Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.

ABSTRACT:

Objective

To define the natural history of the C9orf72 amyotrophic lateral sclerosis (C9ALS) patient population, develop disease biomarkers, and characterize patient pathologies.

Methods

We prospectively collected clinical and demographic data from 116 symptomatic C9ALS and 12 non-amyotrophic lateral sclerosis (ALS) full expansion carriers across 7 institutions in the United States and the Netherlands. In addition, we collected blood samples for DNA repeat size assessment, CSF samples for biomarker identification, and autopsy samples for dipeptide repeat protein (DPR) size determination. Finally, we collected retrospective clinical data via chart review from 208 individuals with C9ALS and 450 individuals with singleton ALS.

Results

The mean age at onset in the

SUBMITTER: Cammack AJ 

PROVIDER: S-EPMC6946465 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature