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Neurocase 2007-Oct

Progressive anomia revisited: focal degeneration associated with progranulin gene mutation.

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Julie S Snowden
Stuart M Pickering-Brown
Daniel Du Plessis
Ian R A Mackenzie
Anoop Varma
David M A Mann
David Neary

Keywords

Abstract

In 2003 we reported a case study of a patient, Newton who presented with a progressive circumscribed anomia in association with focal left hemisphere atrophy. Remarkably, he could spell aloud the names of objects that he could not name, indicating dissociated access to phonology and orthography. We now present follow-up clinical data, post-mortem histopathological findings, and results of molecular genetic analysis. Newton showed tau-negative ubiquitin-positive histology consistent with frontotemporal lobar degeneration (FTLD) and a mutation in the progranulin (PGRN) gene. The case exemplifies the heterogeneity of clinical expression of FTLD and contributes to understanding of primary progressive aphasia.

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