Publications [#131968] of James M Provenzale

Papers Published

1. EP Ahearn, MC Speer, YT Chen, DC Steffens, F Cassidy, S Van Meter, JM Provenzale, RH Weisler, KR Krishnan, Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype., American journal of medical genetics, vol. 114 no. 6 (August, 2002), pp. 652-8, ISSN 0148-7299 [doi]
   (last updated on 2011/07/12)

   Abstract:
   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.

   Keywords:
   Adolescent • Adult • Age of Onset • Aged • Bipolar Disorder • Brain • Female • Genetic Linkage • Humans • Lod Score • Magnetic Resonance Imaging • Male • Middle Aged • Models, Genetic • Pedigree • Polymorphism, Single-Stranded Conformational • Proto-Oncogene Proteins • Receptors, Cell Surface* • Receptors, Notch • diagnosis • genetics* • pathology*