Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease, 
which causes progressive and eventually fatal loss of motor function. Here, we 
describe genetic and pathologic characterization of brain tissue banked from 19 
ALS patients over nearly 20 years at the Department of Anatomy and the Centre 
for Brain Research, University of Auckland, New Zealand. We screened for 
mutations in SOD1, TARDBP, FUS, and C9ORF72 genes and for neuropathology caused 
by phosphorylated TDP-43, dipeptide repeats (DPRs), and ubiquilin. We identified 
2 cases with C9ORF72 repeat expansions. Both harbored phosphorylated TDP-43 and 
DPR inclusions. We show that DPR inclusions can incorporate or occur 
independently of ubiquilin. We also identified 1 case with a UBQLN2 mutation, 
which showed phosphorylated TDP-43 and characteristic ubiquilin protein 
inclusions. This is the first study of ALS genetics in New Zealand, adding New 
Zealand to the growing list of countries in which C9ORF72 repeat expansion and 
UBQLN2 mutations are detected in ALS cases.