Rare Neurology News

Disease Profile

Frontotemporal dementia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adult

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ICD-10

G31.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Dementia, frontotemporal, with parkinsonism; Frontotemporal dementia with parkinsonism; Frontotemporal lobe dementia (FLDEM);

Categories

Nervous System Diseases

Summary

Frontotemporal dementias (FTDs) are a group of neurodegenerative disorders associated with shrinking of the frontal and temporal anterior lobes of the brain.[1] Symptoms include marked changes in social behavior and personality, and/or problems with language. People with behavior changes may have disinhibition (with socially inappropriate behavior), apathy and loss of empathy, hyperorality (eating excessive amounts of food or attempting to consume inedible things), agitation, compulsive behavior, and various other changes.[1][2] Examples of problems with language include difficulty speaking or understanding speech.[1] Some people with FTD also develop a motor syndrome such as parkinsonism or motor neuron disease (which may be associated with various additional symptoms).[2]

There is a strong genetic component to FTDs.[1][2] It sometimes follows an autosomal dominant inheritance pattern, or sometimes there is a general family history of dementia or psychiatric disorders.[2] The three main genes responsible for familial FTD are MAPT, GRN, and C9orf72. However, the genetic cause of familial FTD cannot always be identified.[2]

While there are currently no treatments to slow or stop the progression of the disease, some of the symptoms can be managed.[3] Treatment of symptoms may involve behavior modification, or medications for symptoms such as aggressiveness, agitation, or dangerous behaviors. Anti-depressants have been shown to improve some symptoms.[1] Involving a team of specialists can help ensure that the challenges of the disease are properly addressed.[3] Unfortunately, the outlook for people with FTD is poor, as the disease often progresses rapidly. However, the outlook does vary, with the disease course ranging from less than 2 years in some people, to more than 10 years in others.[1]

Although the name and classification of FTD has been a topic of discussion for over a century, the current classification considers Pick’s disease, primary progressive aphasia, and semantic dementia as sub-types of FTD.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Amyotrophic lateral sclerosis
0007354
Apathy
Lack of feeling, emotion, interest
0000741
Autosomal dominant inheritance
0000006
Disinhibition
0000734
Frontal lobe dementia
0000727
Frontotemporal dementia
0002145
Hyperorality
0000710
Inappropriate laughter
0000748
Inappropriate sexual behavior
0008768
Irritability
Irritable
0000737
Language impairment
0002463
Neuronal loss in central nervous system
Loss of brain cells
0002529
Parkinsonism
0001300
Personality changes
Personality change
0000751
Polyphagia
Voracious appetite
0002591
Primitive reflex
0002476

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

      • The FTD Support Forum is a online community for people with frontotemporal dementia and their families. Click on FTD support Forum to learn more.

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the following links to view articles on the CHMP2B-relatedGRN-related, and MAPT-related, types of this condition.
          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Frontotemporal dementia. Click on the link to view a sample search on this topic.

            References

            1. Frontotemporal Dementia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 21, 2018; https://www.ninds.nih.gov/Disorders/All-Disorders/Frontotemporal-Dementia-Information-Page.
            2. Lee SE, Miller BL. Frontotemporal dementia: Clinical features and diagnosis. UpToDate. Waltham, MA: UpToDate; December 15, 2017; https://www.uptodate.com/contents/frontotemporal-dementia-clinical-features-and-diagnosis.
            3. Understanding FTD: Disease Overview. The Association for Frontotemporal Degeneration (AFTD). 2016; https://www.theaftd.org/understandingftd/ftd-overview.