Neurodegeneration with brain iron accumulation is a collective term for neurodegenerative disorders characterized by excessive deposition of iron in the brain, especially in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration mainly affects the pyramidal and extrapyramidal systems, and patients can present with various manifestations during disease progression, including gait disorder, dystonia, ataxia, swallowing dysfunction, neuropsychiatric abnormalities, cognitive disabilities, optic atrophy, and, sometimes, peripheral neuropathy. We report a patient of mitochondrial membrane protein-associated neurodegeneration with peripheral neuropathy as the predominant symptom.
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Lakhanpal et al. (2024) studied this question.
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