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印度中部一个大家庭中常染色体显性遗传性脊髓小脑共济失调1型的分析。

Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India.

作者信息

Sharma Shashikant, Singh Tekcham Dinesh, Poojary Satish S, Rohilla Manoj Singh, Singh Ajaypal, Lowalekar Kishore B, Tiwari Pramod Kumar

机构信息

Centre for Genomics, Jiwaji University, Gwalior, India.

出版信息

Indian J Hum Genet. 2012 Sep;18(3):299-304. doi: 10.4103/0971-6866.107981.

DOI:10.4103/0971-6866.107981
PMID:23716937
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3656518/
Abstract

BACKGROUND

Spinocerebeller ataxia type 1 (SCA1) is a specific type of ataxia among a group of inherited diseases of the central nervous system. In SCA1, genetic defects lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in the degeneration of the cerebellum, the coordination center of the brain. We investigated 24 members of an extended family in Gwalior city, India, some of which were earlier clinically diagnosed to be suffering from yet unconfirmed type of SCA neurodegenerative disorder.

MATERIALS AND METHODS

All the family members from each age group were screened clinically and the characteristics of those resembling with ataxia were recorded for diagnosis by MRI. The confirmed patients of the family were genetically tested by PCR based molecular testing to identify the type of SCA (i.e., SCA 1, 2, 3, 4, 6 or 7). Family tree of the disease inheritance was constructed by pedigree based method.

RESULT AND CONCLUSION

We found the clinical (symptoms and MRI) and genetic (Pedigree and PCR) results to be correlated. The PCR result revealed the disease to be of SCA 1 type being inherited in the family.

摘要

背景

1型脊髓小脑共济失调（SCA1）是一组中枢神经系统遗传性疾病中的一种特定类型的共济失调。在SCA1中，基因缺陷导致往返于大脑的特定神经纤维受损，从而导致小脑（大脑的协调中心）退化。我们对印度瓜廖尔市一个大家庭的24名成员进行了调查，其中一些成员早些时候临床诊断患有尚未确诊类型的SCA神经退行性疾病。

材料与方法

对每个年龄组的所有家庭成员进行临床筛查，并记录那些有共济失调症状者的特征，以便通过MRI进行诊断。通过基于PCR的分子检测对该家庭确诊的患者进行基因检测，以确定SCA的类型（即SCA 1、2、3、4、6或7）。采用基于系谱的方法构建疾病遗传谱系图。

结果与结论

我们发现临床（症状和MRI）和基因（谱系图和PCR）结果具有相关性。PCR结果显示该疾病为SCA 1型，在该家庭中呈遗传状态。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ca/3656518/1a75a227d330/IJHG-18-299-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ca/3656518/a1c18ffd9f1a/IJHG-18-299-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ca/3656518/045cadef04ff/IJHG-18-299-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ca/3656518/1a75a227d330/IJHG-18-299-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ca/3656518/a1c18ffd9f1a/IJHG-18-299-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ca/3656518/045cadef04ff/IJHG-18-299-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8ca/3656518/1a75a227d330/IJHG-18-299-g003.jpg

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SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India.
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