Course Case Studies

Frontotemporal Degeneration

Course #96101 - $15 • 2 Hours/Credits

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Patient A was a high school homecoming queen who completed two years of college, worked in an office, then married and had three children. She was an energetic homemaker and an active community volunteer, serving as school parent-teacher association president for several years, and was fastidious about her appearance.

Patient A's mother, three maternal uncles, a maternal grandfather, and great-grandmother died with dementia; her brother and maternal aunt are living with the disease. The mean age of onset of dementia in the family is 51 years, and the mean age at death is 67 years.

When Patient A is 52 years of age, her husband notices changes in her behavior. She often appears distracted, and her impeccable grooming declines. She is less affectionate toward him and she stops participating in community activities. She has difficulty making arrangements for a planned vacation. Her previously gourmet meals become simple, functional meals. She becomes obsessed with repeatedly raking the lawn, eventually killing all the grass in the yard. When her grandchildren visit, Patient A alternates between ignoring them and playing too rough. Patient A begins to impulsively leave the house for fast-paced walks, but she always returns home and never gets lost. She frequently visits a local shopping mall, getting down on her hands and knees looking for dropped change near the cash registers. She is once stopped by mall security for shoplifting. When shopping with her husband, she approaches strangers, stands inappropriately close to them, and announces "We don't know you."

Patient A's husband brings her to a dementia clinic for evaluation. A neurologic examination and neuropsychologic testing are completed. Memory and visual-spatial performance are in the normal range, but personality, judgment, and executive function show significant decline. A brain MRI shows frontal and anterior temporal lobe atrophy, and the diagnosis of familial bvFTD is made. Clinical genetic testing identifies a mutation in the MAPT gene on chromosome 17, the believed cause of the dementia.

Patient A's husband stops working in order to care for her at home. As her disease progresses, Patient A requires increasing care and supervision. She spends much of her day watching television, writing numbers in a notebook, and pacing. She develops a craving for sweets and often rummages through kitchen cabinets looking for candy. At mealtime, Patient A stuffs her mouth with food before chewing and swallowing properly, precipitating episodes of choking. She also develops a pattern of hand-clapping that she repeats every few minutes, along with the phrase "We haven't had any phone calls lately."

Patient A's husband is encouraged to accept help from others (such as their adult children), consider local adult day care programs, and utilize respite care at a nearby nursing home. He is in monthly phone contact with nursing staff to review symptoms and develop strategies for managing symptoms. At different times during her illness, Patient A is prescribed an antidepressant and an antipsychotic medication (off label) to treat difficult behavioral symptoms, but both were eventually discontinued. The family faces financial difficulties as a result of the husband's loss of income, diminished retirement benefits, and the later cost of nursing home care. Social work support helps the family address issues such as insurance, social security benefits, adult day care programs, and selecting a nursing facility for eventual long-term care.

When Patient A is 60 years of age, her husband is no longer able to care for her at home and she is admitted to a skilled nursing facility. She is incontinent and requires full care for all activities of daily living. Her husband visits twice daily, and she always appears to recognize him. That same year, Patient A dies unexpectedly of a myocardial infarction. A brain autopsy is done and confirms the diagnosis of FTD.

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 autosomal dominant inheritance. The genetic cause of her FTD was confirmed by clinical genetic testing, which documented a mutation in the MAPT gene.

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