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ID 101794
タイトルヨミ
セキズイ ショウノウ ヘンセイショウ ノ イデンシ イジョウ
タイトル別表記
Genetic abnormalities in spinocerebellar degeration
著者
和泉, 唯信 徳島大学大学院ヘルスバイオサイエンス研究部感覚情報医学講座神経情報医学分野 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
SCD
SCA
CAG
Ca channel
資料タイプ
学術雑誌論文
抄録
Spinocerebellar degeration (SCD) is a neurogenerative disorder. The cardinal signs of SCD include cerebellar and spinal ataxia, extrapyramidal signs, dysautonomia, pyramidal signs, mental signs, involuntary movement. In Japan, about 30% of SCA cases are hereditary in nature. Recently, several forms of inherited SCD have been reported, and can be devided into four groups, three of which show autosomal dominant inheritance. Group Ⅰ : This group is caused by expansion of CAG repeats encoding polyglutamine streches, and includes SCA1,2,3 (Machado-Joseph disease), SCA7,SCA12,dentatorubral-pallidoluysian atrophy. The number of CAG repeats correlates with the age at onset and severity of symptoms. The expanded CAG repeats become unstable during parent-offspring transmission. Group Ⅱ SCA6):This is caused by a mutation involving mild expansion of CAG repeats in the gene encoding the voltage-dependent Ca channel alpha1A subunit (CACNA1 A). The pathogenic CAG repeats are fewer than in Group I and stable during parent-offspring transmission. Group Ⅲ : This group is not caused by expansion of CAG repeats, and includes SCA8 (CTG expansion), SCA10 (ATTCT expansion), and SCA14 (point mutation). Group Ⅳ : This group shows sutosomal recessive inheritance, and includes Freidreich’s ataxia, early-onset ataxia with ocular motor apraxia and hypoalbuminemia, and ataxia with isolated vitamin E deficiency.
掲載誌名
四国医学雑誌
ISSN
00373699
cat書誌ID
AN00102041
出版者
徳島医学会
61
1-2
開始ページ
21
終了ページ
24
並び順
21
発行日
2005-04-25
備考
フルテキストファイル
言語
jpn
部局
医学系