Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations

Jennifer L. Whitwell, Clifford R. Jack, Matthew Baker, Rosa Rademakers, Jennifer Adamson, Bradley F. Boeve, David S. Knopman, Joseph F. Parisi, Ronald C. Petersen, Dennis W. Dickson, Michael L. Hutton, Keith A. Josephs

Research output: Contribution to journalArticlepeer-review

70 Scopus citations

Abstract

Background: Mutations in the progranulin gene (PGRN) have recently been identified as a cause of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) in some families. Objective: To determine whether there is a difference in the patterns of atrophy in FTLD-U cases with and without PGRN mutations. Design: Case-control study. Setting: Brain bank of a tertiary care medical center. Patients: Eight subjects who had screened positive for PGRN mutations (PGRN-positive) and who underwent volumetric magnetic resonance imaging were identified. Subjects were then matched by clinical diagnosis to a group of 8 subjects with a pathological diagnosis of FTLD-U who had screened negative for PGRN mutations (PGRN-negative). All subjects were then age-matched and sex-matched to a control subject. Main Outcome Measures: Voxel-based morphometry was used to assess the patterns of gray matter atrophy in thePGRN-positive group compared with thePGRN-negative group and compared with controls. Results: The PGRN-positive group showed a widespread and severe pattern of gray matter loss predominantly affecting the frontal, temporal, and parietal lobes. The PGRN-negative group showed a less severe pattern of gray matter loss restricted mainly to the temporal and frontal lobes. On direct comparison, the PGRN-positive group showed greater gray matter loss in the frontal and parietal lobes compared with the PGRN-negative group. Conclusion: Findings from this study suggest that PGRN mutations may be associated with a specific and severe pattern of cerebral atrophy in subjects with FTLD-U.

Original languageEnglish (US)
Pages (from-to)371-376
Number of pages6
JournalArchives of neurology
Volume64
Issue number3
DOIs
StatePublished - Mar 2007

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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