Format

Send to

Choose Destination
Neurobiol Aging. 2011 Oct;32(10):1923.e9-10. doi: 10.1016/j.neurobiolaging.2011.03.024. Epub 2011 May 6.

Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population.

Author information

1
Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Minami-ku, Hiroshima, Japan.

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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center