Authors
Alexander J Cammack, Nazem Atassi, Theodore Hyman, Leonard H Van Den Berg, Matthew Harms, Robert H Baloh, Robert H Brown, Michael A Van Es, Jan H Veldink, Balint S De Vries, Jeffrey D Rothstein, Caroline Drain, Jennifer Jockel-Balsarotti, Amber Malcolm, Sonia Boodram, Amber Salter, Nicholas Wightman, Hong Yu, Alexander V Sherman, Thomas J Esparza, Diane McKenna-Yasek, Margaret A Owegi, Catherine Douthwright, Alzheimer's Disease Neuroimaging Initiative, Alexander McCampbell, Toby Ferguson, Carlos Cruchaga, Merit Cudkowicz, Timothy M Miller
Publication date
2019/10/22
Journal
Neurology
Volume
93
Issue
17
Pages
e1605-e1617
Publisher
Lippincott Williams & Wilkins
Description
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 symptomatic prospective cohort was 57.9 ± 8.3 years, and median duration of survival after onset was 36.9 months. The monthly change was −1.8 ± 1 …
Scholar articles
AJ Cammack, N Atassi, T Hyman, LH Van Den Berg… - Neurology, 2019