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Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling

 

作者: Allan B. Burdick,   Lester A. Owens,   Charles R. Peterson,  

 

期刊: Clinical Genetics  （WILEY Available online 1981）
卷期: Volume 19, issue 1  

页码: 1-7

 

ISSN:0009-9163

 

年代: 1981

 

DOI:10.1111/j.1399-0004.1981.tb00659.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Autosomal dominant;recurrence risks;reduced penetrance;spastic paraplegia;variable expressivity

 

数据来源: WILEY

 

摘要:

We have examined a pedigree in which familial spastic paraplegia (FSP) is segregating in four generations. The data show a high rate of transmission of the trait, late onset, reduced penetrance, variable age and symptom expressivity, and an autosomal dominant mode of transmission. A summary of our data together with the FSP data of others shows a 1:1 transmission from males and from females, and an overall 1:1 transmission ratio. The risks for the children of symptomatic and non‐symptomatic parents are illustrate

 

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