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Biomedical subjects

O Onodera

Publications and source records attributed to O Onodera.

At least 73 records · Page 4Linked to original sources
PubMed1994

Trinucleotide repeat length and rate of progression of Huntington's disease.

The Huntington's disease gene contains an expanded unstable (CAG)n repeat, and the repeat lengths have been shown to correlate with the age of onset. Using detailed clinical scales, we evaluated the rate of progression of Huntington's disease and its relationship to the number of triplet repeats. We found significant positive correlation between the rate of progression of clinical symptoms (both neurological and psychiatric) and CAG repeat length. These data suggest an important role of expanded trinucleotide repeat length in affecting the pathological process during the entire course of Huntington's disease.

Base Sequence↗
PubMed1994

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified unstable expansion of a CAG in a gene on chromosome 12 in all the 22 DRPLA patients examined. A good correlation between the size of the CAG repeat expansion and the ages of disease onset is found in this group. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. We propose that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.

Adolescent↗
PubMed1994

[MRI findings of posterior spinal artery syndrome--report of a case].

A 58-year-old woman presented with sudden onset of numbness and weakness of the lower limbs. She showed paraparesis associated with hyperreflexia and pathological reflexes in lower limbs. She showed decreased sensation of vibration and proprioception in lower limbs, as well as tingling sensation below Th11 level. Pinprick and thermal sensations were spared. Magnetic resonance imaging (MRI) of the spinal cord revealed a symmetric high signal intensity area at the posterior medial part of the spinal cord spanning Th9 to Th11 on T2-weighted and proton density images. On the basis of clinical findings as well as MRI findings, we made a diagnosis of posterior spinal artery syndrome. The MRI findings are considered to be highly useful for the diagnosis of PSAS.

Diagnosis, Differential↗
PubMed1994

[The detection of anti-Purkinje cell antibody (anti-Yo antibody) by ELISA using recombinant Yo fusion protein].

Paraneoplastic cerebellar degeneration (PCD) is a remote effect of cancer mediated by possibly immunological mechanisms. The sera and cerebrospinal fluid of PCD patients containing high titer autoantibody against cerebellar Purkinje cells had been reported. This antibody binds to 62-kD and 34-kD bands of cerebellar Purkinje cell homogenates (anti-Yo antibody). However, it is not always true that the autoantibody of this character on immunoblot and immunohistochemistry recognizes the same molecule. Recently, the DNA sequence encoding the Yo antigen, whose common epitope is a sequence containing leucine-zipper motif, was reported. We made the recombinant protein deduced from the cDNA clone encoding the leucine-zipper motif of the Yo antigen. Using this recombinant protein as the antigen for ELISA, the anti Yo antibodies in the sera and CSF were examined and 3 new patients with PCD possessing anti-Yo antibody were found. The sera of one patient, serially taken during several kinds of treatment were examined with this ELISA system, which revealed that the anti-Yo antibody titer was increased after plasmapheresis and reduced after tumor resection and anti-cancer chemotherapy. The early resection of malignant tumors may prevent the continuous production of high titer anti-Yo antibody and stop the progression of cerebellar tissue damage.

Adult↗
PubMed1994

[Correlation between degrees of the CTG repeat expansion and clinical features of myotonic dystrophy].

The mutation in myotonic dystrophy gene has recently been identified as an unstable expansion of trinucleotide CTG repeat located at the 3'-untranslated region of myotonin protein kinase gene. In this paper we report the correlation between the degree of CTG amplification and clinical features in 35 individuals with myotonic dystrophy. The analysis of CTG repeat expansion was performed with Southern blot hybridization. Genomic DNA from peripheral blood leukocytes was digested with a restriction endonuclease, Pst I, instead of commonly used EcoRI. Since small expansion (about 100 bp) could be detected with PstI digestion and furthermore, the DNA fragment did not contain insertion/deletion polymorphism, we were able to accurately determine the exact sizes of CTG repeat expansion. We have observed a tendency of earlier ages of onset with larger allele sizes. The good correlation between the size of the expansion and the severity in muscle weakness was clearly demonstrated especially if the analysis was focused on the patients at same age group at 40-45 years. The severity of motor disability was classified into three stages. The mean size of expansion was 0.33 +/- 0.17 (M +/- SD) kbp in stage I, 2.58 +/- 1.42 kbp in stage II, and 4.75 +/- 0.93 kbp in stage III. The tendency was also observed when patients were categorized according to the intellectual grade. The anticipation was observed in all the parent-child pairs. When the increases of the repeat expansions were compared between father-child and mother-child transmissions, broader variation of the increases was observed in father-child transmissions.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1993

Chromosomal localization of the epsilon 1, epsilon 3 and zeta 1 subunit genes of the human NMDA receptor channel.

Partial complementary DNAs for the epsilon 1, epsilon 3 and zeta 1 subunits of the human N-methyl-D-aspartate (NMDA) receptor channel were cloned using the corresponding mouse subunit cDNA clones as probes. Genomic DNA clones for the human epsilon 1, epsilon 3 and zeta 1 subunit genes were isolated using the corresponding partial cDNA clones as probes. By the fluorescence in situ hybridization, we mapped the genes for the epsilon 1, epsilon 3 and zeta 1 subunits of the human NMDA receptor channel to chromosomes 16p13, 17q25 and 9q34, respectively.

Adult↗
PubMed1993

Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation.

To date, eleven independent FAD pedigrees with the 717Val-->Ile mutation have been identified. Interestingly, five pedigrees were of Japanese origin and four were of British origin. The apparent ethnic prediction of this mutation raises the possibility that there is a founder effect in these two island nations. We did not observe any significant linkage disequilibrium in any locus of APP and GT12 loci in the five Japanese FAD pedigrees with the 717Val-->Ile mutation. A founder effect would probably not be present in Japanese FAD pedgrees with the 717Val-->Ile mutation.

Alleles↗
PubMed1993

[MRI findings of olivopontocerebellar atrophy and Machado-Joseph disease--diagnostic value of transverse pontine fibers].

Olivopontocerebellar atrophy (OPCA) and Machado-Hoseph disease (MJD) occasionally show similar clinical signs and symptoms, which makes differential diagnosis of OPCA and MJD difficult. In 1990, Savoiardo et al. reported that the transverse pontine fibers of OPCA patients had high signal intensity on T2 weighted MR images. To determine if the high signal intensity of the transverse pontine fibers is useful for the differential diagnosis of OPCA and MJD, we examined this abnormal intensity in patients diagnosed as OPCA or MJD. We observed the high intensity of transverse pontine fibers in all of the 18 OPCA patients. This finding, however, was not observed in any of the patients with the MJD. The high signal intensity of the transverse pontine fibers in T2 weighted images is characteristic of OPCA patients. Furthermore the atrophy of pontine tegmentum is characteristic of patients with MJD. These findings correlate well with pathological findings of OPCA and MJD, indicating the usefulness of these MRI findings for the differential diagnosis of OPCA and MJD.

Adult↗
PubMed1993

[Positional cloning--current status and future directions].

Several strategies for isolating disease genes have been developed. In functional cloning, the gene is isolated based on information on the function of gene products (proteins). In contrast, positional cloning is based on the isolation of the disease gene, starting from the knowledge of its location on the genome. The flow chart of positional cloning was described as follows; 1) identification of the location of the disease gene by linkage analysis. 2) construction of the physical map spanning the region. 3) isolation of the candidate genes from the region. 4) identification of mutations in the candidate genes, which is specific to the disease. The current concept and strategies on the positional cloning is discussed.

Base Sequence↗
PubMed1992

Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28.

Using a cosmid clone derived from human Xq28 as a probe which shows cross-species homology, we isolated cDNA clones and the nucleotide sequence analysis of the cDNA revealed that the cDNA is identical to QM cDNA. The QM cDNA has recently been reported as a cDNA with down-regulation in tumorigenic Wilms' tumor microcell hybrid. Comparison of the nucleotide sequences of the cDNA with those of the genomic DNA allowed us to determine the genomic organization of the QM gene. The QM gene consists of at least 7 exons and is located at Xq28. Southern blot analysis of a somatic cell hybrid panel indicates that the QM genes are scattered at least to chromosome 2, 3, 6, 14, 16, and possibly to other chromosomes. Northern blot analysis demonstrated the QM gene is expressed in all the examined adult human tissues as well as cell lines including HeLa cells, fibroblasts, and somatic cell hybrids with increased expression in liver, spleen, testis, and adrenal gland. The results suggest that the QM gene belongs to a new multi-gene family with yet undetermined function.

Amino Acid Sequence↗
PubMed1992

Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy.

X-linked spinal and bulbar muscular atrophy (SBMA), a motor neuron disease associated with androgen insensitivity, is caused by androgen receptor gene mutations with an increased number of tandem CAG repeats in exon 1. We investigated the increased number of CAG repeats in androgen receptor genes of 19 SBMA patients and found that this correlated strongly with the age at onset of muscle weakness. Thus, SBMA is the first genetic disease in which a strong correlation between the degree of genetic abnormality (number of CAG tandem repeats) and clinical phenotypic expression is demonstrable. The results further indicate that androgen gene mutation is directly involved in the degeneration of motor neurons.

Adult↗
PubMed1990

Rapid diagnosis of tuberculous meningitis by polymerase chain reaction (PCR).

Using a rapid and highly sensitive method for the diagnosis of tuberculous meningitis by polymerase chain reaction (PCR), we detected the Mycobacterium tuberculosis genome in CSF of 5 of 6 patients with clinically diagnosed tuberculous meningitis. The genome was not present in CSF from 10 patients with other types of meningitis and 10 normal controls.

Adult↗
PubMed1990

[A case of rigid spine syndrome with rimmed vacuole].

A case of rigid spine syndrome associated with rimmed vacuoles in muscle biopsy is reported. A 36-year-old man was admitted to our hospital because of gait disturbance and limited mortality of the spine. His family was free from any neuromuscular disorders. He was born in normal pregnancy and delivery. His physical development was normal. At age 7, he was unable to run fast. At age 36, he had right hemiparesis and dysarthria. He was diagnosed as cerebral infarction of the left basal ganglia by brain CT. Neurological examination revealed moderate proximal dominant muscular atrophy and weakness. His spine was straight, showing loss of physiological cervical and lumbar lordosis. The neck flexion was limited but the extension was full. And he had contracture of bilateral ankle joint. Laboratory findings were all normal. The electrocardiogram showed negative T wave in V4, V5 and QT interval elongation. The echocardiogram showed diffuse decrease of ventricular wall motion. Respiratory function test revealed decrease of vital capacity. Arterial blood gases on room air showed that the PaO2 and PaCO2 were 70 mmHg and 49 mmHg, respectively. The findings of electromyogram were compatible with myopathic change. Biopsy specimen of the biceps brachii muscle showed marked variation in fiber size, type 1 fiber predominancy and atrophy, and type 2B fiber deficiency. Numerous rimmed vaculoes were found in the same muscle. Four cases of the rigid spine syndrome with rimmed vacuoles have been described. Among them, three patients died in young ages and two suffered from constrictive respiratory failure. In rigid spine syndrome with rimmed vacuole formation, the cardiac and respiratory problems must be taken account intensively.

Adult↗
PubMed1989

[Research into actual conditions and preventive care in periodontal disease. Relationship between questionnaire results and periodontal disease in youth].

The purpose of this study was to determine the prevalence of periodontal disease and the relationship between the results of questionnaire concerning periodontal disease and the actual periodontal condition in youth. The examination was carried out in three parts. In the first part, a questionnaire was conducted on 3,886 junior and senior high school students (12 to 18 years of age) living in Kawagoe, Japan. The questionnaire was composed by of items concerning habits of oral hygiene, periodontal symptoms, understanding of periodontal disease and history of diagnosis by dentist of periodontal disease. Secondary, mass intraoral examination was carried out on all objects. The examination covered gingival inflammation, periodontal probing depth, calculus, dental plaque, dental caries and malalignment. Lastly, we examined the relationship between the results of periodontal examination and questionnaire with the original periodontal classification. The following results were obtained: 1. As an example of items in questionnaire, 83.1% brushed their teeth more than two times daily. The understanding of oral hygiene concerning dental caries was improved, but concerning periodontal disease was still poor. 2. The symptom most frequently reported was gingival bleeding during tooth brushing (18.4%). 3. The percentage of persons with periodontal disease (moderate gingival inflammation and periodontal pocket 4 mm or deeper) was of the highest frequency at 13 years old. The proportion of males increased with the advanced state of periodontal disease. 4. A significant correlation was found (chi 2-test: alpha less than 0.001) between advanced state of periodontal disease and a decrease in tooth brushing time per day. 5. A significant correlation was found between the advance of periodontal disease and gingival bleeding on tooth brushing (chi 2-test: alpha less than 0.001). Similarly, a correlation was found between the advance of periodontal disease and gingival swelling (chi 2-test: alpha less than 0.001). 6. A significant correlation was found (chi 2-test: alpha less than 0.001) between the advance of periodontal disease and aggravation of condition of dental plaque, calculus, dental caries and malalignment.

Adolescent↗