title: [GENETICALLY DETERMINED DISEASES ASSOCIATED WITH PATHOLOGICAL BRAIN IRON ACCUMULATION AND NEURODEGENERATION].
abstract: 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.
authors.forename: Péter
authors.initials: P
authors.lastname: Ács
authors.forename: Mária Judit
authors.initials: MJ
authors.lastname: Molnár
authors.forename: Péter
authors.initials: P
authors.lastname: Klivényi
authors.forename: Bernadette
authors.initials: B
authors.lastname: Kálmán
mesh_terms: D000505:Alopecia / Q000175:diagnosis / Q000235:genetics; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics; D001480:Basal Ganglia Diseases / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D002570:Ceruloplasmin / Q000235:genetics; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics; D054522:Group VI Phospholipases A2 / Q000235:genetics; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D006899:Mixed Function Oxygenases / Q000235:genetics; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics; D014166:Transferases / Q000235:genetics
chemical_list: D007501:Iron; D006899:Mixed Function Oxygenases; C019081:fatty acid alpha-hydroxylase; D002570:Ceruloplasmin; D014166:Transferases; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; C509687:COASY protein, human; D054522:Group VI Phospholipases A2; C516475:PLA2G6 protein, human