Overview
PLA2G6-associated neurodegeneration (PLAN) is a group of rare inherited brain disorders caused by changes (mutations) in the PLA2G6 gene. This gene provides instructions for making an enzyme that helps maintain healthy cell membranes, especially in the brain. When this enzyme does not work properly, iron and other abnormal substances can build up in the brain, leading to progressive damage to nerve cells. PLAN includes several related conditions that were once considered separate diseases: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy, and PLA2G6-related dystonia-parkinsonism. The infantile form typically begins between ages 6 months and 3 years, with loss of previously learned skills such as walking and talking, along with vision problems and increasing muscle stiffness or floppiness. The later-onset forms may appear in childhood, adolescence, or adulthood and can include movement problems resembling Parkinson's disease, psychiatric symptoms, and cognitive decline. There is currently no cure for PLAN. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, medications for movement problems and seizures, nutritional support, and assistive devices. Research into potential therapies is ongoing, and clinical trials may be available for some patients.
Also known as:
Key symptoms:
Loss of previously learned skills (developmental regression)Difficulty walking or inability to walkMuscle stiffness or spasticityFloppy muscles (low muscle tone) in early stagesVision loss or difficulty seeingSeizuresInvoluntary eye movements (nystagmus)Difficulty speaking or loss of speechSwallowing difficultiesTremor or shakingStiffness and slow movements resembling Parkinson's diseaseIntellectual decline or learning difficultiesBehavioral or psychiatric changesUnsteady walking or poor balanceInvoluntary muscle contractions (dystonia)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for PLA2G6-associated neurodegeneration.
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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 PLA2G6-associated neurodegeneration.
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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 form of PLAN does my child or family member have, and what is the expected course of the disease?,Are there any clinical trials or experimental treatments currently available for PLAN?,What therapies and supportive services should we start now to maintain function as long as possible?,How will we monitor for complications like seizures, swallowing problems, and nutritional issues?,Should other family members be tested to see if they are carriers of the PLA2G6 mutation?,What palliative care and quality-of-life support services are available to us?,Can you connect us with other families affected by PLAN or with patient advocacy organizations?
Common questions about PLA2G6-associated neurodegeneration
What is PLA2G6-associated neurodegeneration?
PLA2G6-associated neurodegeneration (PLAN) is a group of rare inherited brain disorders caused by changes (mutations) in the PLA2G6 gene. This gene provides instructions for making an enzyme that helps maintain healthy cell membranes, especially in the brain. When this enzyme does not work properly, iron and other abnormal substances can build up in the brain, leading to progressive damage to nerve cells. PLAN includes several related conditions that were once considered separate diseases: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy, and PLA2G6-related dystonia-park
How is PLA2G6-associated neurodegeneration inherited?
PLA2G6-associated neurodegeneration follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat PLA2G6-associated neurodegeneration?
2 specialists and care centers treating PLA2G6-associated neurodegeneration are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.