研究者詳細 - 小野寺　理

論文 - 小野寺　理

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Trial to establish an animal model of paraneoplastic cerebellar degeneration (PCD) with anti-Yo antibody 2. Passive transfer of murine mononuclear cells activated with recombinant Yo protein to naive SJL or PCD lympphocytes to severe combined immunodefic 査読

Tanaka K, Tanaka M, Igarashi S, Onodera O, Miyatake T, Tsuji S

Clin Neurol Neurosurg 97 101 - 105 1995年

Paraneoplastic cerebellar degeneration - Characterization of anti-yo antibody and underlying cancer 査読

K. Tanaka, M. Tanaka, O. Onodera, S. Tsuji

Clinical Neurology 35 ( 7 ) 770 - 774 1995年

記述言語：日本語掲載種別：研究論文（学術雑誌）

A group of patients with paraneoplastic cerebellar degeneration (PCD) have shown to produce auto-antibody to both neurons and tumor cells (anti-Yo antibody). More than 60% of these patients have shown neurological symptoms and anti-Yo antibody production before the underlying cancers were found, which suggests that the test for anti-Yo antibody is important for the early detection and treatment of cancer. Originally, anti-Yo antibody has been characterized as 1)labelling the cytoplasm of cerebellar Purkinje cells immunohistochemically, 2)binding to the 62 and 34kDa bands on immunoblots of Purkinje cell extracts, 3) being present in female patients with gynecological or breast cancers. Recently, the common binding-epitope of anti-Yo antibody has been reported as leucine-zipper protein. In order to detect the anti-Yo antibody precisely, we examined the immunohistochemical and western blot characters of the recombinant leucine-zipper protein- reactive (anti-Yo) antibody. The results were, 1)sera containing leucine- zipper protein-reactive antibody labels both cerebellar Purkinje cells but some sera might contain other antibodies together with anti-Yo that confuse the immunostaining character of anti-Yo antibody, 2)the antibody binds to 58 kDa band and sometimes co-binds to 34kDa on immunoblots of cerebellar tissue extracts. The underlying cancers are mainly adenocarcinoma in the ovary, fallopian tube, uterus, or breast but occasionally large cell lung and bile duct cancers have been found. Interestingly, a male patient had an antibody similar in character to be anti-Yo antibody immunohistochemically and on immunoblots, that did not recognize leucine-zipper protein and the underlying carcinoma was small cell lung cancer. These results suggest that 1) the diagnosis of anti-Yo antibody should be based on the antibody's reactivity with leucine-zipper protein, 2) some sera with the anti-Yo antibody label other tissues besides the Purkinje cell cytoplasm because of the co-existance of other antibodies seen immunohistochemically and on immunoblots, 3) the search for underlying cancers should not be limited to gynecological or breast carcinomas.

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Lack of association between dopamine D4 receptor gene and schizophrenia 査読

T. Tanaka, S. Igarashi, O. Onodera, H. Tanaka, K. Kameda, K. Takahashi, S. Tsuji, S. Ihda

American Journal of Medical Genetics - Neuropsychiatric Genetics 60 ( 6 ) 580 - 582 1995年

記述言語：英語掲載種別：研究論文（学術雑誌）

An intriguing property of the dopamine D4 receptor gene is a hypervariable segment in the coding region characterized by a varying number of direct imperfect 48 bp repeats (2-8 or 10 repeats) in the third exon of the gene [Lichter et al., 1993: Hum Mol Genet 2:767-773]. The authors analyzed 70 unrelated schizophrenics and 70 normal controls to determine the allele and genotype frequencies created by length polymorphism of dopamine D4 receptor gene. All patients and controls were unrelated and from the Japanese population. Patients were divided into three groups with regard to age at onset, familial loading, and severity of symptoms assessed strictly with Manchester scale. There were no statistically significant differences if the distributions of alleles and genotypes were analyzed for schizophrenia as a whole or analyzed in consideration of those clinical subtypes. Lichter and colleagues [1993] have reported that at least 25 haplotypes exist for this polymorphic region of the dopamine receptor D4 gene. In this study only the alleles created by length polymorphism were analyzed, and further investigation to determine the haplotypes of patients and controls on using a much larger sample size will be required.

DOI： 10.1002/ajmg.1320600620

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PARTIAL DELETIONS OF PUTATIVE ADRENOLEUKODYSTROPHY (ALD) GENE IN JAPANESE ALD PATIENTS 査読

R KOIKE, O ONODERA, H TABE, K KANEKO, T MIYATAKE, S IWASAKI, M NAKANO, N SHIZUMA, K IKEGUCHI, M NISHIZAWA, J MOSSER, CO SARDE, S TSUJI

HUMAN MUTATION 6 ( 3 ) 263 - 267 1995年

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) - MOLECULAR-BASIS FOR WIDE CLINICAL-FEATURES OF DRPLA 査読

T IKEUCHI, R KOIDE, O ONODERA, H TANAKA, M OYAKE, H TAKANO, S TSUJI

CLINICAL NEUROSCIENCE 3 ( 1 ) 23 - 27 1995年

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：WILEY-LISS

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder characterized clinically by various combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis, dementia and psychiatric symptoms. Based on the phenomenon of anticipation, the gene for DRPLA was recently identified. DRPLA is caused by unstable expansion of a CAG repeat in the gene located on the short arm of chromosome 12. As have been observed in Huntington's disease and SCA1, there is a strong correlation between the age of onset and the size of CAG repeats. Furthermore, patients with larger repeats tend to show a PME (progressive myoclonus epilepsy) phenotype as well as earlier ages of onset. More prominent anticipation and larger intergenerational increase of CAG repeats in paternal transmission can be accounted for by the meiotic instability of CAG repeats in male gametogenesis. Comparison of size distributions of CAG repeats in Japanese, African-American and white populations revealed that 7.4% of the Japanese alleles had greater than 19 repeats, whereas none of the whites and 1% of the African-American alleles were of this size. The results may account for the ethnic predilection of DRPLA. (C) 1995 Wiley-Liss, Inc.

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PASSIVE TRANSFER AND ACTIVE IMMUNIZATION WITH THE RECOMBINANT LEUCINE-ZIPPER (YO) PROTEIN AS AN ATTEMPT TO ESTABLISH AN ANIMAL-MODEL OF PARANEOPLASTIC CEREBELLAR DEGENERATION 査読

K TANAKA, M TANAKA, O ONODERA, S IGARASHI, T MIYATAKE, S TSUJI

JOURNAL OF THE NEUROLOGICAL SCIENCES 127 ( 2 ) 153 - 158 1994年12月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：ELSEVIER SCIENCE BV

Passive transfer of paraneoplastic cerebellar degeneration (PCD) IgG to rodents as well as active immunization with recombinant Yo fusion protein were tried in order to examine the roles of anti-Purkinje cell antibody (anti-Yo antibody) present in the sera and cerebrospinal fluid of patients with PCD in Purkinje cell loss, the hall mark of PCD pathology. On a single injection of PCD IgG to mouse brain, IgG was taken into Purkinje cells and remained there for more than 36 h without Purkinje cell loss. Injection of PCD IgG together with complement or lipopolysaccharide-activated human macrophages or rat mononuclear cells to rats ventricles did not cause Purkinje cell loss. We made a recombinant Yo fusion protein that has the leucine-zipper protein (Yo protein), the common epitope for anti-Yo antibody. Mice immunized with this Yo protein produced high titer antibody against it for more than 3 months, during which time neither neurological symptoms nor Purkinje cell loss occurred. The anti-Yo antibody, with or without complement or activated mononuclear cells, therefore could not be the sole cause of Purkinje cell loss.

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TRINUCLEOTIDE REPEAT LENGTH AND RATE OF PROGRESSION OF HUNTINGTONS-DISEASE 査読

SN ILLARIOSHKIN, S IGARASHI, O ONODERA, ED MARKOVA, NN NIKOLSKAYA, H TANAKA, TZ CHABRASHWILI, NG INSAROVA, K ENDO, IA IVANOVASMOLENSKAYA, S TSUJI

ANNALS OF NEUROLOGY 36 ( 4 ) 630 - 635 1994年10月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：LITTLE BROWN CO

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.

DOI： 10.1002/ana.410360412

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APOE-EPSILON-4 AND EARLY-ONSET ALZHEIMERS 査読

K OKUIZUMI, O ONODERA, H TANAKA, H KOBAYASHI, S TSUJI, H TAKAHASHI, K OYANAGI, K SEKI, M TANAKA, S NARUSE, T MIYATAKE, H MIZUSAWA, KANAZAWA, I

NATURE GENETICS 7 ( 1 ) 10 - 11 1994年5月

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

K. Tanaka, M. Tanaka, O. Onodera, S. Igarashi, S. Tsuji

Brain and Nerve 46 ( 1 ) 47 - 51 1994年

記述言語：日本語掲載種別：研究論文（学術雑誌）

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 possesing 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.

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Correlation between degrees of the CTG repeat expansion and clinical features of myotonic dystrophy 査読

I. Eguchi, R. Koike, O. Onodera, K. Tanaka, H. Kondo, S. Tsuji

Clinical Neurology 34 ( 2 ) 118 - 123 1994年

記述言語：日本語掲載種別：研究論文（学術雑誌）

The mutation in myotonic dystrophy gene has recently been identified as an unstable expanison of trinucleotide CTG repeat located at the 3'-untranslated region of myotoninprotein 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 190 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. Our study indicates that Southern blot hybridization analysis of leukocyte genomic DNA was effective for the evaluation of muscle weakness and mental deficiency based on the sizes of the expanded allele.

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MRI findings of posterior spinal artery syndrome - Report of a case 査読

K. Okuizumi, M. Wakasugi, O. Onodera, H. Okumura, S. Tsuji

Clinical Neurology 34 ( 11 ) 1116 - 1120 1994年

記述言語：日本語掲載種別：研究論文（学術雑誌）

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.

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USE OF A RADIATION-REDUCED HYBRID PANEL FOR THE LOCALIZATION OF 7 MARKERS IN THE XQ28 REGION OF THE HUMAN GENOME 査読

A SMAHI, B PETERLIN, O ONODERA, S TSUJI, MC FULCHIGNONILATAUD

ANNALES DE GENETIQUE 37 ( 1 ) 11 - 13 1994年

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：EXPANSION SCI FRANCAISE

Two genes (QM and biglycan), three cDNAs expressed in the brain (TH4, TH27, p877) and two microsatellites (AFM224zg11 and AFM287ze5) are assigned in the six sub regions delimited by an IRHs panel of the human Xq28 region.

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CHROMOSOMAL LOCALIZATION OF THE EPSILON-1, EPSILON-3, AND ZETA-1 SUBUNIT GENES OF THE HUMAN NMDA RECEPTOR-CHANNEL 査読

H TAKANO, O ONODERA, H TANAKA, H MORI, K SAKIMURA, T HORI, H KOBAYASHI, M MISHINA, S TSUJI

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 197 ( 2 ) 922 - 926 1993年12月

ABSENCE OF LINKAGE DISEQUILIBRIUM AT AMYLOID PRECURSOR PROTEIN GENE LOCUS IN JAPANESE FAMILIAL ALZHEIMERS-DISEASE WITH 717VAL-]ILE MUTATION 査読

H TANAKA, S NARUSE, K SEKI, O ONODERA, H KOBAYASHI, T MIYATAKE, A SHIBATA, Y SAKAKI, K KAMINO, T MIKI, N NUKINA, M IMAGAWA, NAKANO, I, T SHIMIZU, T KOJIMA, J HARDY, S TSUJI

NEUROSCIENCE LETTERS 162 ( 1-2 ) 63 - 66 1993年11月

記述言語：英語掲載種別：研究論文（学術雑誌）出版者・発行元：ELSEVIER SCI IRELAND LTD

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.

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Positional cloning--current status and future directions 査読

Onodera, O., Tsuji, S.

Nippon rinsho. Japanese journal of clinical medicine 51 ( 9 ) 2225 - 2233 1993年9月

Molecular genetic approach for positional cloning of X-chromosome-linked diseases 査読

Onodera, O., Tanabe, H., Tuji, S., Kaneko, K., Kobayashi, H.

Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme 38 ( 3 ) 354 - 360 1993年2月

HTRA1 Disorder 査読

Osamu Onodera, Hiroaki Nozaki, Toshio Fukutake

1993年

記述言語：英語出版者・発行元：University of Washington, Seattle

CLINICAL CHARACTERISTICS: HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD. DIAGNOSIS/TESTING: The diagnosis of HTRA1 disorder is established in a proband by identification of either a heterozygous or biallelic pathogenic variant(s) in HTRA1 on molecular genetic testing. MANAGEMENT: Treatment of manifestations: Consideration of anti-platelet therapy and anti-hypertensive therapy for those with cerebral microbleeds; physical therapy, walking aids, and home adaptations for those with gait disturbance; consideration of medication (baclofen or tizanidine) for spasticity; wig or hairpiece for those with alopecia; standard treatment for spinal spondylosis and mood disorder; supportive care including emotional support and counseling for affected individuals and their families. Surveillance: Follow-up intervals are based on the severity and type of symptoms and the needs of the individuals and their caregivers. Agents/circumstances to avoid: Smoking and a high-salt diet, which may hasten the progression of arteriosclerosis. GENETIC COUNSELING: HTRA1 disorder caused by biallelic pathogenic variants (i.e., the classic CARASIL phenotype) is inherited in an autosomal recessive manner. HTRA1 disorder caused by heterozygous pathogenic variants is inherited in an autosomal dominant manner. Autosomal recessive inheritance. At conception, each sib of an affected individual has a 25% chance of inheriting both HTRA1 pathogenic variants and being affected, a 50% chance of inheriting one pathogenic variant and being heterozygous, and a 25% chance of inheriting neither pathogenic variant and not being at risk for HTRA1 disorder. Autosomal dominant inheritance. Each sib of an affected individual has a 50% risk of inheriting the pathogenic variant from their affected parent. Once the HTRA1 pathogenic variant(s) have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing for HTRA1 disorder are possible.

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CARASIL 査読

Onodera O, Nozaki H, Fukutake T, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A

1993年

Spinocerebellar Ataxia Type 17 査読

Yasuko Toyoshima, Osamu Onodera, Mitsunori Yamada, Shoji Tsuji, Hitoshi Takahashi

1993年

記述言語：英語出版者・発行元：University of Washington, Seattle

CLINICAL CHARACTERISTICS: Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course. DIAGNOSIS/TESTING: The diagnosis of SCA17 is established in a proband by identification of an abnormal CAG/CAA repeat expansion in TBP. Affected individuals usually have more than 41 repeats. The CAA and CAG codons both encode glutamine residues resulting in a pathogenic polyglutamine expansion. MANAGEMENT: Treatment of manifestations: Psychotropic medications for psychiatric problems, antiepileptic drugs for seizures (AEDs); botulinum toxin injections for dystonia; adaptation of the environment to accommodate dementia. Prevention of secondary complications: Side effects of psychotropic medications and AEDs may require total or intermittent discontinuation of the treatment or reduction in dose. Surveillance: Annual or semiannual evaluation by a neurologist or more frequently if symptoms are progressing rapidly. Agents/circumstances to avoid: Sedative/hypnotic agents, such as ethanol or certain medications, may exacerbate incoordination. GENETIC COUNSELING: SCA17 is inherited in an autosomal dominant manner. Offspring of affected individuals are at a 50% risk of inheriting the expanded TBP allele. The age of onset, severity, specific symptoms, and progression of the disease are variable and cannot be precisely predicted by family history or size of expansion. Prenatal testing for pregnancies at increased risk is possible if the diagnosis has been established in an affected family member by molecular genetic testing.

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MRI findings of olivopontocerebellar atrophy and Machado-Joseph disease - Diagnostic value of transverse pontine fibers 査読

J. Idezuka, O. Onodera, T. Yuasa, S. Tsuji, J. Ito

Clinical Neurology 33 ( 3 ) 289 - 293 1993年

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