Title

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.

Document Type

Article

Publication Date

7-13-2018

Publication Title

Elife

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of a disease spectrum with shared clinical, genetic and pathological features. These include near ubiquitous pathological inclusions of the RNA-binding protein (RBP) TDP-43, and often the presence of a GGGGCC expansion in the

Medical Subject Headings

Amyotrophic Lateral Sclerosis; Brain; C9orf72 Protein; DNA-Binding Proteins; Frontotemporal Dementia; Heterogeneous-Nuclear Ribonucleoproteins; Humans; Mutagenesis, Insertional; Polypyrimidine Tract-Binding Protein; RNA Splicing

PubMed ID

30003873

Volume

7

First Page

e37754

Share

COinS