____________________________________________________________________ Frontotemporal Dementia
Patient A’s husband shares the results of her genetic testing and autopsy with their three adult children. Each of Patient A’s three children is at a 50% risk for having inherited the MAPT genetic mutation. Two of the children request pre- symptomatic genetic testing. The two children who request pre- symptomatic genetic testing are referred to professional genetic counselors. After genetic counseling, they both choose to have pre-symptomatic genetic testing done. One defers getting the results for two years, underscoring the very difficult personal decision it can be to choose pre-symptomatic genetic testing. Patient A demonstrated the typical symptoms of bvFTD and her evaluation was done at a dementia center by specialists with expertise in FTD, so her initial diagnosis was strong. The neurologic evaluation, blood tests, neuropsychologic testing, and neuroimaging together led to the clinical diagnosis of bvFTD. Patient A’s family history showed a pattern of auto- somal dominant inheritance. The genetic cause of her FTD was confirmed by clinical genetic testing, which documented a mutation in the MAPT gene. CONCLUSION FTD is now recognized as one of the most common causes of dementia in persons younger than 65 years of age. This course has provided an overview of FTD epidemiology, pathophysiol- ogy, clinical presentation, diagnosis, management, prognosis, and current research. Understanding FTD can help healthcare professionals provide better care to patients with FTD and support to their families.
RESOURCES
Association for Frontotemporal Degeneration 2700 Horizon Drive, Suite 120 King of Prussia, PA 19406 (866) 507-7222 https://www.theaftd.org National Institute on Aging Building 31, Room 5C27
31 Center Drive, MSC 2292 Bethesda, MD 20892-2292 (800) 222-2225 https://www.nia.nih.gov National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 (800) 352-9424 https://www.ninds.nih.gov
WORKS CITED https://qr2.mobi/248rv
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MDRI2026
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