Beta-propeller protein-associated neurodegeneration
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Beta-propeller protein-associated neurodegeneration (BPAN) is a rare subtype of neurodegeneration with brain iron accumulation disease (NBIA).
It was previously known as static encephalopathy with neurodegeneration in childhood (SENDA), but it was renamed after the underlying genetic abnormality was identified, and named in accordance with the other NBIA.
Characteristic clinical features include 3:
- global developmental delay during childhood
- sudden onset of neurocognitive changes during adolescence or young adulthood associated with levodopa resistant parkinsonism, dystonia, and dementia
It was previously known as SENDA because of these clinical features.
Other clinical features include:
- spastic cerebral palsy
- spastic quadriplegia
Iron accumulation in the brain specifically in globus pallidus and substantia nigra. This disorder is thought to be genetically determined with defective iron metabolism.
It is the only X-linked subtype of NBIA.
MRI findings are characterized by iron accumulation in the globus pallidus and substantia nigra.
- hyperintense signal in the globus pallidus (called the "halo sign") and substantia nigra 4
- bilateral hypointense central band within paired linear hyperintense signal substantia nigra is virtually pathognomonic 3,4
- T2: markedly hypointense signal in the globus pallidus and substantia nigra
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- 2. Kimura Y, Sato N, Sugai K et-al. MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Brain Dev. 2013;35 (5): 458-61. doi:10.1016/j.braindev.2012.07.008 - Pubmed citation
- 3. 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.
- 4. 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