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4)歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の臨床像(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)
http://hdl.handle.net/10191/42315
http://hdl.handle.net/10191/423151df89744-ce03-4374-a148-22dac6b2a3f2
名前 / ファイル | ライセンス | アクション |
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109(4)_174-179.pdf (1.1 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2016-06-27 | |||||
タイトル | ||||||
タイトル | 4)歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の臨床像(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会) | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | 4)歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)の臨床像(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会) | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | DRPLA | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | clinical features | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 歯状核赤核淡蒼球ルイ体萎縮症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 臨床像 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
その他のタイトル | ||||||
その他のタイトル | Clinical features of hereditary dentatorubral-pallidoluysian atrophy (DRPLA) (Pathophysiology of Hereditary Neurologic Diseases) | |||||
著者 |
内藤, 明彦
× 内藤, 明彦 |
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著者別名 | ||||||
識別子 | 116751 | |||||
識別子Scheme | WEKO | |||||
姓名 | Naito, Haruhiko | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Hereditary dentatorubralpallidoluysian atrophy (DRPLA) is a hereditary disease inherited as an autosomal dominant trait. This disorder is often encountered in Japan, but seems to be extremely rare outside Japan. DRPLA can display a wide variety of clinical symptoms including cerebellar ataxia, dementia and hypenkinetic involuntary movements such as chorea and choreoathetosis. The age of onset ranges from 6 to 69 years of age, the mean age being 31 years. There is a particular correlation between the age of onset and the clinical symptoms: Progressive myoclonus epilepsy syndrome is usual features of DRPLA patients with juvenile onset under 20 years of age (juvenile form), whereas those with onset in late adult life over 40 years of age (late adult form) have cerebellar ataxia and choreoathetosis often without myoclonus or epilepsy or either. There are various transitional forms between the juvenile form and the late adult form. This disease, although having the characteristic features of the dominant heredity, dementia and choreoathetosis, can be differentially diagnosed from Huntington chorea by the marked cerebellar ataxia, by CT findings suggesting atrophy of the brain stem and the cerebellum, and by the neuropathologic findings, i.e. the dentatorubral-pallidoluysian atrophy and lack of prominent atrophy of the striatum. | |||||
書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 109, 号 4, p. 174-179, 発行日 1995-04 |
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出版者 | ||||||
出版者 | 新潟医学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00290440 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00182415 | |||||
著者版フラグ | ||||||
値 | publisher |