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ID 34789
file
creator
Sugihara, Katsunobu
Kamada, Masaki
subject
ALS
amyotrophic lateral sclerosis
Polymorphism
Optineurin
OPTN
NDC
Medical sciences
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.
journal title
Neurobiology of Aging
volume
Volume 32
issue
Issue 10
start page
1923.e9
end page
1923.e10
date of issued
2011
publisher
Elsevier Science Inc
issn
0197-4580
ncid
publisher doi
language
eng
nii type
Journal Article
HU type
Journal Articles
DCMI type
text
format
application/pdf
text version
author
rights
(c) 2011 Elsevier Inc. All rights reserved.
relation url
department
Research Institute for Radiation Biology and Medicine