Clinical Neuroscience

[Genetically determined diseases associated with pathological brain iron accumulation and neurodegeneration]

ÁCS Péter1, MOLNÁR Mária Judit2, KLIVÉNYI Péter3, KÁLMÁN Bernadette4

MAY 30, 2016

Clinical Neuroscience - 2016;69(05-06)

DOI: https://doi.org/10.18071/isz.69.0157

[The rare, genetically determined group of diseases characterized by pathological accumulation of iron in the central nervous system and progressive, typically movement disorder’s symptoms are called NBIA (neurodegeneration with brain iron accumulation). By the rapid development of molecular genetics, it has become apparent that different mutations in numerous genes can lead to pathological cerebral iron accumulation. Simultaneously, it has also been recognized that the age of onset, the symptoms and the prognosis of NBIA disorders are much more diverse than it was previously perceived. To our knowledge, a review article on the most recent clinical data of NBIA has not been published in Hungarian. In the first part of this publication, we survey the general clinical characteristics and the diagnostic algorithm of NBIA diseases and address some considerations for differential diagnostics. In the second part of this review, the particular NBIA disorders are presented in details. The purpose of this article is to provide a clinical overview that may be useful for neurologists, pediatricians and any other medical practitioners interested in this field.]

AFFILIATIONS

  1. Pécsi Tudományegyetem, Neurológiai Klinika, Pécs
  2. Semmelweis Egyetem, Genomikai Medicina és Ritka Betegségek Intézete, Budapest
  3. Szegedi Tudományegyetem, Neurológiai Klinika, Szeged
  4. Pécsi Tudományegyetem, ETK, Markusovszky Egyetemi Oktatókórház, Szombathely

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