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Levodopa Responsive Parkinsonism in Patients with Hemochromatosis: Case Presentation and Literature Review

Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. Accumulation of iron in the brain has been postulated to be associated with several neurodegenerative diseases including Parkinson's disease. Th...

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Detalles Bibliográficos
Autores principales: Girotra, Tarun, Mahajan, Abhimanyu, Sidiropoulos, Christos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382304/
https://www.ncbi.nlm.nih.gov/pubmed/28424751
http://dx.doi.org/10.1155/2017/5146723
Descripción
Sumario:Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. Accumulation of iron in the brain has been postulated to be associated with several neurodegenerative diseases including Parkinson's disease. The excess iron promotes Parkin and α-synuclein aggregation in the neurons. Excess iron has also been noted in substantia nigra on MRI especially using susceptibility weighted imaging in patients with Parkinson's disease. We present a case of a young male with alleles for both C282Y and H63D who presented with signs of Parkinsonism and demonstrated significant improvement with levodopa treatment.