title: Progressive anomia revisited: focal degeneration associated with progranulin gene mutation.
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.
authors.affiliation: School of Translational Medicine, University of Manchester, Hope Hospital, Salford, UK. julie.snowden@manchester.ac.uk
authors.forename: Julie S
authors.initials: JS
authors.lastname: Snowden
authors.forename: Stuart M
authors.initials: SM
authors.lastname: Pickering-Brown
authors.forename: Daniel
authors.initials: D
authors.lastname: Du Plessis
authors.forename: Ian R A
authors.initials: IR
authors.lastname: Mackenzie
authors.forename: Anoop
authors.initials: A
authors.lastname: Varma
authors.forename: David M A
authors.initials: DM
authors.lastname: Mann
authors.forename: David
authors.initials: D
authors.lastname: Neary
mesh_terms: D000368:Aged; D000849:Anomia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001072:Apraxias / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001284:Atrophy; D054022:Cerebrum / Q000473:pathology; D017809:Fatal Outcome; D007839:Functional Laterality; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D009410:Nerve Degeneration / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000077153:Progranulins
chemical_list: C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; D000077153:Progranulins