Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation

Recently, DNAJC7 was found to be associated with amyotrophic lateral sclerosis (ALS) in a single large-scale exome sequencing study.(1) Multiple protein-truncating variants were detected in individuals with ALS that were absent in control subjects.(1)DNAJC7 encodes a member of the DnaJ heat-shock protein family (HspP40), which functions in protein homeostasis, including protein folding and degradation.(2) To validate the pathogenic role of DNAJC7 in ALS and further understand the relevant clinical features, we screened a Taiwanese ALS cohort for DNAJC7 mutations.