Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.

Journal Article (Journal Article)

The purpose of the study was to consider MRI hyperintensities as a potential endophenotype for bipolar disorder (BPD) and to investigate Notch3 (CADASIL) as a candidate gene for BPD. MRI scans were performed on 21 members of a family with a high incidence of BPD. Two-point and multipoint linkage analyses were performed and two exons of Notch3 were investigated with SSCP. Fifteen of 21 family members had MRI hyperintensities, including all bipolar patients and six family members with no affective illness. Two-point linkage analysis yielded negative results for all models. Multipoint linkage analysis yielded negative results except for Model 1a, in which a maximal LOD score was -1.24. A mutation screen of Exons 3 and 4 was negative. Notch3 does not appear to be a candidate gene for BPD in this family.

Full Text

Duke Authors

Cited Authors

  • Ahearn, EP; Speer, MC; Chen, YT; Steffens, DC; Cassidy, F; Van Meter, S; Provenzale, JM; Weisler, RH; Krishnan, KRR

Published Date

  • August 8, 2002

Published In

Volume / Issue

  • 114 / 6

Start / End Page

  • 652 - 658

PubMed ID

  • 12210282

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.10512


  • eng

Conference Location

  • United States