsible genes for many diseases have been discovered. Molecular diagnosis based on gene analysis techniques has developed.
In this paper, the methods in molecular diagnosis were explained, taking as examples of several pediatric neurological diseases such as GM1-gangliosidosis, fragile X syndrome and congenital myotonic dystrophy. Next, we stressed the importance of the study on the gene function in related to the gene mutation. Finally the strategy to establish the molecular diagnosis of polygenic diseases, such as mental retardation and autism, was considered.View full abstractDownload PDF (633K) -
Nobuyuki Shimozawa1998 Volume 30 Issue 2 Pages 128-133
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSPeroxisome biogenesis disorders (PBD) include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). They are classified into ten complementation groups. Five pathogenic genes have been identified using different model systems of peroxisome deficient mutants. PAF-1 and 2 were identified from CHO mutants and were responsible genes for PBD group F and C. Human PEX 5, 12 and 1, responsible genes for group 2, 3 and 1, respectively, were cloned by homology search between yeast PEX genes and human genes on the cDNA data base.
Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, shows phenotypic heterogeneity. Its responsible gene was cloned by positional cloning. It encodes a 75 kDa peroxisomal membrane protein (ALDP) that is a member of the ATP-binding cassette transporter family. There are about 120 different mutations including missense, nonsense and splice mutations, as well as insertions and deletions of afew base pairs. There is no correlation between the clinical phenotype and the ALDP gene mutation.
Recently, animal models have been produced by targeted mutation of the PBD and ALD genes. The mouse model should facilitate researches on PBD and ALD, especially those on regulatory factors of their phenotypic heterogeneity and on new therapeutic approaches.View full abstractDownload PDF (810K) -
Yu-ichi Goto1998 Volume 30 Issue 2 Pages 134-140
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSMitochondrial disorders are caused by either nuclear or mitochondrial DNA abnormalities. The latter but not the former can be examined as a means of diagnosis at present. The peculiarities and problems of the mtDNA test depend strongly on the characteristics of mtDNA itself, such as the multiplicity in number, vulnerability to mutation, and maternal transmission. The mtDNA abnormalities observed in patients with mitochondrial disorders indicate heteroplasmy, tissue/cell specificity, and threshould effects. It should be stressed that the presence of mutant mtDNA in an individual does not mean that he or she is ill. The problems of the mtDNA test could be solved if the genotype-phenotype relationship is farther elucidated in the future study.View full abstractDownload PDF (3198K) -
Yasuhiro Takeshima1998 Volume 30 Issue 2 Pages 141-147
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSDuchenne/Becker muscular dystrophies (DMD/BMD) are the most common inherited muscular disease and caused by mutations in the dystrophin gene. A half to two-thirds of DMD and BMD patients carry deletions (usually of several kilobases of genomic DNA). The clinical progression in DMD and BMD patients with deletions can be predicted in 92% of cases based on whether the deletion maintains or disrupts the translational reading frame (frame-shift hypothesis). However, some exceptional cases have been reported in which some posttranscriptional modifications were sugggested, such as alternative splicing and reinitiation of translation. Splicing mutation is one kind of mutations of dystrophin gene, and usually induced by a small mutation of exon-intron boundary sequence. However, intraexonal small mutation also induces exon skipping, due to disruption of an exon recognition sequence, which is an intraexonal sequence and necessary for splicing of the upstream intron.
Carrier diagnosis is one of the important clinical application of genetic diagnosis. In the case of DMD/BMD with deletions of the dystrophin gene, carrier diagnosis is difficult because of the existence of normal X chromosome. In these cases a linkage analysis is useful, and in some cases non-carriers can be directly diagnosed on the basis of microsattelite polymorphism detected in deleted region of patient.
For the molecular diagnosis of DMD/BMD it is important to analyze not only at the genomic DNA level, but also at the mRNA, protein, and clinical levels. And the relationship between the molecular abnormality and clinical phenotype should be examined, especially extramuscular symptoms such as heart failure and mental retardation.View full abstractDownload PDF (2389K) -
Akihiro Oshima1998 Volume 30 Issue 2 Pages 148-151
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSWe generated a β-galactosidosis mouse by gene targeting in an embryonic stem cell. Clinical, pathological, and biochemical analyses revealed that this mouse is a useful animal model to study the pathogenesis and therapy of human GM1-gangliosidosis.View full abstractDownload PDF (2366K) -
Shinichiro Hamano, Manabu Tanaka, Masayuki Imai, Takahiro Nara, Kihei ...1998 Volume 30 Issue 2 Pages 152-158
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSTo predict the prognosis of tuberous sclerosis with West syndrome, we studied the relation between the cortical tubers and the neurological evolution. We reviewed the clinical data on the seizure evolution and developmental status of 7 patients (3 males and 4 females) and estimated the number, size and location of cortical tubers on 5 mm-thick T2-weighted MR images. The cortical tubers were grouped into 3 categories: small (10 mm or less in maximum diameter), medium (10 to 25 mm) and large (25 mm or more). The first MRI study was performed at ages from 3 months to 18 years, and the follow-up study was performed on 6 out of the 7 patients. We also estimated the interval change of cortical.tubers. The average number of cortical tubers was 12.1 per patient, being larger than the values previously reported for the patients of tuberous sclerosis without West syndrome. However, the numbers varied widely from 1 to 29. Two patients with good outcome had more than 10 tubers, whereas two patients with poor outcome had less than 5 tubers. All the patients with good outcome were female. Follow-up MRI in one patient revealed a marked increase in the number of cortical tubers, from 15 (at the age of 5 months) to 23 (at 4 years 2 months), which probably resulted from physiological hypomyelination during infancy. Some tubers corresponded to a electroencephalographic focus, whereas others did not. There was no difference in the topography of cortical tubers between the patients with good prognosis and those with poor prognosis. Thus, it was hard to make the prognosticate a case of tuberous sclerosis based solely on the number and topography of cortical tubers on MRI.View full abstractDownload PDF (6492K) -
[in Japanese], [in Japanese], [in Japanese], [in Japanese], [in Japane ...1998 Volume 30 Issue 2 Pages 159-161
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESS -
[in Japanese]1998 Volume 30 Issue 2 Pages 165-166
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
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[in Japanese], [in Japanese]1998 Volume 30 Issue 2 Pages 169-175
Published: March 01, 1998
Released on J-STAGE: August 10, 2011
JOURNAL FREE ACCESSDownload PDF (960K)
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