Publications [#277024] of Kathleen A. Welsh-Bohmer

Journal Articles

1. Carney, RM; Slifer, MA; Lin, PI; Gaskell, PC; Scott, WK; Potocky, CF; Hulette, CM; Welsh-Bohmer, KA; Schmechel, DE; Vance, JM; Pericak-Vance, MA (2008). Longitudinal follow-up of late-onset Alzheimer disease families.. Am J Med Genet B Neuropsychiatr Genet, 147B(5), 571-578. [18361431], [doi]
   (last updated on 2024/04/18)

   Abstract:
   Historically, data for genetic studies are collected at one time point. However, for diseases with late onset or with complex phenotypes, such as Alzheimer disease (AD), restricting diagnosis to a single ascertainment contact may not be sufficient. Affection status may change over time and some initial diagnoses may be inconclusive. Follow-up provides the opportunity to resolve these complications. However, to date, previous studies have not formally demonstrated that longitudinally re-contacting families is practical or productive. To update data initially collected for linkage analysis of late-onset Alzheimer disease (LOAD), we successfully re-contacted 63 of 81 (78%) multiplex families (two to 17 years after ascertainment). Clinical status changed for 73 of the 230 (32%) non-affected participants. Additionally, expanded family history identified 20 additional affected individuals to supplement the data set. Furthermore, fostering ongoing relationships with participating families helped recruit 101 affected participants into an autopsy and tissue donation program. Despite similar presentations, discordance between clinical diagnosis and neuropathologic diagnosis was observed in 28% of those with tissue diagnoses. Most of the families were successfully re-contacted, and significant refinement and supplementation of the data was achieved. We concluded that serial contact with longitudinal evaluation of families has significant implications for genetic analyses.