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Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN): Two Phenotypes—Dystonia and Spastic Paraparesis

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Dear Editor, Neurodegeneration with brain iron accumulation is a group of inherited disorders characterized by cognitive dysfunction and extrapyramidal and pyramidal signs with iron accumulation at the basal ganglia. Identifying… Click to show full abstract

Dear Editor, Neurodegeneration with brain iron accumulation is a group of inherited disorders characterized by cognitive dysfunction and extrapyramidal and pyramidal signs with iron accumulation at the basal ganglia. Identifying single neurodegeneration with brain iron accumulation (NBIA) subtype is challenging due to clinical and genetic heterogeneity. Mitochondrial membrane protein‐associated neurodegeneration, the third most common NBIA subtype, is a rare autosomal recessive disease caused by C19orf12 mutation.[1] We herein report two cases of MPAN, one with atypical and the other with typical presentation.

Keywords: protein associated; mitochondrial membrane; neurodegeneration; membrane protein; associated neurodegeneration

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2022

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