Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation

DISCUSSION: Our results strengthened previous suggestive evidence that the phenotypes associated with C9orf72 repeat expansion are variable and probably influenced by additional genetic modifiers. We hypothesized that the pathogenic variant in the SYP gene might have modified the typical phenotype associated with the C9orf72 mutation.PMID:34310040 | DOI:10.1002/alz.12409

Source: The Journal of Alzheimers Association - July 26, 2021 Category: Psychiatry Authors: Joana Prota Liara Rizzi Luciana Bonadia Leonardo Cruz de Souza Paulo Caramelli Rodrigo Secolin Iscia Lopes-Cendes Marcio L F Balthazar Source Type: research