Document Detail

Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia.
MedLine Citation:
PMID:  11708991     Owner:  NLM     Status:  MEDLINE    
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.
E J Steinbart; C O Smith; P Poorkaj; T D Bird
Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Archives of neurology     Volume:  58     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  2001 Nov 
Date Detail:
Created Date:  2001-11-15     Completed Date:  2001-12-07     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1828-31     Citation Subset:  AIM; IM    
Department of Neurology, University of Washington Medical School, VA Puget Sound Health Care System, Seattle, USA.
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MeSH Terms
Alzheimer Disease / diagnosis,  genetics*
Amyloid beta-Protein Precursor / genetics
DNA / analysis
Dementia / diagnosis,  genetics*
Frontal Lobe
Genetic Counseling
Genetic Predisposition to Disease*
Genetic Testing*
Membrane Proteins / genetics
Middle Aged
Temporal Lobe
tau Proteins / genetics
Grant Support
AG05136/AG/NIA NIH HHS; H133B980008//PHS HHS
Reg. No./Substance:
0/Amyloid beta-Protein Precursor; 0/Membrane Proteins; 0/PSEN1 protein, human; 0/PSEN2 protein, human; 0/Presenilin-1; 0/Presenilin-2; 0/tau Proteins; 9007-49-2/DNA

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