研究者詳細 - 小野寺　理

論文 - 小野寺　理

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Cardiac sympathetic denervation in Parkinson's disease linked to SNCA duplication 査読

Satoshi Orimo, Toshiki Uchihara, Ayako Nakamura, Fumiaki Mori, Takeshi Ikeuchi, Osamu Onodera, Masatoyo Nishizawa, Atsushi Ishikawa, Akiyoshi Kakita, Koichi Wakabayashi, Hitoshi Takahashi

ACTA NEUROPATHOLOGICA 116 ( 5 ) 575 - 577 2008年11月

Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis 査読

Yuji Takahashi, Naomi Seki, Hiroyuki Ishiura, Jun Mitsui, Takashi Matsukawa, Atsushi Kishino, Osamu Onodera, Masashi Aoki, Nobuyuki Shimozawa, Shigeo Murayama, Yasuto Itoyama, Yasuyuki Suzuki, Gen Sobue, Masatoyo Nishizawa, Jun Goto, Shoji Tsuji

ARCHIVES OF NEUROLOGY 65 ( 10 ) 1326 - 1332 2008年10月

Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex. 査読

Sakai K, Tada M, Yonemochi Y, Nakajima T, Onodera O, Takahashi H, Kakita A

Neuropathology : official journal of the Japanese Society of Neuropathology 28 ( 5 ) 541 - 546 2008年10月

Prevalence and incidence rates of chronic inflammatory demyelinating polyneuropathy in the Japanese population 査読

M. Iijima, H. Koike, N. Hattori, A. Tamakoshi, M. Katsuno, F. Tanaka, M. Yamamoto, K. Arimura, G. Sobue, S. Yagihashi, T. Yamamura, S. Ikeda, M. Nakagawa, S. Kusunoki, K. Inoue, K. Hayasaka, K. Matsumura, Y. Ando, M. Baba, M. Nakazato, H. Yasuda, R. Kaji, O. Onodera, J. Kira, S. Kuwabara, K. Arimura, G. Sobue

Journal of Neurology, Neurosurgery and Psychiatry 79 ( 9 ) 1040 - 1043 2008年9月

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families 査読

K. Hara, A. Shiga, H. Nozaki, J. Mitsui, Y. Takahashi, H. Ishiguro, H. Yomono, H. Kurisaki, J. Goto, T. Ikeuchi, S. Tsuji, M. Nishizawa, O. Onodera

NEUROLOGY 71 ( 8 ) 547 - 551 2008年8月

Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions 査読

Yasushi Nishihira, Chun-Feng Tan, Osamu Onodera, Yasuko Toyoshima, Mitsunori Yamada, Takashi Morita, Masatoyo Nishizawa, Akiyoshi Kakita, Hitoshi Takahashi

ACTA NEUROPATHOLOGICA 116 ( 2 ) 169 - 182 2008年8月

Sporadic ataxias in Japan - a population-based epidemiological study 査読

Shoji Tsuji, Osamu Onodera, Jun Goto, Masatoyo Nishizawa

CEREBELLUM 7 ( 2 ) 189 - 197 2008年6月

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia 査読

Takeshi Ikeuchi, Akiyoshi Kakita, Atsushi Shiga, Kensaku Kasuga, Hiryoyuki Kaneko, Chun-Feng Tan, Jiro Idezuka, Koichi Wakabayashi, Osamu Onodera, Takeshi Iwatsubo, Masatoyo Nishizawa, Hitoshi Takahashi, Atsushi Ishikawa

ARCHIVES OF NEUROLOGY 65 ( 4 ) 514 - 519 2008年4月

The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia) 査読

N. R. Maksimova, I. A. Nikolaeva, M. N. Korotov, T. Ikeuchi, O. Onodera, M. Nishizawa, S. K. Stepanova, Kh. A. Kurtanov, A. L. Sukhomyasova, A. N. Nogovitcina, E. E. Gurinova, V. A. Stepanov, V. P. Puzyrev

ZHURNAL NEVROLOGII I PSIKHIATRII IMENI S S KORSAKOVA 108 ( 6 ) 52 - 60 2008年

Mutational analysis in early-onset familial dementia in the Japanese population 査読

Takeshi Ikeuchi, Hiroyuki Kaneko, Akinori Miyashita, Hiroaki Nozaki, Kensaku Kasuga, Tamao Tsukie, Miyuki Tsuchiya, Toru Imamura, Hideki Ishizu, Kenju Aoki, Atsushi Ishikawa, Osamu Onodera, Ryozo Kuwano, Masatoyo Nishizawa

DEMENTIA AND GERIATRIC COGNITIVE DISORDERS 26 ( 1 ) 43 - 49 2008年

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families 査読

Hiroaki Nozaki, Kenju Hara, Atsushi Shiga, Jun Mitsui, Yuuji Takahashi, Hideaki Ishiguro, Harumi Shimono, Hiroshi Kurisaki, Jun Goto, Takeshi Ikeuchi, Shouji Tsuji, Masatoyo Nishizawa, Osamu Onodera

NEUROSCIENCE RESEARCH 61 S206 - S206 2008年

TDP-43 mutation in familial amyotrophic lateral sclerosis 査読

Akio Yokoseki, Atsushi Shiga, Chun Feng Tan, Asako Tagawa, Hiroyuki Kaneko, Akihide Koyama, Hiroto Eguchi, Akira Tsujino, Takeshi Ikeuchi, Akiyoshi Kakita, Koichi Okamoto, Masatoyo Nishizawa, Hitoshi Takahashi, Osamu Onodera

NEUROSCIENCE RESEARCH 61 S267 - S267 2008年

Contribution of APP duplication as a cause in a cohort of Japanese Alzheimer disease patients 査読

Kensaku Kasuga, Atsushi Shiga, Takayoshi Shimohata, Osamu Onodera, Masatoyo Nishizawa, Takeshi Ikeuchi

NEUROSCIENCE RESEARCH 61 S264 - S264 2008年

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia 査読

N. Maksimova, K. Hara, A. Miyashia, I. Nikolaeva, A. Shiga, A. Nogovicina, A. Sukhomyasova, V. Argunov, A. Shvedova, T. Ikeuchi, M. Nishizawa, R. Kuwano, O. Onodera

JOURNAL OF MEDICAL GENETICS 44 ( 12 ) 772 - 778 2007年12月

Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 Delta T440 mutant associated with familial Lewy body disease and variant Alzheimer's disease 査読

Hiroyuki Kaneko, Akiyoshi Kakita, Kensaku Kasuga, Hiroaki Nozaki, Atsushi Ishikawa, Akinori Miyashita, Ryozo Kuwano, Genta Ito, Takeshi Iwatsubo, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera, Sangram S. Sisodia, Takeshi Ikeuchi

JOURNAL OF NEUROSCIENCE 27 ( 48 ) 13092 - 13097 2007年11月

Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. 査読国際誌

Takayoshi Shimohata, Kenju Hara, Kazuhiro Sanpei, Jin-ichi Nunomura, Tetsuya Maeda, Izumi Kawachi, Masato Kanazawa, Kensaku Kasuga, Akinori Miyashita, Ryozo Kuwano, Koichi Hirota, Shoji Tsuji, Osamu Onodera, Masatoyo Nishizawa, Yoshiaki Honma

Brain : a journal of neurology 130 ( Pt 9 ) 2302 - 9 2007年9月

Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3. 査読国際誌

Brain : a journal of neurology 130 ( Pt 9 ) 2302 - 9 2007年9月

記述言語：英語

Autosomal dominant choreas are genetically heterogeneous disorders including Huntington disease (HD), Huntington disease like 1 (HDL1), Huntington disease like 2 (HDL2), dentatorubro-pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 17 (SCA17) and benign hereditary chorea (BHC). We identified two Japanese families with adult-onset benign chorea without dementia inherited in an autosomal dominant pattern. All affected individuals presented slowly progressive choreic movements in their upper and lower extremities, trunk and head with an age of onset ranging from 40 to 66 (average 54.3), which were markedly improved by haloperidol. The affected individuals also developed reduced muscle tones in their extremities. The findings obtained in the brain CT or MRI studies of nine affected individuals were normal. These clinical features resemble those of the so-called 'senile chorea'. HD, HDL1, HDL2, DRPLA, SCA17 and BHC caused by mutations in the TITF-1 gene were excluded by mutational and linkage analyses. A genome-wide linkage analysis revealed linkage to chromosome 8q21.3-q23.3 with a maximum cumulative two-point log of the odds (LOD) score of 4.74 at D8S1784 (theta = 0.00). Haplotype analysis of both the families defined the candidate region as 21.5 Mb interval flanked by M9267 and D8S1139. We named this adult-onset dominant inherited chorea 'benign hereditary chorea type 2 (BHC2)'.

DOI： 10.1093/brain/awm036

PubMed

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Generation of intracellular domain of insulin receptor tyrosine kinase by gamma-secretase 査読

K. Kasuga, H. Kaneko, M. Nishizawa, O. Onodera, T. Ikeuchi

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 360 ( 1 ) 90 - 96 2007年8月

Sacsin-related ataxia with neither retinal hypermyelination nor spasticity 査読

Kenju Hara, Junsuke Shimbo, Hiroaki Nozaki, Koki Kiku-Awa, Osamu Onodera, Masatoyo Nishizawa

MOVEMENT DISORDERS 22 ( 9 ) 1362 - 1363 2007年7月

Daytime hypoxemia, sleep-disordered breathing, and laryngopharyngeal findings in multiple system atrophy 査読

Takayoshi Shimohata, Hideo Shinoda, Hideaki Nakayama, Tetsutaro Ozawa, Kenshi Terajima, Hirohisa Yoshizawa, Yoko Matsuzawa, Osamu Onodera, Satoshi Naruse, Keiko Tanaka, Sugata Takahashi, Fumitake Gejyo, Masatoyo Nishizawa

ARCHIVES OF NEUROLOGY 64 ( 6 ) 856 - 861 2007年6月

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