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Disease Profile

Primary progressive aphasia

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.

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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)

Aphasia, primary progressive; Primary progressive aphasia syndrome; PPA

Categories

Nervous System Diseases

Summary

Primary progressive aphasia (PPA) affects a person's ability to use language to communicate. This includes difficulty making or understanding speech (aphasia).[1] PPA is a specific type of a more general disease called frontotemporal dementia.[2] PPA can be classified into three distinct types which include:[1]

PPA is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language.[1] In some cases, this loss of tissue is caused by genetic changes (mutations or pathogenic variants) in the GRN gene. In these cases, the disease is inherited in an autosomal dominant manner.[3] Diagnosis of PPA is suspected when a doctor observes signs and symptoms such as progressive loss of language abilities. Imaging of the brain with a CT scan or MRI can confirm the diagnosis.[1] Although there is no cure for the disease, treatment options include speech therapy and medication to manage behavioral changes.[1][3]

Symptoms

Symptoms of primary progressive aphasia (PPA) usually begin gradually. The age that symptoms begin is typically between 50-70 years.[4] The first symptoms of the disease may include speech problems and behavioral changes.[3] Speech problems may include difficulty naming objects, difficulty forming words, frequent pauses in speech, slow speech, difficulty comprehending speech, and problems with grammar.[1][3] In general, speech problems are the primary symptom of PPA for the first couple of years. Eventually some people may develop problems with judgement and other cognitive skills.[5]

PPA is a progressive disease, meaning the symptoms generally worsen over time. People who have PPA may become unable to speak (mute) and completely lose the ability to understand written or spoken language.[3] Some people develop symptoms of depression as the disease progresses.[5] In some cases, progressive language loss may be the initial symptom of another neurodegenerative disease, such as Alzheimer disease.[1]

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
Agitation
0000713
Apathy
Lack of feeling, emotion, interest
0000741
Aphasia
Difficulty finding words
Losing words
Loss of words

[ more ]

0002381
Apraxia
0002186
Autosomal dominant inheritance
0000006
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Dilation of lateral ventricles
0006956
Disinhibition
0000734
Dysphasia
0002357
Frontotemporal dementia
0002145
Gliosis
0002171
Hallucinations
Hallucination
Sensory hallucination

[ more ]

0000738
Hyperorality
0000710
Hypersexuality
Sex addiction
0030214
Lewy bodies
0100315
Memory impairment
Forgetfulness
Memory loss
Memory problems
Poor memory

[ more ]

0002354
Mutism
Inability to speak
Muteness

[ more ]

0002300
Neurofibrillary tangles
0002185
Neuronal loss in central nervous system
Loss of brain cells
0002529
Parkinsonism
0001300
Perseveration
0030223
Personality changes
Personality change
0000751
Polyphagia
Voracious appetite
0002591
Progressive language deterioration
0007064
Repetitive compulsive behavior
0008762

Cause

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.[1]

In some cases, PPA is caused by genetic changes (mutations or pathogenic variants) in the GRN gene.[2] However, most cases of PPA are thought to be caused by a combination of genetic and environmental factors.[5] People who have learning disabilities may be more likely to develop PPA.[1]

Diagnosis

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.[4] Imaging of the brain using a CT scan or MRI may confirm the diagnosis.[1] In some cases, the exact type of disease that a person has cannot be determined until after he or she has passed away.[6]

Treatment

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.[1] Some people benefit from learning sign language or other ways to communicate.[3][7] 

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.[2] Clinical trials are ongoing to try to determine more effective treatments for PPA.[8]

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

    Organizations Providing General Support

      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

      • The MayoClinic.com provides information about Primary progressive aphasia. Click on the above link to access this information.

        In-Depth Information

        • 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 Primary progressive aphasia. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Ratnavalli E. Progress in the last decade in our understanding of primary progressive aphasia. Ann Indian Acad Neurol. December 2010; 13(Suppl2):S109-S115. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039160/.
            2. Primary progressive aphasia. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95432. Accessed 3/27/2018.
            3. Hsiung GYR and Feldman HH. GRN-Related Frontotemporal Dementia. GeneReviews. March 14, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1371/.
            4. Matías-Guiu JA and García-Ramos R. Primary progressive aphasia: from syndrome to disease. Neurologia. July-August 2013; 28(6):366-374. https://www.ncbi.nlm.nih.gov/pubmed/22703637.
            5. Léger GC and Johnson N. A review on primary progressive aphasia. Neuropsychiatric Disease and Treatment. December 2007; 3(6):745-752. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656316/.
            6. Utianski RL, Duffy JR, Savica R, Whitwell JL, Machulda MM, and Josephs KA. Molecular neuroimaging in primary progressive aphasia with predominant agraphia. Neurocase. March 2018; 23:1-3. https://www.ncbi.nlm.nih.gov/pubmed/29569990.
            7. Jokel R, Meltzer J, D.R.J., D.M.L., J.C.J., A.N.E., and D.T.C. Group intervention for individuals with primary progressive aphasia and their spouses: Who comes first?. Journal of Communication Disorders. March 2017; 66:51-64. https://www.ncbi.nlm.nih.gov/pubmed/28412599.
            8. 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.
            9. Disease Overview. The Association for Frontotemporal Degeneration. https://www.theaftd.org/understandingftd/ftd-overview. Accessed 3/27/2018.

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