書誌事項
- タイトル別名
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- Genetic abnormalities in spinocerebellar degeration
- 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
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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.
収録刊行物
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- 四国医学雑誌
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四国医学雑誌 61 (1-2), 21-24, 2005-04-25
徳島医学会
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詳細情報 詳細情報について
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- CRID
- 1050001338013041024
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- NII論文ID
- 40006794079
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- NII書誌ID
- AN00102041
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- ISSN
- 00373699
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- NDL書誌ID
- 7379407
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- 本文言語コード
- ja
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- 資料種別
- journal article
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- データソース種別
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- IRDB
- NDL
- CiNii Articles