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Beta-Propeller Protein-Associated Neurodegeneration

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Other Names:
BPAN; NBIA5; Neurodegeneration with brain iron accumulation type 5; BPAN; NBIA5; Neurodegeneration with brain iron accumulation type 5; SENDA; Static encephalopathy of childhood with neurdegeneration in adulthood; Neurodegeneration with brain iron accululation 5 ; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD See More
Categories:
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a hereditary neurologic disorder. It is part of the group of disorders known as neurodegeneration with brain iron accumulation. This disorder presents with global developmental delay in childhood which becomes progressive in early adulthood. Symptoms include dystonia (a movement disorder resulting in muscular spasms, twisting and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), and cognitive decline.[1][2] BPAN is caused by mutations in the WDR45 gene.[3]  It is inherited in a dominant X-linked manner. Treatment is aimed at addressing the symptoms found in each individual.[2]   
Last updated: 1/20/2017

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.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal autonomic nervous system physiology 0012332
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] 		0000496
Bradykinesia
Slow movements
Slowness of movements
[ more ] 		0002067
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
Dementia
Dementia, progressive
Progressive dementia
[ more ] 		0000726
Dystonia 0001332
Frontal release signs 0000743
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Iron accumulation in substantia nigra 0012678
Parkinsonism 0001300
Poor speech 0002465
Progressive encephalopathy 0002448
Rigidity
Muscle rigidity
0002063
Sleep disturbance
Difficulty sleeping
Trouble sleeping
[ more ] 		0002360
Spastic paraparesis 0002313
Tremor 0001337
5%-29% of people have these symptoms
Aggressive behavior
Aggressiveness
Aggression
Aggressive behaviour
[ more ] 		0000718
Optic atrophy 0000648
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] 		0001344
Neurodegeneration
Ongoing loss of nerve cells
0002180
X-linked dominant inheritance 0001423
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

  • Genetics Home Reference (GHR) contains information on Beta-Propeller Protein-Associated Neurodegeneration . This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Jankovic J. Bradykinetic movement disorders in children. UpToDate. August 12, 2015; http://www.uptodate.com/contents/bradykinetic-movement-disorders-in-children.
  2. NBIA Disorders Association. Overview of NBIA Disorders. http://www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders.
  3. Saitsu, H & cols. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nature Genet. 2013; 45:445-449. http://www.nature.com/ng/journal/v45/n4/full/ng.2562.html.