Search PubMed⌕ Search

Biomedical subjects

A Wakisaka

Publications and source records attributed to A Wakisaka.

At least 73 records · Page 4Linked to original sources
PubMed1992

[Clinicopathological study of Joseph disease: report of 4 pedigrees and its nosological consideration].

Four pedigrees of Machado-Joseph disease (MJD) were reported. Main clinical features of 21 patients in these pedigrees were cerebellar ataxia, limb spasticity, gaze nystagmus, facio-lingual twitchings, and external ophthalmoparesis. Amyotrophy, hypokinesia, or dystonia were manifested with advance of the illness. In patients with younger onset age, such extrapyramidal signs were dominated. Neuropathological study of one autopsied case disclosed that there were degeneration of spinocerebellar tract, anterior horn cells, pontine nuclei, dentate nucleus, red nucleus, substantia nigra, internal segment of globus pallidus, subthalamic nucleus, and motor nuclei of brain stem; neurons of cerebellar cortex and inferior olivary nucleus were preserved. From these clinical and pathological features, these 4 pedigrees satisfied the criteria of MJD, and were differentiated from hereditary olivopontocerebellar atrophy. Currently, MJD is accepted as a new entity of hereditary spinocerebellar ataxias. However, there are still controversies as to whether Azores-Portuguese MJD and Japanese MJD are identical disorder. Furthermore, the nosological relationship between MJD and a number of similar cases, as reported historically under the diagnosis of Brown type ataxia or Marie's ataxia, has not been clearly established. From reviewing such cases critically, pathological and clinical features of our cases are so similar to those of the latter, indicating that the probably identical genetic disorder has been classified under the different categories.

Adult↗
PubMed1992

[Linkage study of Machado-Joseph disease: genetic evidence for the locus different from SCA1].

Spinocerebellar ataxia 1 (SCA1) is the locus symbol of hereditary olivopontocerebellar atrophy, and it is mapped on the short arm of chromosome 6. D6S89 is the polymorphic DNA marker linked tightly to SCA1. In order to examine whether SCA1 and Machado-Joseph disease (MJD) loci are different from each other, we performed linkage study for D6S89 to MJD locus. A total of 20 pedigrees of MJD were analysed. Number of individuals consists of 211 members. Among them, 74 were affected. Consequently, 14 pedigrees showed negative lod score, and 6 showed weak positive lod scores at most of recombination fractions. As a whole, linkage between MJD locus and D6S89 was excluded at recombination fraction of 0.15. Our results further support the concept that MJD is not an allelic disorder but distinct genetic entity from SCA1.

Adult↗
PubMed1992

[Linkage study of hereditary olivopontocerebellar atrophy: genetic evidence for locus heterogeneity in Japanese cases].

Spinocerebellar ataxial 1 (SCA1) is the locus name of autosomal dominant olivopontocerebellar atrophy (OPCA), and is assigned to the short arm of chromosome 6. The tight linkage between SCA1 and D6S89 has recently been reported. In order to examine possible locus heterogeneity, we studied linkage for D6S89 to disease loci in 16 pedigrees of dominant OPCA. D6S89 polymorphism was analysed with PCR amplification of genomic DNA by using specific oligonucleotide primers. Lod scores were computed by LIPED program with the correction of age-dependent penetrance. Homogeneity test was performed by using HOMOG program. Fifteen out of 16 pedigrees were informative to D6S89. Among them, 7 pedigrees showed positive and 8 pedigrees showed negative lod scores throughout all recombination fractions. Homogeneity testing disclosed that approximately 55% of pedigrees are linked to D6S89, and others were not linked. Our results provide evidences that dominant OPCA in Japan are genetically heterogenous. At now, it has been still unknown whether there are any clinico-pathological differences among OPCA genotypes. Based on the alpha-constant from homogeneity testing, we divided our pedigrees into linked-pedigree (SCA1) and nonlinked-pedigrees (nonSCA1). Then, clinical features were compared between these two groups. Hyperactive DTR was more common in SCA1 than nonSCA1 group. On the other hand, hypoactive DTR was more significantly dominated in nonSCA1 than SCA1. Slow saccade and Babinski sign were common in both groups. Although not statistically significant, nystagmus, exteral ophthalmoparesis, mydriasis, ptosis, facio-lingual twitching, and limb spasticity were more frequently observed in SCA1 than nonSCA1. These results indicate that there are possible correlation between disease genotype and phenotype.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Association of the complement allele C4AQ0 with primary Sjögren's syndrome in Japanese patients.

We studied allotypes of the fourth component of complement (C4) and factor B in 76 patients with Sjögren's syndrome (SS) and in 63 normal subjects. C4A-null (C4AQ0) was found in 10 of 28 patients who had primary SS, compared with 1 of 63 control subjects (P less than 0.005). In contrast, no significant difference in the frequency of any C4 allotype was observed between patients with secondary SS and control subjects. An association of HLA-DRw53 with primary SS in Japanese patients has been reported. Since there is no linkage disequilibrium between DRw53 and C4AQ0, it is possible that at least 2 genes in the major histocompatibility complex may determine susceptibility to the development of primary SS in the Japanese population.

Autoimmune Diseases↗
PubMed1991

[Primitive neuroectodermal tumor with Wilms' tumor. Case report].

Occurrence of embryonal kidney tumors in patients with primitive neuroectodermal tumors, so-called central nervous system-renal neoplasia has been reported. An infant who presented with masses in the right lateral ventricle and the cerebellar vermis is reported. Histological examination showed primitive neuroectodermal tumors. Further investigation revealed tumors in the bilateral kidneys, which were removed subtotally and pathologically shown to be Wilms' tumors. The patient was then treated with anticancer drugs and irradiation. However, he developed lung metastases from the renal tumors and expired. At autopsy, a small tumor was found in the inferior horn of the left lateral ventricle. Histological finding showed a primitive neuroectodermal tumor. Also, bilateral large masses of recurrent Wilms' tumors, multiple metastases to the lungs and peritoneal dissemination were found. There is no evidence that this association is based on the selective neoplastic transformation of embryonal cells of similar histogenetic or cytogenetic origin. Several reports demonstrate the presence of embryonal cells in the nervous tissue which could imply a neuroepithelial origin for Wilms' tumors.

Brain Neoplasms↗
PubMed1991

[Clinical study of gene locus heterogeneity in hereditary olivopontocerebellar atrophy (OPCA)--report of 2 pedigrees affected with non SCA1 type OPCA].

From the linkage study of D6S89, we previously reported that hereditary OPCA in Japan is genetically heterogenous. Two pedigrees, P2 and P35, reported in this report, were not linked to D6S89. In order to examine possible correlation between OPCA genotypes and disease phenotypes, we studied clinically eight cases in these two pedigrees. One autopsied case in pedigree P2 was proven to have marked neuronal degeneration in the inferior olivary nuclei, pontine nuclei, cerebellar cortex, and substantia nigra. Dentate nucleus and oculomotor nuclei were free from neuronal degeneration. Clinical features of those 8 patients were fairly uniform, characterized by cerebellar ataxia, hypoactive DTR, and slow eye movement. Parkinsonism or choreiform movements were observed in one patient, respectively. Pupillary dilatation, twitching of face and tongue, limb amyotrophy were observed in patients of advanced stages. However, these signs were not dominating nor common throughout clinical course. None of our cases showed hyperactive DTR, limb spasticity, or external ophthalmoparesis. On the other hand, these latter signs were popular in SCA1 so far as reviewing the literature. The present study showed that there was possible correlation between genotypes and phenotypes in hereditary OPCA.

Adult↗
PubMed1991

[A hist-morphometrical study of undecalcified sections of bone obtained in patients with cervical disorders].

Histomorphometrical parameters were used to investigate bone metabolism in patients with symptomatic cervical disorders, especially those patients with ossification of the posterior longitudinal ligament (OPLL) of the cervical spine. There were 19 patients in this study. The patients were divided into two groups depending on the presence of OPLL. Six patients had OPLL (OPLL group), 13 patients did not (non-OPLL group). All patients received pre-operative labelling with tetracycline. There was a positive correlation between vertebral body and iliac bone in the parameters of trabecular osteoid specific volume, relative osteoid volume and relative formation surface. The vertebra/ilium ratio of the mineral apposition rate, which suggests bone formation in vertebral body relatively, was higher in OPLL group significantly. The present study concludes that OPLL can be considered a condition of hyperostosis though, bone formation ability in the vertebral body of OPLL is higher than in the ilium.

Adult↗
PubMed1990

[A clinical study of a family affected with HLA-linked hereditary spinocerebellar ataxia].

The gene locus of hereditary olivopontocerebellar atrophy (OPCA) has been mapped to the short arm of chromosome 6. This locus has been termed as SCA 1 and it is linked to HLA locus. Linkage for OPCA locus to HLA was first been reported by Yakura et al. We had a chance to re-investigate the original family reported by them. Among the members affected, 6 cases were autopsied and their clinical and pathological features were reported by Fujimoto et al. Kudoh et al, and Ikeda. We clinically studied 2 additional patients in this pedigree. The clinical features of these patients, including 6 previously reported cases, were characterized by 1) cerebellar ataxia predominating throughout clinical course; 2) pyramidal tract involvement, characterized by pathological reflexes, with hyper-reflexia or terminal hyporeflexia; 3) generalized muscle atrophy; 4) slow eye movement; 5) facial and tongue atrophy; 6) optic disc pallor; 7) terminal external ophthalmoparesis; 8) mydriasis and sluggish light reflex; 9) mild peripheral neuropathy; 10) mild reduction of deep sense; 11) bulbar symptom; 12) emotional lability, irritation, or euphoria dominating terminally. Clinically, there are certain similarities between this pedigree and other reported pedigrees of which linkage for OPCA locus to HLA have been proved. Furthermore, clinico-pathological reports of hereditary OPCA showing slow eye movement share numbers of clinical characteristics observed in the patients of this pedigree. Accumulating linkage data suggest that hereditary OPCA might be heterogenous disorder genetically. Whether there are any correlation between linkage data and clinico-pathological findings is essential to establish disease entities, and to re-classify hereditary OPCA and its related disorders.

Adolescent↗
PubMed1989

The T-cell receptor alpha, beta and gamma polymorphism in Japanese.

Polymorphism in the genes encoding the alpha (alpha), beta (beta) and gamma (gamma) chains of the human T-cell receptors was analyzed both in population and family studies. Against twelve unrelated Japanese, several out of the 15 restriction endonucleases tested, revealed restriction fragment length polymorphism. The segregation of the polymorphic fragments were confirmed among 15 members of three families. In most of the cases paternal and/or maternal haplotypes could be assigned. By testing the polymorphic enzymes among the random healthy Japanese, the frequency of each polymorphic fragment was then determined. Although the polymorphism found in this study was similar to that reported in Caucasians, some differences were observed. Such differences are discussed. The restriction fragment length polymorphism in both population and family studies, derived from alpha, beta and gamma chains of the T-cell receptor found in this report, might be useful markers for genetic analysis of the T-cell function in relation to immunological disorders.

Humans↗
PubMed1988

HLA-DQ system and insulin-dependent diabetes mellitus in Japanese: does it contribute to the development of IDDM as it does in Caucasians?

Fifty-six unrelated Japanese patients with insulin-dependent diabetes mellitus (IDDM) were HLA-typed, and restriction fragment length polymorphism (RFLP) analysis was performed after enzyme digestion with Bam HI and Taq I by using both DR and DQ probes. As previously reported, increased frequencies of Bw54, Cw1, DR4, and DRw53, which are in strong linkage disequilibrium in the Japanese population and make the characteristic Japanese haplotype, were confirmed. DQw4, a new allele of the DQ system recognized by the monoclonal antibody HU-46 and in linkage disequilibrium with this haplotype, presented the highest IDDM association. The RFLP analysis also showed the strongest correlation to IDDM when the DQ probe was applied. These results indicate that HLA-DQ might play the most important role in the development of IDDM in Japanese as well as in Caucasians. The correlation of DQ beta amino acid sequences strongly associated with IDDM in Japanese are discussed in this study, and contrasting results were found when such sequences were compared with those of Caucasians.

Amino Acid Sequence↗
PubMed1988

Gallstones, serum lipids, and glucose tolerance among male officials of Self-Defense Forces in Japan.

The relationships of gallstones and the postcholecystectomy state with serum total cholesterol, serum triglycerides, glucose tolerance, and obesity were examined in male officials of the Self-Defense Forces in northern Kyushu, Japan. The study population had rather low rates of gallstones (2%) and prior cholecystectomy (3%). A strong relationship between obesity and gallstones was confirmed. Glucose intolerance was associated with the risk of gallstones independent of obesity. No relation between gallstones and either serum total cholesterol or triglycerides after adjustment for obesity and glucose tolerance was evident. However, the serum concentration of total cholesterol among men having had a cholecystectomy was less than that of those without gallstones.

Blood Glucose↗
PubMed1987

Factors associated with clinical reactions to rubella vaccination in women.

Two types of rubella vaccine were given to 272 seronegative healthy Japanese adult women. Clinical and laboratory studies on clinical reaction after vaccination were carried out on HI antibody response, HLA types, basal body temperature (BBT), menstrual cycles and serum progesterone levels of vaccinees. Clinical reactions were not associated with HLA types of vaccinees, but arthropathy occurred significantly more often in women vaccinated at the progestational stage than in women vaccinated at the estrogenic stage.

Adult↗
PubMed1987

A cytotoxic monoclonal antibody (HU-39) that detects DRw8 + DRw12.

A monoclonal antibody, HU-39, was produced by immunizing BALB/c mice with a cultured human B lymphoblastoid cell line, Shi-C3 (HLA-A24, A31, B51, Bw52, DR2, DRw12, DQw1, DQw3). Utilizing the complement-dependent cytotoxicity test, HU-39 was found to detect a polymorphic determinant common to HLA-DRw8 and HLA-DRw12, a split antigen of HLA-DR5. Although HU-39 reacted with the cells from all of nine DRw12 positive individuals, the cells from only 18 out of 21 DRw8 positive individuals reacted with HU-39 and the remaining three were negative for HU-39. The cytotoxicity of the antibody was reduced after the surface HLA-DR molecules of two cell lines, GI and EBV-Sh, typed as DRw8 and DRw12, respectively, were masked with F(ab')2, of anti-HLA-DR monoclonal antibody. The results of the sequential coprecipitation test and the two-dimensional gel electrophoresis by using EBV-Sh also indicated that HU-39 preferentially recognizes an epitope borne on the DR molecules, but not on the DQ molecules. Thus, HU-39 appeared to be of great value as a tissue typing reagent to define DRw8 and DRw12, the latter of which had been difficult to assign because of the lack of monospecific alloantisera.

Antibodies, Monoclonal↗
PubMed1987

New Dw8 associated class II specificities defined by cytotoxic T lymphocyte clones.

Two Leu2(-), Leu3(+), Leu4(+) human cytotoxic T lymphocyte (CTL) clones, BE-11 and AF-3, were generated against Epstein-Barr virus (EBV)-transformed cell line GI (Dw8/DRw8/DQWa homozygous). Blocking experiments with various monoclonal antibodies (MoAbs) revealed that the former recognized the DR molecule and the latter recognized the DQ molecule, respectively. Panel studies showed that CTL clone BE-11 lysed not only DRw8-positive cells but also DR1-positive ones. CTL clone AF-3 exhibited cytotoxicity against only Dw8/DRw8/DQWa typed cells. Until now, such specificities have not been defined serologically or biochemically. These results demonstrated that the previously unknown DR and DQ specificities could be defined by CTL clones, suggesting that CTL clones might be especially valuable tools for investigating the structural polymorphism of HLA antigens.

Antibodies, Monoclonal↗