Cortical atrophy and language network reorganization associated with a novel progranulin mutation

Cereb Cortex. 2009 Aug;19(8):1751-60. doi: 10.1093/cercor/bhn202. Epub 2008 Nov 19.

Abstract

Progressive nonfluent aphasia (PNFA) is an early stage of frontotemporal degeneration. We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding. To identify early neurodegeneration changes, we performed neuropsychological and neuroimaging studies in 6 family members (MRI [magnetic resonance imaging], fMRI [functional MRI], and 18f-fluorodeoxygenlucose positron emission tomography, including 4 mutation carriers, and in 9 unrelated controls. Voxel-based morphometry (VBM) of the carriers compared with controls showed significant cortical atrophy in language areas. Grey matter loss was distributed mainly in frontal lobes, being more prominent on the left. Clusters were located in the superior frontal gyri, left inferior frontal gyrus, left middle frontal gyrus, left middle temporal gyri and left posterior parietal areas, concordant with (18)FDG-PET hypometabolic areas. fMRI during semantic and phonemic covert word generation (CWGTs) and word listening tasks (WLTs) showed recruitment of attentional and working memory networks in the carriers indicative of functional reorganization. During CWGTs, activation in left prefrontal cortex and bilateral anterior insulae was present whereas WLT recruited mesial prefrontal and anterior temporal cortex. These findings suggest that Cys521Tyr could be associated with early brain impairment not limited to language areas and compensated by recruitment of bilateral auxiliary cortical areas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aphasia, Primary Progressive / diagnostic imaging
  • Aphasia, Primary Progressive / genetics*
  • Aphasia, Primary Progressive / pathology*
  • Dementia / diagnostic imaging
  • Dementia / genetics
  • Dementia / pathology
  • Early Diagnosis
  • Frontal Lobe / diagnostic imaging
  • Frontal Lobe / pathology*
  • Humans
  • Image Processing, Computer-Assisted
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Language Tests
  • Magnetic Resonance Imaging
  • Mutation*
  • Neuropsychological Tests
  • Positron-Emission Tomography
  • Progranulins
  • Spain
  • Temporal Lobe / diagnostic imaging
  • Temporal Lobe / pathology*

Substances

  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • Progranulins