Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.


OBJECTIVE To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)-related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations. DESIGN Population-based, prospective cohort study. PATIENTS A total of 135 Sardinian patients with ALS and 156 healthy… (More)
DOI: 10.1001/archneurol.2010.352


2 Figures and Tables