Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
Neurobiology of Aging Volume 32 Issue 10
Page 1923.e9-1923.e10
published_at 2011
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| File | |
| Title ( eng ) |
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
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| Creator |
Sugihara Katsunobu
Kamada Masaki
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| Source Title |
Neurobiology of Aging
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| Volume | 32 |
| Issue | 10 |
| Start Page | 1923.e9 |
| End Page | 1923.e10 |
| Abstract |
Mutations in the optineurin (OPTN) gene cause amyotrophic lateral sclerosis (ALS). We previously reported 3 types of OPTN mutation in Japanese ALS subjects. Here, to identify the OPTN mutations in individuals of different ethnicity, we screened 563 sporadic ALS (SALS) subjects and 124 familial ALS (FALS) subjects who were mainly Caucasian. We found a c. 964T>C synonymous variation in exon 8. However, we could not find the meaningful OPTN mutations. The results indicate that OPTN mutations causing ALS are rare, especially in mainly Caucasian ALS subjects.
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| Keywords |
ALS
amyotrophic lateral sclerosis
Polymorphism
Optineurin
OPTN
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| NDC |
Medical sciences [ 490 ]
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| Language |
eng
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| Resource Type | journal article |
| Publisher |
Elsevier Science Inc
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| Date of Issued | 2011 |
| Rights |
(c) 2011 Elsevier Inc. All rights reserved.
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| Publish Type | Author’s Original |
| Access Rights | open access |
| Source Identifier |
[ISSN] 0197-4580
[DOI] 10.1016/j.neurobiolaging.2011.03.024
[NCID] AA10618297
[DOI] http://dx.doi.org/10.1016/j.neurobiolaging.2011.03.024
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