Ontology highlight
ABSTRACT:
SUBMITTER: Williams KL
PROVIDER: S-EPMC4835537 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Nature communications 20160415
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquitinated protein aggregates, of which TDP-43 is a major component, are a characteristic pathological feature of most ALS and FTD patients. Here we use genome-wide linkage analysis in a large ALS/FTD kindred to identify a novel disease locus on chromosome 16p13.3. Whole-exome sequencing identified a CCN ...[more]