Primary progressive aphasia

Title

Other Names:

Aphasia, primary progressive; Primary progressive aphasia syndrome; PPA

Categories:

Nervous System Diseases

Summary Summary

Primary progressive aphasia (PPA) is a disorder characterized by language disturbance, including difficulty making or understanding speech (aphasia).^[1] In the early stages, PPA often causes difficulty with naming, word finding, or word comprehension. In later stages, affected people often become mute and lose their ability to communicate. PPA may sometimes be the initial manifestation of another neurodegenerative disease, such as frontotemporal dementia or Alzheimer disease.^[1] In some cases, PPA is caused by mutations in the GRN gene and is inherited in an autosomal dominant maner.^[2]

PPA can be classified into three distinct types which include progressive non-fluent aphasia (PNFA), semantic dementia (SD), and the logopenic variant (LPA).^[1]

Last updated: 9/10/2014

Symptoms Symptoms

Signs and symptoms of primary progressive aphasia (PPA) usually begin gradually and vary based on the type of PPA present. In addition to speech problems, reading and writing also are usually affected. Symptoms generally worsen over time. Affected people may become mute and eventually lose the ability to understand written or spoken language.^[3] Although additional cognitive symptoms may emerge later in the course of the illness, deficits must be generally confined to the area of language for at least a couple of years to fulfill a diagnosis of PPA.^[4]

People with the semantic dementia type may have difficulty with:^[3]

understanding spoken or written language, particularly single words
understanding word meanings
naming objects

People with the lopogenic type may have:

difficulty retrieving words in speech
frequent pauses in speech while searching for words
slow speech
difficulty repeating phrases or sentences

People with the progressive non-fluent type may have:

difficulty speaking
hesitant, halting speech
errors in speech sounds
difficulty understanding sentences
difficulty using grammar correctly

Some people with PPA are ultimately diagnosed with other neurodegenerative diseases.^[5]

Last updated: 9/10/2014

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Agitation	-
Apathy	-
Aphasia	-
Apraxia	-
Autosomal dominant inheritance	-
Cerebral cortical atrophy	-
Dilation of lateral ventricles	-
Disinhibition	-
Dysphasia	-
Frontotemporal dementia	-
Gliosis	-
Hallucinations	-
Hyperorality	-
Hypersexuality	-
Memory impairment	-
Mutism	-
Neuronal loss in central nervous system	-
Parkinsonism	-
Perseveration	-
Personality changes	-
Polyphagia	-
Progressive language deterioration	-
Repetitive compulsive behavior	-

Last updated: 9/1/2016

Prognosis Prognosis

There is limited information in the medical literature about the long-term outlook (prognosis) for people with primary progressive aphasia (PPA) and what ultimately causes death in affected people. PPA may be the form of onset of any of a number of different neurodegenerative diseases.^[5] Prognosis may therefore vary depending on whether another neurodegenerative disease develops, and what that disease is.

While the age of onset of PPA tends to fall between the ages of 50 and 70 years, some people may become affected before or after this age range. The condition tends to progress, developing into mutism in many cases. Loss of independence occurs at a later stage than in other types of dementia (at 7 years in 50% of all affected people, according to one author). Survival typically ranges from about 7 to 10 years, although recent studies suggest that the course of PPA may be more gradual. In some people, language deficiency remains the predominant symptom, or even the only one. Others may develop additional problems including cognitive, behavioral, or extrapyramidal deficits (such as Parkinsonism). It is not known how often people with PPA develop generalized dementia or additional deficiencies (which is called ‘PPA plus’) in the course of this disease. In one follow-up study by Kertesz et al., 54% of the people in the study developed a second or third syndrome other than PPA (such as frontotemporal dementia, progressive supranuclear palsy, or corticobasal degeneration) during monitoring.^[5] Alzheimer disease (AD) is found in many autopsies, but it is not known whether AD can cause PPA in its early stages or if two neurodegenerative diseases are coexisting as a result of shared causes.^[5]

Because various neurodegenerative diseases may ultimately be diagnosed in people with PPA, it is not possible to predict the timing and nature of future complications in affected people. If another neurodegenerative disease is diagnosed, the prognosis (including possible future causes of death) is likely to relate to the specific disease present. However, one of the most common causes of death for many associated conditions including progressive supranuclear palsy and frontotemporal dementia is pneumonia.^[6]^[7]

People with questions about the specific prognosis for themselves or family members should speak with their health care provider.

Last updated: 9/15/2014

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Primary progressive aphasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Patient Registry

The Advancing Research and Treatment for Frontotemporal Lobar Degeneration Consortium (ARTFL) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on conditions that occur in association with frontotemporal lobar degeneration. The ARTFL has a contact registry for patients who wish to be contacted about clinical research opportunities and updates on the progress of the ARTFL research projects.

For more information on the registry see: http://www.rarediseasesnetwork.org/cms/artfl/Get-Involved/Contact-Registry

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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

Aphasia Hope Foundation
P.O. Box 26304
Shawnee Mission, KS 66225-6304
Telephone: 913-839-8083
E-mail: judistradinger@aphasiahope.org
Website: http://www.aphasiahope.org/
Association for Frontotemporal Dementias (AFTD)
Radnor Station Building 2
Suite 320
290 King of Prussia Road
Radnor, PA 19087
Toll-free: 866-507-7222
Telephone: 267-514-7221
E-mail: info@theaftd.org
Website: http://www.theaftd.org/
Frontotemporal Dementia Caregiver Support Center
E-mail: jeffbrauer@cableone.net
Website: http://www.ftdsupport.com
Frontotemporal Lobar Degeneration Association (FTLDA)
21019 U.S.Hwy. 281
Suite 830-27
San Antonio, TX 78258
Telephone: 210-824-9510
E-mail: oxford@ftlda.org
Website: http://www.ftlda.org/
National Aphasia Association
350 Seventh Avenue, Suite 902
New York, NY 10001
Toll-free: 800-922-4622
E-mail: responsecenter@aphasia.org
Website: http://www.aphasia.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

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

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

Rogalski EJ, Rademaker A, Wieneke C, Bigio EH, Weintraub S, Mesulam MM. The prevalence of learning disabilities in primary progressive aphasia is not segregated by pathology or subtype. JAMA Neurol. 2014 Dec; 71(12):1576-7.
Mesulam MM, Rogalski EJ, Wieneke C, Hurley RS, Geula C, Bigio EH, Thompson CK, Weintraub S. Primary progressive aphasia and the evolving neurology of the language network. Nat Rev Neurol. 2014 Oct; 10(10):554-69.
Rogalski E, Weintraub S, Mesulam MM. Are there susceptibility factors for primary progressive aphasia? Brain Lang. 2013 Nov; 127(2):135-8.
Mesulam M. Primary progressive aphasia: A dementia of the language network. Dement Neuropsychol. 2013 Jan 1; 7(1):2-9.

Related Diseases Related Diseases

The following diseases are related to Primary progressive aphasia. If you have a question about any of these diseases, you can contact GARD.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What are the causes of death related to PPA? I see lots of information about life expectancy, but nothing indicating what it is that eventually causes death. See answer
Do you have any information on the stages of progressive primary aphasia (PPA) semantic variant? See answer

Have a question? Contact a GARD Information Specialist.

References References

Ratnavalli E.. Progress in the last decade in our understanding of primary progressive aphasia. Ann Indian Acad Neurol. 2010; 13:S109-S115. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039160/?tool=pubmed. Accessed 2/20/2013.
Hsiung GR & Feldman HH. GRN-Related Frontotemporal Dementia. GeneReview. 2007; http://www.ncbi.nlm.nih.gov/books/NBK1371/. Accessed 4/19/2011.
Primary Progressive Aphasia. Mayo Clinic. January 16, 2013; http://www.mayoclinic.org/diseases-conditions/primary-progressive-aphasia/basics/definition/con-20029406. Accessed 9/10/2014.
Gabriel C Léger and Nancy Johnson. A review on primary progressive aphasia. Neuropsychiatric Disease and Treatment. December, 2007; 3(6):745-752. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656316/. Accessed 9/10/2014.
J.A. Matías-Guiu, R. García-Ramos. Primary progressive aphasia: From syndrome to disease. Neurologia. July-August, 2013; 28(6):366-374. Accessed 9/15/2014.
NINDS Progressive Supranuclear Palsy Information Page. NINDS. April 16, 2014; http://www.ninds.nih.gov/disorders/psp/psp.htm. Accessed 9/15/2014.
Disease Overview. The Association for Frontotemporal Degeneration. http://www.theaftd.org/understandingftd/ftd-overview. Accessed 9/15/2014.
NINDS Frontotemporal Dementia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 1, 2016; http://www.ninds.nih.gov/disorders/picks/picks.htm.