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• W2129594328 abstract "Patients with frontotemporal dementia due to mutation of progranulin may have a distinct phenotype.To identify distinct clinical and pathologic features of patients with frontotemporal dementia who have mutations of progranulin (GRN).Retrospective clinical-pathologic study.Academic medical center.Twenty-eight patients with frontotemporal dementia, including 9 with GRN mutations (4 autopsy cases and 5 with only clinical information) and 19 with the identical pathologic diagnosis--frontotemporal lobar degeneration with ubiquitin-positive and tau-negative inclusions (FTLD-U)--and no GRN mutations.Demographic, symptom, neuropsychological, and autopsy characteristics.Patients with and without a GRN mutation have similar demographic features, although family history is significantly more common in patients with frontotemporal dementia and a GRN mutation. Both patient groups have frequent social and personality complaints. Neuropsychological evaluation reveals a significant recognition memory deficit in patients with a GRN mutation but a significant language deficit only in patients without a GRN mutation. At autopsy, the semiquantitative burden of ubiquitin abnormality is relatively modest in both groups of patients.Patients with a GRN mutation differ clinically from those with the same pathologic diagnosis but no GRN mutation." @default.
• W2129594328 created "2016-06-24" @default.
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• W2129594328 date "2007-08-01" @default.
• W2129594328 modified "2023-10-18" @default.
• W2129594328 title "Clinical, Genetic, and Pathologic Characteristics of Patients With Frontotemporal Dementia and Progranulin Mutations" @default.
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• W2129594328 doi "https://doi.org/10.1001/archneur.64.8.1148" @default.
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