What is Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy?
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy is an extremely rare genetic brain disorder. The name describes its key features: it affects the white matter (leuko-) of the brain (encephalopathy), particularly in the back (posterior) regions, where small cavities or holes form in the damaged white matter (cavitating). The condition also involves damage to the nerves outside the brain and spinal cord (peripheral neuropathy). Importantly, the brain changes are described as non-progressive, meaning they tend to remain stable rather than getting worse over time, though the clinical picture can vary. People with this condition may experience motor difficulties such as weakness or clumsiness, numbness or tingling in the hands and feet, and problems with balance and coordination. Some individuals may have developmental delays or learning difficulties. Brain MRI scans typically show characteristic white matter abnormalities with cavitation, mainly in the posterior (back) parts of the brain. Because this disease is so rare, treatment options are currently limited to managing symptoms. There is no specific cure or disease-modifying therapy available. Care typically involves a team of specialists including neurologists, rehabilitation therapists, and geneticists who work together to support the patient's quality of life and address individual symptoms as they arise.
Key symptoms:
Weakness in the arms and legsNumbness or tingling in hands and feetDifficulty with balance and coordinationDelayed motor milestones such as walkingMuscle stiffness or spasticityReduced reflexesDifficulty with fine motor tasksWhite matter abnormalities seen on brain MRILearning difficulties or mild intellectual disabilityFatigueUnsteady gaitMuscle wasting in the lower legs or feet
Clinical phenotype terms (38)— hover any for plain English
- Progressive leukoencephalopathyHP:0006980
- Progressive peripheral neuropathyHP:0007133
- Renal tubular dysfunctionHP:0000124
- Inheritance
- Autosomal recessive
- Passed on when both parents carry the same gene change; often skips generations
- Age of Onset
- Childhood
- Begins in childhood, roughly ages 1 to 12
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy.
Community
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Start the conversation →Latest news about Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy.
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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.How stable is my child's condition likely to remain over time?,What therapies are most important to start right away?,How often should brain MRI and nerve conduction studies be repeated?,Are there any clinical trials or research studies we could participate in?,What school accommodations should we request?,Should other family members be tested for this genetic condition?,What signs should prompt us to seek urgent medical attention?
Common questions about Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
What is Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy?
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy is an extremely rare genetic brain disorder. The name describes its key features: it affects the white matter (leuko-) of the brain (encephalopathy), particularly in the back (posterior) regions, where small cavities or holes form in the damaged white matter (cavitating). The condition also involves damage to the nerves outside the brain and spinal cord (peripheral neuropathy). Importantly, the brain changes are described as non-progressive, meaning they tend to remain stable rather than getting w
How is Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy inherited?
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy typically begin?
Typical onset of Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy is childhood. Age of onset can vary across affected individuals.
Frequently asked questions about Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy?
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:436271, OMIM 619061). It is typically inherited as autosomal recessive. Age of onset is generally childhood. For verified primary sources, see the UniteRare Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy page.
How is Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy inherited?
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy follows autosomal recessive inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy?
Approved treatments for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy?
Active clinical trials for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy?
Verified Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy page for complete clinical details, sources, and verified-specialist listings.
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