HIGHLIGHTS
SUMMARY
Characteristically, pedigrees in which the mutated allele of C9orf72 segregated from one generation to another, showed different affected phenotypes, ranging from amyotrophic lateral sclerosis (ALS) to frontotemporal dementia (FTD) sometimes with peculiar features (DeJesus-Hernandez et_al, 2011; Renton et_al, 2011). This happens because about one in three patients shows an atypical presentation at onset, these different presentations often mime other neurodegenerative disorders (i.e. Frontotemporal dementia has a prevalence of 1-461:100,000. Among all FTD patients, a percentage of about 4%-29% carry an HRE C9orf72 (Hogan et_al, 2016; Van Mossevelde et_al . . .
If you want to have access to all the content you need to log in!
Thanks :)
If you don't have an account, you can create one here.