Patent ID: 8753818
Filing Date: 2014-06-17
Classification: C12Q

Abstract:
1. A method of identifying an individual that has amyotrophic lateral sclerosis (ALS), or is at risk of developing ALS, comprising: a) selectively sequencing a profilin 1 (PFN1) gene sequence in a sample of an individual in need thereof; and b) detecting one or more alterations in the PFN1 gene sequence of the individual compared to a wild type PFN1 gene sequence, wherein the one or more alterations results in the PFN1 gene sequence encoding a PFN1 protein having a C71G alteration, a M114T alteration, a G118V alteration, an E117G alteration or a combination thereof, wherein if the one or more alterations are detected then the individual has ALS.