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. 2007 Aug;64(8):1148-53.
doi: 10.1001/archneur.64.8.1148.

Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations

Vivianna M Van Deerlin  1 , Elisabeth McCarty Wood, Peachie Moore, Wuxing Yuan, Mark S Forman, Christopher M Clark, Manuela Neumann, Linda K Kwong, John Q Trojanowski, Virginia M-Y Lee, Murray Grossman
Affiliations

Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations

Vivianna M Van Deerlin et al. Arch Neurol. 2007 Aug.

Abstract

Background: Patients with frontotemporal dementia due to mutation of progranulin may have a distinct phenotype.

Objective: To identify distinct clinical and pathologic features of patients with frontotemporal dementia who have mutations of progranulin (GRN).

Design: Retrospective clinical-pathologic study.

Setting: Academic medical center.

Patients: 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.

Main outcome measures: Demographic, symptom, neuropsychological, and autopsy characteristics.

Results: 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.

Conclusion: Patients with a GRN mutation differ clinically from those with the same pathologic diagnosis but no GRN mutation.

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