Abstract
Clinical and pathological heterogeneity in patients with the p.C139R missense mutation in Progranulin
Highlights
Functional analyses were performed to determine the effect of p.C139R on growth factor progranulin (GRN) stability and secretion in a cell culture model
We identified three patients with the p.C139R missense mutation in our cohort, one patient with a clinical diagnosis of Frontotemporal lobar degeneration (FTLD), one with a pathological diagnosis of FTLD and one patient with a pathological diagnosis of Alzheimer’s disease (AD)
Western Blot analysis showed that expression of GRN p.C139R in cell culture after treatment with cylcohexamide resulted in more GRN in the pellet in the media compared to cells transfected with wildtype GRN
Summary
Frontotemporal lobar degeneration (FTLD) and Alzheimer’s disease (AD) are two of the most common forms of dementia. AD usually affects individuals over 85 years of age and clinically those individuals present with memory and cognitive deficits. FTLD typically affects individuals in their early 60s and clinically presents with speech impairment, behavioral and personality changes before any memory and cognitive deficits are noticed.
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