Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India

被引：5

作者：

Vats, Abhishek ^{[1
,2
]}

Gourie-Devi, Mandaville ^{[3
,4
]}

Suroliya, Varun ^{[5
]}

Verma, Sagar ^{[1
]}

Faruq, Mohammad ^{[5
]}

Sharma, Ankkita ^{[3
]}

Ganguly, Nirmal Kumar ^{[1
]}

Kukreti, Ritushree ^{[5
]}

Wajid, Saima ^{[2
]}

Taneja, Vibha ^{[1
]}

机构：

[1] Sir Ganga Ram Hosp, Dept Res, Delhi 110060, India

[2] Jamia Hamdard, Dept Biotechnol, New Delhi 110062, India

[3] Sir Ganga Ram Hosp, Dept Neurophysiol, Delhi 110060, India

[4] Inst Human Behav & Allied Sci, Dept Neurol, New Delhi 110095, India

[5] CSIR, Inst Genom & Integrat Biol, Mall Rd, New Delhi 110007, India

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2017年 / 373卷

关键词：

C9orf72; Hexanucleotide repeat expansion; Amyotrophic lateral sclerosis; India; HEXANUCLEOTIDE REPEAT; DIAGNOSIS; CRITERIA;

D O I：

10.1016/j.jns.2016.11.079

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Pathogenic expansion of a hexanucleotide repeat in C9orf72 is associated with similar to 30% of familial ALS and similar to 7% of sporadic ALS patients amongst different populations. This repeat expansion was screened in 75 ALS patients and 115 healthy individuals from North India. On analysis by repeat-primed PCR, pathogenic expansion was not observed either in ALS patients or healthy controls. These observations are similar to the findings in most of the Asian populations. (C) 2016 Elsevier B.V. All rights reserved.

引用

页码：55 / 57

页数：3

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