Ontology highlight
ABSTRACT:
SUBMITTER: Smith BN
PROVIDER: S-EPMC4357530 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Smith Bradley N BN Vance Caroline C Scotter Emma L EL Troakes Claire C Wong Chun Hao CH Topp Simon S Maekawa Satomi S King Andrew A Mitchell Jacqueline C JC Lund Karan K Al-Chalabi Ammar A Ticozzi Nicola N Silani Vincenzo V Sapp Peter P Brown Robert H RH Landers John E JE Al-Sarraj Safa S Shaw Christopher E CE
Neurobiology of aging 20141031 3
Mutations in the gene encoding profilin 1 (PFN1) have recently been shown to cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder. We sequenced the PFN1 gene in a cohort of ALS patients (n = 485) and detected 2 novel variants (A20T and Q139L), as well as 4 cases with the previously identified E117G rare variant (∼ 1.2%). A case-control meta-analysis of all published E117G ALS+/- frontotemporal dementia cases including those identified in this report was significant p = 0 ...[more]