Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

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ORPHA:240094OMIM:260540G23.1
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1FDA treatments2Active trials8Treatment centers

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Overview

Progressive supranuclear palsy-pure akinesia with gait freezing (PSP-PAGF) is a rare brain disorder that belongs to the family of progressive supranuclear palsy conditions. It is sometimes called 'pure akinesia with gait freezing' or simply 'PAGF.' In this condition, a protein called tau builds up abnormally in certain brain cells, gradually damaging areas that control movement. Unlike the more common form of progressive supranuclear palsy (known as Richardson syndrome), PSP-PAGF mainly affects a person's ability to start and maintain movements, especially walking. The hallmark symptom is gait freezing — a sudden, temporary inability to move the feet forward, as if they are glued to the floor. People may also develop freezing of speech and handwriting (micrographia). Importantly, in the early stages, patients typically do not have the prominent eye movement problems or early falls seen in classic PSP. The disease progresses slowly over many years. Over time, balance problems and falls may develop, and some patients eventually show mild eye movement difficulties. There is currently no cure for PSP-PAGF, and no treatment can stop or reverse the underlying brain damage. Management focuses on symptom relief, physical therapy to maintain mobility and reduce fall risk, and speech therapy when needed. Levodopa, a medication commonly used for Parkinson's disease, is sometimes tried but usually provides little or no lasting benefit in PSP-PAGF. Research into tau-targeting therapies is ongoing and may offer hope for future treatments.

Also known as:

Key symptoms:

Gait freezing — feet suddenly feel stuck to the floor while walkingDifficulty starting to walk or turningSlow movement (akinesia)Freezing of speech — words get stuck or speech becomes very quietSmall, cramped handwriting (micrographia)Shuffling stepsFalls, especially as the disease progressesStiffness in the legs or trunkDifficulty with balanceMild eye movement problems in later stagesSoft or monotone voiceDifficulty with fine motor tasks

Clinical phenotype terms (21)— hover any for plain English
AkinesiaHP:0002304Freezing of gaitHP:0031825Weak voiceHP:0001621Fixed facial expressionHP:0005329Abnormal prosodyHP:0031434PalilaliaHP:0031814MicrographiaHP:0031908TachylaliaHP:0031937Short stepped shuffling gaitHP:0007311Hypometric saccadesHP:0000571
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Late onset

Begins later in life, typically after age 50

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Feb 2025Spinal Cord Stimulation for Freezing of Gait in Parkinson's Disease

Universitaire Ziekenhuizen KU Leuven — PHASE2

TrialRECRUITING
Nov 2021Effect of Theta-Burst Transcranial Magnetic Stimulation (TBS) for Freezing of Gait

Anhui Medical University — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Aminocaproic Acid

AMINOCAPROIC ACID· American Regent, Inc.

Fibrinolytic bleeding may frequently be associated with hematological disorders such as aplastic anemia

Clinical Trials

2 recruitingView all trials with filters →
Phase 21 trial
Spinal Cord Stimulation for Freezing of Gait in Parkinson's Disease
Phase 2
Actively Recruiting
PI: Philippe De Vloo, MD, PhD, Prof. (Department of Neurosurgery, University Hospitals L) · Sites: Leuven · Age: 4080 yrs
N/A1 trial
Effect of Theta-Burst Transcranial Magnetic Stimulation (TBS) for Freezing of Gait
N/A
Actively Recruiting
· Sites: Hefei, Anhui · Age: 4085 yrs

No specialists are currently listed for Progressive supranuclear palsy-pure akinesia with gait freezing syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Progressive supranuclear palsy-pure akinesia with gait freezing syndrome.

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How can you be sure this is PSP-PAGF and not Parkinson's disease or another form of PSP?,What physical therapy approaches are most effective for gait freezing?,Are there any medications worth trying for my freezing episodes?,How quickly should I expect the disease to progress in my case?,Are there any clinical trials for PSP that I might be eligible for?,When should I consider using a walker or wheelchair?,What should I do if I start having trouble swallowing?

Common questions about Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

What is Progressive supranuclear palsy-pure akinesia with gait freezing syndrome?

Progressive supranuclear palsy-pure akinesia with gait freezing (PSP-PAGF) is a rare brain disorder that belongs to the family of progressive supranuclear palsy conditions. It is sometimes called 'pure akinesia with gait freezing' or simply 'PAGF.' In this condition, a protein called tau builds up abnormally in certain brain cells, gradually damaging areas that control movement. Unlike the more common form of progressive supranuclear palsy (known as Richardson syndrome), PSP-PAGF mainly affects a person's ability to start and maintain movements, especially walking. The hallmark symptom is gait

How is Progressive supranuclear palsy-pure akinesia with gait freezing syndrome inherited?

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Progressive supranuclear palsy-pure akinesia with gait freezing syndrome typically begin?

Typical onset of Progressive supranuclear palsy-pure akinesia with gait freezing syndrome is late onset. Age of onset can vary across affected individuals.

Are there clinical trials for Progressive supranuclear palsy-pure akinesia with gait freezing syndrome?

Yes — 2 recruiting clinical trials are currently listed for Progressive supranuclear palsy-pure akinesia with gait freezing syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.