Beta-propeller protein-associated neurodegeneration

Beta-propeller protein-associated neurodegeneration
Other namesStatic encephalopathy of childhood with neurodegeneration in adulthood, Neurodegeneration with brain iron accumulation 5
SpecialtyNeurology 
SymptomsDevelopmental delay, seizures, mental handicap. In 2nd and 3rd decade patients develop parkinsonism or dystonia.
TreatmentAnticonvulsant, ketogenic diet, and vagus nerve stimulation might be used for seizures, and DBS for dystonia.

Beta-propeller protein-associated neurodegeneration (BPAN) (previously known as Static encephalopathy of childhood with neurodegeneration in adulthood-SENDA) is a rare hereditary X-linked dominant disorder, which is caused by a mutation in the gene WDR45. BPAN belongs to class of disorders called neurodegeneration with brain iron accumulation (NBIA), which causes brain iron elevation and neurodegeneration. Patients with BPAN develop symptoms, such as early onset developmental delay, seizures, and further neurological decline (such as dystonia, parkinsonism, and dementia, which develops by early adulthood). BPAN is one of the most common NBIA disorders.

As of 2024, 123 individuals with BPAN have been identified. There are more females than males with this disease, due to nonviability in males with germline mutations (because males have only one X chromosome, where the WDR45 gene is located). Patient with oldest onset of degeneration is 50 years old (at the time of the article's publication).

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