Mitochondrial membrane protein associated neurodegeneration
Mitochondrial membrane protein associated neurodegeneration (MPAN) is an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA).
Lower limb spacity, dysarthria, dysphagia, dystonia, neuropsychiatric symptoms, optic atrophy, Parkinsonism and cognitive decline 1.
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.
- 1. SALOMAO, Rubens Paulo Araújo et al. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arq. Neuro-Psiquiatr. 2016, vol.74, n.7, pp.587-596. ISSN 0004-282X. http://dx.doi.org/10.1590/0004-282X20160080 .
- 2. AMARAL LL et al. Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis. J Neuroimaging. 2015 Jul-Aug;25(4):539-51. doi: 10.1111/jon.12195 .