The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on <i>C9orf72</i> RE: Clinical Heterogeneity and Oligogenic Inheritance

Abstract

We showed that the original Italian pedigree described with FTD/ALS carries the C9orf72 RE. Moreover, the finding of an additional mutation in another dementia causing gene in a patient with a more complex phenotype suggests a possible role of genetic modifiers in the disease. Together with other reports showing the coexistence of mutations in multiple ALS/FTD causative genes in the same family, our study supports an oligogenic etiology of ALS/FTD.