Inherited Alzheimer's disease PS-1 olfactory function: a 10-year follow-up study.
This study was undertaken to evaluate smell tests as a clinical marker for identifying mutation carrier status and determining the clinical diagnosis of presenilin-1 Alzheimer's disease (AD) in family members of those afflicted with the disease. Ten years ago, we gave the self-administered, 40-question scratch and sniff University of Pennsylvania Smell Identification Test to 18 at-risk family members, individuals with dominantly-inherited Alzheimer's disease. Testing results were normal 10 years ago except in the case of one individual who had smoked three packs of cigarettes a day for more than 23 years. Four subjects tested in 1990 are now afflicted with Alzheimer's disease, including the smoker. The smell test in 1990 did not demonstrate predictive capabilities before clinical conversion to dementia. At follow-up, two subjects were too impaired to take the test. Two "converted" from normal smell function to abnormal function with a wide range in score. Study findings indicate that the smell test is too variable a measure to be used as a reliable test for predicting or verifying a diagnosis of presenilin-1 Alzheimer's disease.
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Family Studies Unit, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland, USA.
Lippa
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D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D000857:Olfaction Disorders / Q000175:diagnosis / Q000235:genetics*; D011237:Predictive Value of Tests; D053764:Presenilin-1
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1