A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I <i>ANG</i> MUTATION

Abstract

Approximately 90% of amyotrophic lateral sclerosis (ALS) cases are sporadic (SALS), but 10% are familial (FALS). Mutations in SOD1, Alsin, Dynactin, SETX, DJ-1, VAPB, and TDP-43 1 have been reported (table e-1 on the Neurology Web site at www.neurology.org). After the identification of sequence variation VEGF in patients with ALS, mutations in another angiogenic gene (ANG) were identified in SALS and FALS. 2,3 Studies in other populations have identified ANG mutations in patients with ALS, but also in healthy controls. This suggests that not all mutations are pathogenic. 3,