Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances".
Cinzia CoppolaDario SaracinoMariano OlivaLorenzo CiprianoGianfranco PuotiSabina PappatàGiuseppe Di FedeMarcella CataniaMartina RicciSara CiminiGiorgio GiacconeSimona BonavitaGiacomina RossiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)
This work underlines the difficulties in reaching a confident in vivo diagnosis in cases of atypical dementia. Moreover, a wider genetic analysis by NGS approach may prove to be useful in specific cases, especially when the study of the so-far known AD causative genes produces negative or conflicting results.