Beta-propeller protein-associated neurodegeneration
Updates to Article Attributes
Beta-propeller protein-associated neurodegeneration (BPAN) is 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 to the other NBIA.
Pathology
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.
Clinical presentation
Characteristic clinical features include3: 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
Radiographic features
MRI
MRI findings are characterizedcharacterised by iron accumulation in the globus pallidus and substantia nigra.
- T1:
- hyperintense signal in the globus pallidus (called the
halo'halo sign') and substantia nigra,4 -
bilateral hypointense
T1central band withinthepaired linear hyperintense signal substantia nigra is virtually pathognomonic 3,4
- hyperintense signal in the globus pallidus (called the
- T2: markedly hypointense signal in the globus pallidus and substantia nigra
See also
-<p><strong>Beta-propeller protein-associated neurodegeneration (BPAN)</strong> is a rare subtype of <a href="/articles/neurodegeneration-with-brain-iron-accumulation-2">neurodegeneration with brain iron accumulation disease (NBIA)</a>.</p><p>It was previously known as <strong>static encephalopathy with neurodegeneration in childhood (SENDA)</strong>, but it was renamed after the underlying genetic abnormality was identified, and named in accordance to the other NBIA.</p><h4>Pathology</h4><p>Iron accumulation in the brain specifically in globus pallidus and substantia nigra. This disorder is thought to be genetically determined with defective iron metabolism.</p><p>It is the only X-linked subtype of NBIA.</p><h4>Clinical presentation</h4><p>Characteristic clinical features include:<sup> 3</sup></p><ul>- +<p><strong>Beta-propeller protein-associated neurodegeneration (BPAN)</strong> is a rare subtype of <a href="/articles/neurodegeneration-with-brain-iron-accumulation-2">neurodegeneration with brain iron accumulation disease (NBIA)</a>.</p><p>It was previously known as <strong>static encephalopathy with neurodegeneration in childhood (SENDA)</strong>, but it was renamed after the underlying genetic abnormality was identified, and named in accordance to the other NBIA.</p><h4>Pathology</h4><p>Iron accumulation in the brain specifically in globus pallidus and substantia nigra. This disorder is thought to be genetically determined with defective iron metabolism.</p><p>It is the only X-linked subtype of NBIA.</p><h4>Clinical presentation</h4><p>Characteristic clinical features include <sup>3</sup>:</p><ul>
-</ul><p>Other clinical features include:</p><ul>- +</ul><p>It was previously known as SENDA because of these clinical features.</p><p>Other clinical features include:</p><ul>
-</ul><h4>Radiographic features </h4><h5>MRI </h5><p>MRI findings are characterized by iron accumulation in the globus pallidus and substantia nigra.</p><p>T1: hyperintense signal in the globus pallidus (called the halo sign) and substantia nigra, hypointense T1 central band within the hyperintense substantia nigra 3,4</p><p>T2: markedly hypointense signal in the globus pallidus and substantia nigra </p>- +</ul><h4>Radiographic features </h4><h5>MRI </h5><p>MRI findings are characterised by iron accumulation in the globus pallidus and substantia nigra.</p><ul>
- +<li>T1:<ul>
- +<li>hyperintense signal in the globus pallidus (called the 'halo sign') and substantia nigra <sup>4</sup>
- +</li>
- +<li>bilateral hypointense central band within paired linear hyperintense signal substantia nigra is virtually pathognomonic <sup>3,4</sup>
- +</li>
- +</ul>
- +</li>
- +<li>T2: markedly hypointense signal in the globus pallidus and substantia nigra</li>
- +</ul><h4>See also</h4><ul><li>
- +<a title="NBIA" href="/articles/neurodegeneration-with-brain-iron-accumulation-2">NBIA</a> </li></ul>