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Longitudinal follow-up of late-onset Alzheimer disease families.

Publication ,  Journal Article
Carney, RM; Slifer, MA; Lin, PI; Gaskell, PC; Scott, WK; Potocky, CF; Hulette, CM; Welsh-Bohmer, KA; Schmechel, DE; Vance, JM; Pericak-Vance, MA
Published in: Am J Med Genet B Neuropsychiatr Genet
July 5, 2008

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.

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Published In

Am J Med Genet B Neuropsychiatr Genet

DOI

EISSN

1552-485X

Publication Date

July 5, 2008

Volume

147B

Issue

5

Start / End Page

571 / 578

Location

United States

Related Subject Headings

  • Male
  • Longitudinal Studies
  • Humans
  • Follow-Up Studies
  • Female
  • Apolipoproteins E
  • Alzheimer Disease
  • Aged
  • Age of Onset
  • 3209 Neurosciences
 

Citation

APA
Chicago
ICMJE
MLA
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Carney, R. M., Slifer, M. A., Lin, P. I., Gaskell, P. C., Scott, W. K., Potocky, C. F., … Pericak-Vance, M. A. (2008). Longitudinal follow-up of late-onset Alzheimer disease families. Am J Med Genet B Neuropsychiatr Genet, 147B(5), 571–578. https://doi.org/10.1002/ajmg.b.30590
Carney, R. M., M. A. Slifer, P. I. Lin, P. C. Gaskell, W. K. Scott, C. F. Potocky, C. M. Hulette, et al. “Longitudinal follow-up of late-onset Alzheimer disease families.Am J Med Genet B Neuropsychiatr Genet 147B, no. 5 (July 5, 2008): 571–78. https://doi.org/10.1002/ajmg.b.30590.
Carney RM, Slifer MA, Lin PI, Gaskell PC, Scott WK, Potocky CF, et al. Longitudinal follow-up of late-onset Alzheimer disease families. Am J Med Genet B Neuropsychiatr Genet. 2008 Jul 5;147B(5):571–8.
Carney, R. M., et al. “Longitudinal follow-up of late-onset Alzheimer disease families.Am J Med Genet B Neuropsychiatr Genet, vol. 147B, no. 5, July 2008, pp. 571–78. Pubmed, doi:10.1002/ajmg.b.30590.
Carney RM, Slifer MA, Lin PI, Gaskell PC, Scott WK, Potocky CF, Hulette CM, Welsh-Bohmer KA, Schmechel DE, Vance JM, Pericak-Vance MA. Longitudinal follow-up of late-onset Alzheimer disease families. Am J Med Genet B Neuropsychiatr Genet. 2008 Jul 5;147B(5):571–578.
Journal cover image

Published In

Am J Med Genet B Neuropsychiatr Genet

DOI

EISSN

1552-485X

Publication Date

July 5, 2008

Volume

147B

Issue

5

Start / End Page

571 / 578

Location

United States

Related Subject Headings

  • Male
  • Longitudinal Studies
  • Humans
  • Follow-Up Studies
  • Female
  • Apolipoproteins E
  • Alzheimer Disease
  • Aged
  • Age of Onset
  • 3209 Neurosciences