Overview
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome (PSP-PNFA) is a rare brain disorder that combines features of two conditions: progressive supranuclear palsy (PSP) and progressive non-fluent aphasia (PNFA). PSP is a condition that affects movement, balance, and eye movements, while PNFA is a type of language disorder where a person gradually loses the ability to speak fluently. In PSP-PNFA, patients typically develop increasing difficulty producing speech — words come out slowly, with effort, and sentences may be grammatically incorrect or broken. Over time, patients may also develop problems with balance, stiffness in the body, difficulty looking up or down (called vertical gaze palsy), and trouble swallowing. The disease is caused by an abnormal buildup of a protein called tau in certain areas of the brain, which damages nerve cells over time. This condition is part of a group of diseases known as tauopathies. There is currently no cure for PSP-PNFA. Treatment focuses on managing symptoms, such as speech therapy to help maintain communication as long as possible, physical therapy for balance and mobility issues, and medications to help with stiffness or mood changes. The disease tends to progress over several years, and a team of specialists is usually needed to provide the best care.
Key symptoms:
Slow, effortful speechDifficulty forming grammatically correct sentencesProblems finding the right wordsDifficulty moving the eyes, especially looking up or downBalance problems and frequent fallsStiffness in the neck, trunk, or limbsTrouble swallowingChanges in personality or behaviorSlowed movementsDifficulty with fine motor tasks like writingFacial stiffness or reduced facial expressionDepression or apathyCognitive decline over time
Clinical phenotype terms (21)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Late onset
Begins later in life, typically after age 50
Treatments
No FDA-approved treatments are currently listed for Progressive supranuclear palsy-progressive non-fluent aphasia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Progressive supranuclear palsy-progressive non-fluent aphasia syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Progressive supranuclear palsy-progressive non-fluent aphasia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage of the disease am I in, and what changes should I expect over the next year or two?,What therapies — such as speech therapy and physical therapy — should I start now to maintain my abilities as long as possible?,Are there any clinical trials for PSP or tauopathies that I might be eligible for?,What medications might help with my stiffness, balance, or mood symptoms?,When should we start planning for communication aids or assistive devices?,What steps should we take now for advance care planning?,What resources or support groups are available for me and my family?
Common questions about Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
What is Progressive supranuclear palsy-progressive non-fluent aphasia syndrome?
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome (PSP-PNFA) is a rare brain disorder that combines features of two conditions: progressive supranuclear palsy (PSP) and progressive non-fluent aphasia (PNFA). PSP is a condition that affects movement, balance, and eye movements, while PNFA is a type of language disorder where a person gradually loses the ability to speak fluently. In PSP-PNFA, patients typically develop increasing difficulty producing speech — words come out slowly, with effort, and sentences may be grammatically incorrect or broken. Over time, patients may
How is Progressive supranuclear palsy-progressive non-fluent aphasia syndrome inherited?
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive supranuclear palsy-progressive non-fluent aphasia syndrome typically begin?
Typical onset of Progressive supranuclear palsy-progressive non-fluent aphasia syndrome is late onset. Age of onset can vary across affected individuals.
Which specialists treat Progressive supranuclear palsy-progressive non-fluent aphasia syndrome?
4 specialists and care centers treating Progressive supranuclear palsy-progressive non-fluent aphasia syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.