Why should primary care physicians know about the genetics of dementia?

• Published in: The Western journal of medicine 2001-12, Vol.175 (6), p.412-416
• Main Authors: Pinsky, Linda E, Burke, Wylie, Bird, Thomas D
• Format: Article
• Language: English
• Subjects: African Americans; Age; Aged; Alzheimer's disease; Apolipoprotein E4; Apolipoproteins; Apolipoproteins E - genetics; Dementia; Dementia - diagnosis; Dementia - genetics; Depression in old age; Family medical history; Female; Genetic aspects; Genetic Counseling; Genetic Markers; Genetic Testing - economics; Genetic Testing - psychology; Genetics; Humans; Male; Memory; Mutation; Patients; Sons; Studies
• ISSN: 0093-0415; 1476-2978
• DOI: 10.1136/ewjm.175.6.412

In many studies, a few patients show modest but useful behavioral or cognitive benefit with therapies that increase cholinergic activity by inhibiting acetylcholinesterase, such as tacrine, and newer, less hepatotoxic drugs with similar pharmacologic action, such as donepezil, rivastigmine, and galantamine. 21 , 22 , 23 The effect of APOE status on the response to tacrine has been evaluated in a few small studies with conflicting results.\n In these families, the risk of inheriting the disease-causing PSEN1 gene is 50% for each child of an affected person. Summary points A test for genetic variants of the apolipoprotein-E protein can identify individuals with an increased or decreased likelihood of late-onset Alzheimer disease Although the use of this test has been suggested by some as part of the workup for dementia, it is not sensitive or specific enough to preclude other investigations for dementia The same test can be used to identify asymptomatic people with an increased risk of Alzheimer disease, but several expert panels have recommended against such testing Some patients develop early-onset familial dementia on a genetic basis, and genetic testing may be helpful in such families Acknowledgement: Information in this article was adapted from Bird TD.