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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>BPAN is caused by variants (also called mutations) in the WDR45 gene. This gene provides instructions for making the WIPI4 protein. WIPI4 has a characteristic structure resembling a seven-bladed propeller, from which the name of the disorder is derived. The WIPI4 protein is involved in a process called autophagy, which helps clear unneeded materials from cells, including excess amounts of an iron storage protein called ferritin.</p><p>Most of the WDR45 gene variants identified in people with BPAN result in the absence of functioning WIPI4 protein. As a result, the process of autophagy is impaired, making cells less efficient at removing damaged cell structures and waste materials. Researchers suggest that nerve cells (neurons) may be particularly vulnerable to impaired autophagy because they have long extensions (axons and dendrites), making it even more difficult to transport the waste materials from these structures to the compartments in the cell body where recycling takes place (the lysosomes). The waste materials can build up in these areas and damage them. Damage to neurons results in the neurological problems that occur in BPAN.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/beta-propeller-protein-associated-neurodegeneration/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Beta-propeller protein-associated neurodegeneration?"},{"bodyHtml":"<p>Many people with BPAN have recurrent seizures (epilepsy) beginning in infancy or early childhood. Several different types of seizures can occur in this disorder, even in the same individual. Often the first type to occur are febrile seizures, which are triggered by a high fever. Affected individuals can also experience generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Other seizure types that can occur in this disorder include short lapses in awareness that can have the appearance of staring spells or daydreaming (absence seizures, also called petit mal seizures), sudden episodes of weak muscle tone (atonic seizures), involuntary muscle twitches (myoclonic seizures), or more pronounced movements called epileptic spasms. Some individuals have seizure patterns that resemble those in epileptic syndromes, such as West syndrome or Lennox-Gastaut syndrome.</p><p>Children with BPAN also have intellectual disability, delayed development including significant problems with vocabulary and producing speech (expressive language), and difficulty coordinating movements (ataxia). Ataxia can affect the ability to walk and perform fine motor skills such as using utensils. Affected individuals can have neurodevelopmental issues that are often compared to features of a disorder called Rett syndrome. These features include repeated hand wringing or clasping (stereotypic hand movements); teeth grinding (bruxism); sleep disturbances; and problems with communication and social interaction characteristic of autism spectrum disorder.</p><p>In late adolescence or early adulthood, individuals with BPAN may begin to experience a gradual loss of intellectual functioning (cognitive decline) that can lead to a severe loss of thinking and reasoning abilities (dementia). Worsening problems with movement also occur, including dystonia and parkinsonism. Dystonia is a condition characterized by involuntary, sustained muscle contractions. In BPAN, the dystonia often starts in the arms. Parkinsonism can include unusually slow movement (bradykinesia), rigidity, tremors, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.</p><p>The lifespan of people with BPAN varies. With proper management of their signs and symptoms, affected individuals can live into middle age. Death may result from complications of dementia or movement problems, such as injuries from falls or swallowing difficulties (dysphagia) that can lead to a bacterial lung infection called aspiration pneumonia.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/beta-propeller-protein-associated-neurodegeneration\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"beta-propeller-protein-associated-neurodegeneration","sourceDocuments":[{"name":"Beta-propeller protein-associated neurodegeneration","reviewed":"2017-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:50.152354+00:00","label":"Causes","pageSha256":"1d3ab1326743c0d5ba9758f99eab557f1e6f19003c3e63a0d3a217f4c35e96f0","sourceUrl":"https://medlineplus.gov/genetics/condition/beta-propeller-protein-associated-neurodegeneration/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/beta-propeller-protein-associated-neurodegeneration"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Beta-propeller protein-associated neurodegeneration"},"schemaVersion":1}