Abstract
Background: Progranulin (PGRN) is a multifunctional growth factor that is found in many tissues. Mutations in the PGRN gene cause familial frontotemporal dementia with ubiquitin-positive inclusions. PGRN plaque-like structures have been described in Alzheimer’s disease (AD), in association with β-amyloid (Aβ) plaques. Objective: To investigate PGRN and aggregated Aβ immunolabeling distribution in autopsied brain tissue from the participant with confirmed PS-1 (A246E) mutation, who died prior to clinical symptom onset. Results: Immunolabeling for PGRN was positive and accumulated/formed plaque-like structures in all studied regions. These structures most frequently colocalized with Aβ though there were some that did not. PGRN plaques were most dense in medial temporal and frontal regions and predominated over aggregated Aβ. Conclusions: This case report illustrates PGRN accumulation and Aβ aggregation in preclinical PS-1 AD case and raises the question whether this phenomenon coincides with or precedes Aβ aggregation.
