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Disease Profile
Primary progressive aphasia
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
Age of onset
Adult
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
Symptoms
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 | |
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 |
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 |
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
In some cases, PPA is caused by genetic changes (
Diagnosis
Treatment
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]
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
-
Aphasia Center of Maine
6027 Village on the Green #130
Carrabassett Valley, ME 04947
Telephone: 207.237.2123
E-mail: info@aphasiacenterofmaine.org
Website: https://www.aphasiacenterofmaine.org/ -
Aphasia Hope Foundation
750 Woodlands Pkwy
Ridgeland, MS 39157
Telephone: (913)-484-8302
E-mail: jstradinger.2007@comcast.net
Website: https://aphasiahope.wpengine.com/ -
Association for Frontotemporal Degeneration (AFTD)
2700 Horizon Drive, Suite 120
King of Prussia, PA 19406
Toll-free: 1-866-507-7222
Telephone: +1-267-514-7221
E-mail: info@theaftd.org
Website: https://www.theaftd.org/
Organizations Providing General Support
-
National Aphasia Association (NAA)
P.O. Box 87
Scarsdale, NY 10583
E-mail: naa@aphasia.org
Website: https://www.aphasia.org/
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.
References
- 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/.
- Primary progressive aphasia. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95432. Accessed 3/27/2018.
- Hsiung GYR and Feldman HH. GRN-Related Frontotemporal Dementia. GeneReviews. March 14, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1371/.
- 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.
- 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/.
- 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.
- 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.
- 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.
- Disease Overview. The Association for Frontotemporal Degeneration. https://www.theaftd.org/understandingftd/ftd-overview. Accessed 3/27/2018.
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