Pathogenic genetic variants of GRN, C9orf72 and TARDBP and primary progressive aphasia

Takeaway

  • Genetic variants of GRN, C9orf72 and TARDBP in patients with primary progressive aphasia (PPA) indicate PPA is likely to be related to TDP43 dysfunction.

Why this matters ?

    The contribution of genetic variants to distinct forms of PPA as well as mechanisms underlying disease progression remain to be fully understood.