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Frontotemporal dementia (FTD) is a group of disorders with clinical, pathological, and genetic heterogeneity. Mutations in the gene for progranulin (PGRN) account for a substantial proportion of familial cases with tau-negative, ubiquitinated, TDP-43–positive inclusions (FTLD-U). These researchers sought the frequency of PGRN mutations in a clinically defined cohort of 78 independent patients with FTD (23 familial).
The researchers found only one mutation, a novel frame-shift mutation in the proband of a large, previously described FTD family (B-family). This mutation was not found within a separate case-control dataset from the same geographic region, including 96 unrelated FTD subjects (42 familial) and 109 healthy controls. The authors re…