Beta-propeller protein-associated neurodegeneration (BPAN) is a rare subtype of neurodegeneration with brain iron accumulation disease (NBIA). It is the only X-linked subtype of NBIA.
Characteristic clinical features include: 1
- global developmental delay during chilhood
- sudden onset of neurocognitive changes during adolescence or young adulthood associated with levodopa-resistant parkinsonism, dystonia, and dementia
It was previously known as static encephalopathy with neurodegeneration in adulthood (SENDA) because of these clinical features.
MRI findings are characterized by iron accumulation in the globus pallidus and substantia nigra.
T1: hyperintense signal in the globus pallidus (called the halo sign) 2 and substantia nigra, hypointense T1 central band within the hyperintense substantia nigra
T2: markedly hypointense signal in the globus pallidus and substantia nigra
- 1. Gregory A, Hayflick S. Neurodegeneration with Brain Iron Accumulation Disorders Overview. 2013 Feb 28 [Updated 2014 Apr 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- 2. Long M, Abdeen N, Geraghty MT, Hogarth P, Hayflick S, Venkateswaran S. Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay. Pediatrics. 136 (3): e714-7. doi:10.1542/peds.2015-0750 - Pubmed