Primary progressive aphasia

What causes primary progressive aphasia (PPA)?

Primary progressive aphasia (PPA) is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for language. This loss of brain tissue causes people with PPA to slowly lose their ability to find the right words they want to say or to understand words that other people say.

In some cases, PPA is caused by genetic changes (mutations or pathogenic variants) in the GRN gene. However, most cases of PPA are thought to be caused by a combination of genetic and environmental factors. People who have learning disabilities may be more likely to develop PPA.

Last updated on 05-01-20

How is primary progressive aphasia (PPA) diagnosed?

Primary progressive aphasia (PPA) may be suspected when a person has signs and symptoms of the disease including behavioral changes and progressive loss of language abilities. A doctor may then take a thorough personal medical history and family history to look for other signs of the disease. Most people who have PPA begin to develop symptoms suddenly, and they experience a progressive loss of language skills for two years without other loss of cognitive function. Imaging of the brain using a CT scan or MRI may confirm the diagnosis. In some cases, the exact type of disease that a person has cannot be determined until after he or she has passed away.

Last updated on 05-01-20

How is primary progressive aphasia (PPA) inherited?

About 40-50% of people with primary progressive aphasia (PPA) have other family members who are also affected by the disease. When PPA is caused by a genetic change (mutations or pathogenic variants) in the _GRN gene, it is inherited in an autosomal dominant manner. Like most genes, the GRN gene comes in a pair. One copy of the gene comes from the mother and the other copy from the father. Autosomal dominant means that only one copy of the GRN_ gene needs to have a pathogenic variant for a person to develop PPA.

When a person who has a pathogenic variant in the GRN gene has children, each child has a:

  • 50% chance to inherit the changed copy of the GRN gene, meaning he or she is at an increased risk to develop PPA
  • 50% chance to inherit the working copy of the GRN gene, meaning he or she is not at an increased risk to develop PPA

Most cases of PPA are not caused by a pathogenic variants in the GRN gene, but PPA can still run in families. In these situations, the disease is likely more common in the family because of shared genetic and environmental factors.

Last updated on 05-01-20

What are the stages of primary progressive aphasia semantic variant?

Symptoms of the semantic variant of primary progressive aphasia typically begin between the ages of 55 and 70. Half of affected individuals were living 13 years after symptoms began. The first sign of this condition is when an individual has persistent difficulty finding the right word when speaking. Speech, grammar, and the ability to understand sentences usually remain normal in the initial stage. As the disease progresses, affected individuals leave out an increasing number of words from the sentences they speak and substitute general words for particular words (for example, they say "animal" instead of "cat"). Eventually, individuals with the semantic variant may develop other features of this disease, such as depression, eating disorders, or changes in social behavior.

Additionally, one article studied the progression of primary progressive aphasia in general (that is, they did not distinguish between the variants). This article found that the average age when affected individuals first developed symptoms is 62. The time frame until total language loss varied between 5 to 10 years. Daily living activities first became more difficult 6 to 7 years after the first symptoms appeared; affected individuals were unable to care for themselves for the last 1 to 2 years of life. Overall, individuals with primary progressive aphasia lived an average of 7 years after symptoms first developed.

Last updated on 05-01-20

What is the long-term outlook for people with primary progressive aphasia (PPA)?

Primary progressive aphasia (PPA) is typically a progressive disease, meaning that people who have the disease tend to continue to lose language skills. Many people who have the disease eventually completely lose the ability to use language to communicate.

People who have the disease typically live about 3-12 years after they are originally diagnosed. In some people, difficulty with language remains the primary symptom, while others may develop additional problems including cognitive or behavioral changes or difficulty coordinating movements. Many people with PPA eventually require care and monitoring at home to help them in daily life. People who have PPA may be more likely to experience complications such as an injury or infections such as pneumonia.

Last updated on 05-01-20

How might primary progressive aphasia (PPA) be treated?

Unfortunately, there is no cure for primary progressive aphasia (PPA). Treatment is focused on slowing the progression of the disease and helping the person to adapt to the loss of language skills in everyday life. For example, speech therapy may be a helpful tool for people with PPA to maintain language skills for as long as possible. Some people benefit from learning sign language or other ways to communicate.

Selective serotonin reuptake inhibitors (SSRIs) can be used to treat behavioral changes that may be associated with PPA. These medications may also help treat symptoms of anxiety or depression, which can impact people who have PPA. Clinical trials are ongoing to try to determine more effective treatments for PPA.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Primary progressive aphasia - resources

Mesulam M. Primary progressive aphasia: A dementia of the language network. Dement Neuropsychol. 2013 Jan 1; 7(1):2-9.

Last updated on 04-27-20

Name: National Aphasia Association P.O. Box 87
Scarsdale, NY, 10583, United States
Toll Free: 800-922-4622 Email: naa@aphasia.org Url: http://www.aphasia.org
Name: Frontotemporal Dementia Caregiver Support Center Email: jeffbrauer@cableone.net Url: http://www.ftdsupport.com
Name: Association for Frontotemporal Degeneration AFTD Radnor Station Building 2 Suite 320
290 King of Prussia Road
Radnor, PA, 19087, United States
Phone: +1-267-514-7221 Toll Free: 1-866-507-7222 Email: info@theaftd.org Url: https://www.theaftd.org/
Name: Aphasia Hope Foundation 750 Woodlands Pkwy
Ridgeland, MS, 39157, United States
Phone: (913)-484-8302 Email: jstradinger.2007@comcast.net Url: http://aphasiahope.wpengine.com/
Name: Frontotemporal Lobar Degeneration Association (FTLDA) 21019 U.S. Hwy. 281 Suite 830-27
San Antonio, TX, 78258, United States
Phone: 210-824-9510 Email: oxford@ftlda.org Url: http://www.ftlda.org/
Name: Aphasia Center of Maine 6027 Village on the Green #130
Carrabassett Valley, ME, 04947, United States
Phone: 207.237.2123 Email: info@aphasiacenterofmaine.org Url: http://www.aphasiacenterofmaine.org/

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