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一例来自阿萨姆邦某部落的脊髓小脑共济失调病例。

A case of Spinocerebellar Ataxia from ethnic tribe of Assam.

作者信息

Kayal Ashok K, Goswami Munindra, Das Marami, Masaraf Hussain

机构信息

Department of Neurology, Gauhati Medical College, Bhangagarh, Guwahati, Assam.

出版信息

Ann Indian Acad Neurol. 2011 Apr;14(2):122-3. doi: 10.4103/0972-2327.82802.

DOI:10.4103/0972-2327.82802
PMID:21808476
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3141476/
Abstract

Here we present the case of a 17-year-old girl belonging to an ethnic tribe (Bodo tribe) of Assam, presenting with bilateral cerebellar signs and with history suggestive of an autosomal dominant pattern of inheritance, who was found to have spinocerebellar ataxia 7 on genetic testing. This case throws light on the probability of more such cases in the multi-ethnic society of the North-Eastern Indian states, which are not studied or reported till date.

摘要

在此,我们报告一例17岁女孩的病例,她属于阿萨姆邦的一个民族部落(博多部落),出现双侧小脑体征,并有提示常染色体显性遗传模式的病史,基因检测发现其患有7型脊髓小脑共济失调。该病例揭示了在印度东北部各邦的多民族社会中可能存在更多此类未被研究或报道过的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/590c/3141476/c5d51234da4c/AIAN-14-122-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/590c/3141476/c5d51234da4c/AIAN-14-122-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/590c/3141476/c5d51234da4c/AIAN-14-122-g001.jpg

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An update on Spino-cerebellar ataxias.脊髓小脑共济失调的最新进展。

本文引用的文献

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Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family.脊髓小脑共济失调7型基因座的合子后新生三核苷酸重复扩增:来自一个印度家庭的证据。
J Hum Genet. 2005;50(3):155-157. doi: 10.1007/s10038-005-0233-0. Epub 2005 Mar 5.
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Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state.西孟加拉邦(印度东部一邦)孟加拉族中的常染色体显性遗传性小脑共济失调
Acta Neurol Scand. 2002 Mar;105(3):202-8. doi: 10.1034/j.1600-0404.2002.1o054.x.
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Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia.
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Eur J Hum Genet. 2000 Dec;8(12):918-22. doi: 10.1038/sj.ejhg.5200557.
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