Catalog

Beta-Propeller protein-associated neurodegeneration

No MMS code

Link to WHO Definition

Beta-Propeller protein-associated neurodegeneration – http://id.who.int/icd/entity/1841340749

Beta-propeller Protein-Associated Neurodegeneration (BPAN) is the most common form of Neurodegeneration with brain iron accumulation (NBIA) and caused by mutations in the gene WDR45, located on the X chromosome. Most affected individuals identified so far have been simplex cases, meaning they are the only person in their family to have the disease. The majority are females, indicating the mutations are new, also known as de novo, and suggesting that mutations may be lethal in most males before birth. There are rare instances of recurrence in a sibling. In these cases, the mutation was inherited from a mildly affected parent. 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. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings.