Neurodegeneración con acúmulo cerebral de hierro / Neurodegeneration with brain iron accumulation
Clavero Ibarra, P.
Rev. neurol. (Ed. impr.)
; 54(supl.4): s99-s106, 3 oct., 2012. tab
Article
in Spanish
| IBECS | ID: ibc-150525
Introduction. Alterations in iron metabolism have been related with several neurodegenerative diseases. In some cases it is the main element of the disease while in others, such as Alzheimer's or Parkinsons disease, its alteration has been reported but its exact pathophysiological significance remains unknown. Aims. The aim of the study was to carry out a review of the literature on the current knowledge about diseases that are accompanied by deposits of iron in the brain. Development. The term neurodegeneration with brain iron accumulation (NBIA) is used to refer to a heterogeneous group of hereditary (mostly autosomal recessive) diseases that are accompanied by deposits of iron in certain areas of the brain. The most frequent cause is a mutation in the PANK2 gene, which is called Pantothenate Kinase-Associated Neurodegeneration (PKAN). The initial description corresponds to Hallervorden-Spatz syndrome. The clinical picture includes motor manifestations and psychomotor deterioration with a progressive development until disability and the death of the patient. Magnetic resonance imaging shows characteristic alterations mainly involving the globus pallidus. NBIA also includes neuroferritinopathy, aceruloplasminemia and some forms associated to mutations in the PLA2G6 gene, diseases that share certain clinical characteristics, and the presence of alterations in the MRI scan, although there are differences from one to another. Conclusions. Understanding the different genetic alterations has made it possible to achieve a better nosological classification of NBIA. Both the clinical features and the pattern of alterations in MRI can be useful in the diagnosis. For the time being there are no treatments that modify the course of the disease (AU)
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