Mitochondrial membrane protein associated neurodegeneration
Updates to Article Attributes
Mitochondrial membrane protein associated-associated neurodegeneration (MPAN) is an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA).
Clinical presentation
Lower limb spacityspasticity, dysarthria, dysphagia, dystonia, neuropsychiatric symptoms, optic atrophy, Parkinsonism, and cognitive decline 1.
Pathology
MPAN is caused by mutations in C19orf12 gene, leading to iron accumulation in the globus pallidus and substantia nigra, gliosis, and neuronal loss. Cortical and cerebellar atrophy may be seen 1.
Radiographic features
MRI
Iron accumulation (hypointense signal on T2* and GRE) in the globus pallidus and substantia nigra 1,2.
A distinctive finding is a linear T2 hyperintensity in the medial medullary lamina between globus pallidus interna and externa, with absence of eye of the tiger sign (rarefaction of the central globus pallidus) 2.
-<p><strong>Mitochondrial membrane </strong><strong>protein associated</strong><strong> neurodegeneration</strong> (<strong>MPAN</strong>) is an autosomal recessive form of <a href="/articles/neurodegeneration-with-brain-iron-accumulation-2">neurodegeneration with brain iron accumulation (NBIA)</a>.</p><h4>Clinical presentation</h4><p>Lower limb spacity, dysarthria, dysphagia, dystonia, neuropsychiatric symptoms, optic atrophy, Parkinsonism and cognitive decline <sup>1</sup>.</p><h4>Pathology</h4><p>MPAN is caused by mutations in <em>C19orf12</em> gene, leading to iron accumulation in the <a href="/articles/globus-pallidus">globus pallidus</a> and <a href="/articles/substantia-nigra">substantia nigra</a>, <a href="/articles/gliosis">gliosis</a> and neuronal loss. Cortical and <a href="/articles/diffuse-cerebellar-atrophy">cerebellar atrophy</a> may be seen <sup>1</sup>.</p><h4>Radiographic features</h4><h5>MRI</h5><p>Iron accumulation (hypointense signal on T2* and GRE) in the globus pallidus and substantia nigra <sup>1,2</sup>.</p><p>A distinctive finding is a linear T2 hyperintensity in the medial medullary lamina between globus pallidus interna and externa, with absence of <a href="/articles/eye-of-the-tiger-sign-globus-pallidus">eye of the tiger sign</a> (rarefaction of the central globus pallidus) <sup>2</sup>.</p>- +<p><strong>Mitochondrial membrane </strong><strong>protein-associated</strong><strong> neurodegeneration</strong> (<strong>MPAN</strong>) is an autosomal recessive form of <a href="/articles/neurodegeneration-with-brain-iron-accumulation-2">neurodegeneration with brain iron accumulation (NBIA)</a>.</p><h4>Clinical presentation</h4><p>Lower limb spasticity, dysarthria, dysphagia, dystonia, neuropsychiatric symptoms, optic atrophy, Parkinsonism, and cognitive decline <sup>1</sup>.</p><h4>Pathology</h4><p>MPAN is caused by mutations in <em>C19orf12</em> gene, leading to iron accumulation in the <a href="/articles/globus-pallidus">globus pallidus</a> and <a href="/articles/substantia-nigra">substantia nigra</a>, <a href="/articles/gliosis">gliosis</a>, and neuronal loss. Cortical and <a href="/articles/diffuse-cerebellar-atrophy">cerebellar atrophy</a> may be seen <sup>1</sup>.</p><h4>Radiographic features</h4><h5>MRI</h5><p>Iron accumulation (hypointense signal on T2* and GRE) in the globus pallidus and substantia nigra <sup>1,2</sup>.</p><p>A distinctive finding is a linear T2 hyperintensity in the medial medullary lamina between globus pallidus interna and externa, with absence of <a href="/articles/eye-of-the-tiger-sign-globus-pallidus">eye of the tiger sign</a> (rarefaction of the central globus pallidus) <sup>2</sup>.</p>
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