ID 101794
Title Transcription
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
Title Alternative
Genetic abnormalities in spinocerebellar degeration
Author
Izumi, Yuishin Department of Clinical Neurology, Institute of Health Biosciences, The University of Tokushima Graduate School Tokushima University Educator and Researcher Directory KAKEN Search Researchers
Keywords
SCD
SCA
CAG
Ca channel
Content Type
Journal Article
Description
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.
Journal Title
四国医学雑誌
ISSN
00373699
NCID
AN00102041
Publisher
徳島医学会
Volume
61
Issue
1-2
Start Page
21
End Page
24
Sort Key
21
Published Date
2005-04-25
Remark
FullText File
language
jpn
departments
Medical Sciences