BPAN - NBIA Disorders Association
Beta-propeller Protein-Associated Neurodegeneration. (BPAN) is caused by mutations in the WDR45 gene on the X chromosome. It is inherited in an X-linked dominant manner, meaning that a single copy of the mutated gene is enough to cause disease in both males and females.
Beta-propeller protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Explore symptoms, inheritance, genetics of this condition.
Beta-propeller protein-associated neurodegeneration | About the Disease …
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 …
Beta-Propeller Protein-Associated Neurodegeneration
Feb 16, 2017 · Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent-to-limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder.
WHAT IS BPAN? - Don't Forget Morgan
Beta-propeller protein-associated neurodegeneration (BPAN) is a genetic disorder that damages the nervous system and is a progressive disease, which means that that kids will eventually lose all the skills they’ve worked so hard to gain.
BPAN | NBIA - NBIAcure
BPAN (Beta-propeller Protein-associated Neurodegeneration) is emerging as the most common NBIA disorder. It is characterized by childhood developmental delay and seizures, with adult-onset movement problems, including dystonia and parkinsonism.
WDR45-Related Disorders and BPAN - Children's Hospital of Philadelphia
Beta-Propeller Protein-Associated Neurodegeneration (BPAN) The most common form of WDR45-related disorders is beta-propeller protein-associated neurodegeneration (BPAN), which is classified as a form of neurodegeneration with brain iron accumulation (NBIA). This condition most commonly affects girls, although boys may rarely be affected as well.
Overview of NBIA Disorders
BPAN, or Beta-propeller Protein-Associated Neurodegeneration, is caused by mutations in the gene WDR45, located on the X chromosome. Most affected individuals identified so far have been simplex, or isolated cases; they are the only person in their family to have the disease.
Consensus clinical management guideline for beta-propeller …
BPAN is an X-linked dominant disorder caused by pathogenic variants in WDR45, resulting in a broad clinical phenotype and imaging spectrum.
Beta-propeller protein-associated neurodegeneration: A clinical …
Jun 8, 2023 · BPAN is a phenotypically distinct, X-linked form of NBIA caused by an error in autophagy due to a WDR45 gene mutation. •. Patients with BPAN present with a global developmental delay that remains relatively static until adolescence/young adulthood. •.