遺伝性オリーブ橋小脳萎縮症
WordNet
- a decrease in size of an organ caused by disease or disuse (同)wasting, wasting away
- undergo atrophy; "Muscles that are not used will atrophy"
- any weakening or degeneration (especially through lack of use) (同)withering
- relating to or associated with the cerebellum; "cerebellar artery"
PrepTutorEJDIC
- (栄養不良などによる)萎縮(いしゅく) / (一般的に)衰退,退化 / 萎縮する,衰退する / …'を'萎縮させる,衰退させる
- 世襲の,親譲りの / 遺伝的な,遺伝性の
UpToDate Contents
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English Journal
- Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
- Moghadam KK1, Pizza F2, La Morgia C2, Franceschini C3, Tonon C4, Lodi R4, Barboni P5, Seri M6, Ferrari S6, Liguori R2, Donadio V7, Parchi P2, Cornelio F8, Inzitari D9, Mignarri A10, Capocchi G11, Dotti MT10, Winkelmann J12, Lin L13, Mignot E13, Carelli V2, Plazzi G14.
- Brain : a journal of neurology.Brain.2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10.
- We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE)
- PMID 24727570
- Sporadic ataxias in Japan--a population-based epidemiological study.
- Tsuji S1, Onodera O, Goto J, Nishizawa M; Study Group on Ataxic Diseases.
- Cerebellum (London, England).Cerebellum.2008;7(2):189-97. doi: 10.1007/s12311-008-0028-x.
- Sporadic spinocerebellar ataxias (SCAs) comprise heterogeneous diseases with poorly understood epidemiologies and etiologies. A population-based epidemiological analysis of sporadic ataxias in the Japanese population was described. The prevalence rate of SCAs in the Japanese population is estimated
- PMID 18418674
- Selective, circuit-wide sparing of floccular connections in hereditary olivopontine cerebellar atrophy with slow saccades.
- Ying SH1, Horn AK, Geiner S, Wadia NH, Büttner-Ennever JA.
- Progress in brain research.Prog Brain Res.2008;171:583-6. doi: 10.1016/S0079-6123(08)00684-5.
- We present a systems-oriented histopathologic analysis of the ocular motor control circuits in the cerebellum and brainstem from a patient with a hereditary form of olivopontine cerebellar atrophy of the Wadia type, which has a characteristic ocular motor presentation of slow saccades but relative p
- PMID 18718358
Japanese Journal
- An autopsied Japanese case of hereditary olivo-ponto-cerebellar atrophy compatible with the original one of Menzel's report (1891)
- 脊髄小脳変性症患者の運動性構音障害に対するTRHの投与効果
- 野崎 康夫,橋本 正浩,大西 晃生,村井 由之,緒方 甫,牧嶋 和見
- 産業医科大学雑誌 14(2), 173-183, 1992-06-01
- 脊髄小脳変性症患者3名において前向きに, TRH(thyrotropin releasing hormone)の運動性構音障害に対する投与効果を, 各患者毎に聴覚印象評価, コミュニケーションに関する意識調査, 音声検査および音声分析結果に基づき評価し, さらに運動性構音障害の改善機序に検討を加えることを目的とした. 1名で運動性構音障害の著明な改善が自・他党的に認められ, 特に発声機能の改善と構 …
- NAID 110001259769
- Rebound Positional Nystagmus(河村正三教授開講10周年記念論文)
- 田中 幹夫
- 耳鼻咽喉科臨床 71(11), 1375-1386, 1978
- … These six cases included two of olivo-ponto-cerebellar atrophy, two of late cortical cerebellar atrophy, one of Menzel type of hereditary ataxia and one of with a tumor in the fourth ventricle.RPN is rarely seen in direction-changing positional nystagmus. …
- NAID 130001815383
Related Links
- Home > About Ataxia > Sporadic (non-hereditary) ataxia > Olivo-Ponto-Cerebellar Atrophy (OPCA) Olivo-Ponto-Cerebellar Atrophy (OPCA) This is a degenerative disease similar to Parkinson's disease but affects the cerebellum : : ...
- ... (LCCA) in Japan--compared with olivo-ponto-cerebellar atrophy (OPCA) and hereditary cortical cerebellar atrophy (HCCA)]. S Yanagimoto, T Takayanagi, K Hirayama, R Nakamura, N Yanagisawa [Familial olivo-ponto-cerebellar ...
★リンクテーブル★
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- 英
- hereditary olivo-ponto-cerebellar atrophy
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- 関
- heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited
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- 関
- cerebelli、cerebellum
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小脳萎縮、小脳萎縮症
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