Aarhus University Seal / Aarhus Universitets segl

Brain cortical thickness in an FTD3 patient and mutation carriers

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperConference abstract in journalResearchpeer-review

  • Peter Johannsen
  • ,
  • Simon Fristed Eskildsen
  • Jørgen Nielsen
  • ,
  • Elizabeth Fisher
  • ,
  • Dora Zeidler
  • ,
  • Anders Rodell
  • ,
  • Leif Østergaard
Background: Frontotemporal dementia linked to chromosome 3 (FTD3) (1) is caused by mutations in the CHMP2B gene in the endosomal ESCRT-III complex (2). Objective: To study changes of cortical thickness in structural neuroimaging MR data from a large Danish FTD3 family. Methods: One FTD3 patient and 15 asymptomatic 50% risk family members were scanned in a 3 Tesla GE-Excite scanner (FSPGR 3D sequence). The 50% risk persons were genetically tested for the mutation and the investigators involved in subject assessment were blinded to the mutational status. The patient (male, 60 yr, MMSE = 22) had the FTD3 diagnosis confirmed by direct sequencing of the CHMP2B gene, showing the pathogenic G-to-C transition in the acceptor splice site of exon 6. Eight of the 50% risk persons were carrying the mutation and 7 were non-carriers. Cortical thickness was calculated with an updated previously published method (3) where 3D non-parametric surfaces were iteratively fitted to the inner and outer boundary of the cortex. The method calculates the cortical thickness with sub-voxel accuracy at more than 150,000 vertices equally distributed over the cortical surface. The average cortical thickness in the frontal and temporal cortices for the patient, the pre-symptomatic mutation carriers and the first-degree no-mutation relatives are listed in the Table. Differences between those with and without the mutation had a trend but did not reach statistical significance (p=0.2, double-sided t-test). There was a highly statistical significant difference in cortical thickness between frontal and temporal cortices in both groups (p<0.009).

Conclusion: Cortical thickness is reduced in FTD3. Pre-symptomatic subjects with the FTD3 CHMP2B exon 6 G-to-C mutation tend to have lower cortical thickness in frontal and temporal cortices compared to FTD3 family members without the mutation.
Original languageEnglish
JournalAlzheimer's & Dementia
Pages (from-to)S15, No. O1-04-02
Publication statusPublished - Jul 2006
Externally publishedYes

See relations at Aarhus University Citationformats

ID: 49202945