Plasma metabolomics of presymptomatic PSEN1-H163Y mutation carriers: a pilot study.

Karthick NatarajanAbbe UllgrenBehzad KhoshnoodCharlotte JohanssonJosé M Laffita-MesaJosef PanneeHenrik ZetterbergKaj BlennowCaroline Graff

Published in: Annals of clinical and translational neurology (2021)

This study finds dysregulated metabolite classes, which are changed before the disease symptom onset. Also, it provides an opportunity to compare with sporadic Alzheimer's Disease. Observed findings in this study need to be validated in a larger and independent Familial Alzheimer's Disease (FAD) cohort.

Keyphrases

early onset
cognitive decline
late onset
amyotrophic lateral sclerosis