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齿状核红核苍白球路易体萎缩症（DRPLA）家系中（CAG）n重复序列数目与发病年龄的关系：确诊及预测性检测的诊断意义

The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.

作者信息

Potter N T

机构信息

Developmental and Genetic Center, The University of Tennessee Medical Center, Knoxville, TN 37920, USA.

出版信息

J Med Genet. 1996 Feb;33(2):168-70. doi: 10.1136/jmg.33.2.168.

DOI:10.1136/jmg.33.2.168
PMID:8929958
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051847/
Abstract

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterised by variability in both age of onset and clinical features. Despite the recent identification of the CAG expansion mutation in DRPLA, the number of molecularly confirmed cases remains small. Given its rarity and prominent phenotypic heterogeneity, some care needs to be exercised in the interpretation and dissemination of test results derived from direct gene testing for the DRPLA specific expansion mutation.

摘要

齿状核红核苍白球路易体萎缩症（DRPLA）是一种罕见的神经退行性疾病，其发病年龄和临床特征均具有变异性。尽管最近已鉴定出DRPLA中的CAG重复扩增突变，但经分子学确诊的病例数量仍然很少。鉴于其罕见性和显著的表型异质性，在解释和传播源自针对DRPLA特异性重复扩增突变的直接基因检测的结果时需要谨慎。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd91/1051847/c10394787459/jmedgene00256-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd91/1051847/c10394787459/jmedgene00256-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dd91/1051847/c10394787459/jmedgene00256-0081-a.jpg

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1
The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.齿状核红核苍白球路易体萎缩症（DRPLA）家系中（CAG）n重复序列数目与发病年龄的关系：确诊及预测性检测的诊断意义
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引用本文的文献

1
Clinical aspects of CAG repeat diseases.CAG重复序列疾病的临床方面。
Brain Pathol. 1997 Jul;7(3):881-900. doi: 10.1111/j.1750-3639.1997.tb00892.x.

本文引用的文献

1
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).遗传性齿状核红核苍白球路易体萎缩（DRPLA）中CAG重复序列的不稳定扩增。
Nat Genet. 1994 Jan;6(1):9-13. doi: 10.1038/ng0194-9.
2
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.齿状核红核苍白球路易体萎缩症：12号染色体短臂上不稳定的CAG三核苷酸重复序列扩增。
Nat Genet. 1994 Jan;6(1):14-8. doi: 10.1038/ng0194-14.
3
Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom.英国的常染色体显性遗传性齿状核红核苍白球路易体萎缩症
Mov Disord. 1994 May;9(3):289-96. doi: 10.1002/mds.870090302.
4
DRPLA in Europe.
Nat Genet. 1994 Mar;6(3):225. doi: 10.1038/ng0394-225a.
5
B37 repeats are normal in most schizophrenic patients.
Br J Psychiatry. 1994 Jun;164(6):851-2. doi: 10.1192/bjp.164.6.851.
6
The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.霍河综合征：一个非裔美国家庭中的齿状核红核苍白球路易体萎缩症（DRPLA）
Nat Genet. 1994 Aug;7(4):521-4. doi: 10.1038/ng0894-521.
7
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.
Hum Genet. 1995 Mar;95(3):313-8. doi: 10.1007/BF00225200.
8
Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.
Ann Neurol. 1995 Feb;37(2):273-7. doi: 10.1002/ana.410370220.
9
Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).导致三联体重复疾病——齿状核红核苍白球路易体萎缩症（DRPLA）的基因的结构与表达
Nat Genet. 1994 Oct;8(2):177-82. doi: 10.1038/ng1094-177.
10
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.遗传性齿状核红核苍白球路易体萎缩症的DNA分析：CAG重复序列长度与表型变异的相关性及遗传早现的分子基础
Neurology. 1995 Jan;45(1):143-9. doi: 10.1212/wnl.45.1.143.