Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia

Arch Neurol. 2001 Nov;58(11):1828-31. doi: 10.1001/archneur.58.11.1828.


Background: DNA testing of persons at risk for hereditary, degenerative neurologic diseases is relatively new. Only anecdotal reports of such testing in familial Alzheimer disease (FAD) exist, and little is know about the personal and social impact of such testing.

Methods: In a descriptive, observational study, individuals at 50% risk for autosomal dominant, early-onset FAD or frontotemporal dementia with parkinsonism linked to chromosome 17 underwent DNA testing for the genetic mutations previously identified in affected family members. Individuals were followed up for (1/2) to 3 years and were interviewed regarding attitudes toward the testing process and the impact of the results.

Results: Twenty-one (8.4%) of 251 persons at risk for FAD or frontotemporal dementia requested genetic testing. The most common reasons for requesting testing were concern about early symptoms of dementia, financial or family planning, and relief from anxiety. Twelve individuals had positive DNA test results, and 6 of these had early symptoms of dementia; 8 had negative results; and 1 has not yet received results. Of 14 asymptomatic individuals completing testing, 13 believed the testing was beneficial. Two persons reported moderate anxiety and 1 reported moderate depression. As expected, persons with negative test results had happier experiences overall, but even they had to deal with ongoing anxiety and depression. Thus far, there have been no psychiatric hospitalizations, suicide attempts, or denials of insurance.

Conclusions: Genetic testing in early-onset FAD and frontotemporal dementia can be completed successfully. Most individuals demonstrate effective coping skills and find the testing to be beneficial, but long-term effects remain unknown.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Amyloid beta-Protein Precursor / genetics
  • DNA / analysis
  • Dementia / diagnosis
  • Dementia / genetics*
  • Female
  • Frontal Lobe
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Mutation
  • Presenilin-1
  • Presenilin-2
  • Temporal Lobe
  • tau Proteins / genetics


  • Amyloid beta-Protein Precursor
  • Membrane Proteins
  • PSEN1 protein, human
  • PSEN2 protein, human
  • Presenilin-1
  • Presenilin-2
  • tau Proteins
  • DNA