Frontotemporal Dementia

Description

Frontotemporal degeneration (FTD), or Frontotemporal dementia dementia, is a group of disorders characterized by the progressive loss of neurons in the frontal and temporal regions of the brain. The understanding of the genetics of FTD and related conditions, like amyotrophic lateral sclerosis (ALS) is advancing rapidly. There are several known genetic causes of FTD, with the three most common being pathogenic variants in the C9orf72, GRN, and MAPT genes. Genetic counselling is indicated for all individuals with FTD due to the relatively high yield of genetic testing in this population.

The yield of genetic testing in individuals with FTD is ~15-20%. Most hereditary forms of FTD are inherited at an autosomal dominant manner. It is possible to have a genetic cause of FTD when nobody else in the family has had FTD or a related condition (i.e. apparently sporadic), though it is more likely to find a genetic cause when there is a family history of neurologic disease, particularly in first-degree relatives. For individuals with a history of clinical symptoms of amyotrophic lateral sclerosis or a strong family history, the yield is as high as 64.1%.

Therapies are under development to target specific genetic causes of FTD.
If a genetic cause is identified, this can provide information for family planning as well as information to understand the risk to family members.

Most known genetic causes of FTD are inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance to pass on the condition with each pregnancy.

The Penn FTD Center is the largest young-onset dementia center on the east coast and contains ~60 full-time research and clinical staff, including four board-certified cognitive neurologists with specialized expertise in FTD, two neuropsychologists, a nurse practitioner, clinical nurse, a genetics counselor, a social worker, outreach coordinator. We are a leader therapeutic trials in FTD, including first-in-human gene therapy trials for familial FTD, and have an internationally-recognized genetic counseling program to help improve the diagnosis and care for familial FTD and at-risk asymptomatic family members. Finally, we have an active patient and family outreach program with two highly-attended annual patient/family conferences at Penn and other patient support activities.
National Institute of Neurological Disorders and Stroke – Frontotemporal Dementia and other Frontotemporal Disorders

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