. "V" . "1"^^ . . "13" . "157854" . . "Parkinsonsk\u00FD syndrom a extrapyramidov\u00E9 projevy u neurodegenerativn\u00EDch onemocn\u011Bn\u00ED v\u00E1zan\u00FDch na poruchy metabolizmu \u017Eeleza" . . . "CZ - \u010Cesk\u00E1 republika" . "Parkinsonian syndrome and extrapyramidal symptoms in neurodegenerative diseases associated with disorders of iron metabolism"@en . "Parkinsonian syndrome and extrapyramidal symptoms in neurodegenerative diseases associated with disorders of iron metabolism"@en . . "Parkinsonsk\u00FD syndrom a extrapyramidov\u00E9 projevy u neurodegenerativn\u00EDch onemocn\u011Bn\u00ED v\u00E1zan\u00FDch na poruchy metabolizmu \u017Eeleza"@cs . . "RIV/00843989:_____/12:00102473!RIV13-MZ0-00843989" . "Neurologie pro praxi" . . "Parkinsonsk\u00FD syndrom a extrapyramidov\u00E9 projevy u neurodegenerativn\u00EDch onemocn\u011Bn\u00ED v\u00E1zan\u00FDch na poruchy metabolizmu \u017Eeleza" . . . . . "RIV/00843989:_____/12:00102473" . "B\u00E1rtov\u00E1, Petra" . . "\u017Delezo hraje v\u00FDznamnou \u00FAlohu v lidsk\u00E9m organizmu. Neurodegenerace s akumulac\u00ED \u017Eeleza (NBIA) charakterizuje heterogenn\u00ED skupinu neurodegenerativn\u00EDch onemocn\u011Bn\u00ED spojenou s hromad\u011Bn\u00EDm \u017Eeleza v centr\u00E1ln\u00EDch oblastech mozku. Nej\u010Dast\u011Bj\u0161\u00EDm onemocn\u011Bn\u00EDm t\u00E9to skupiny je neurodegenerace asociovan\u00E1 s pantoten\u00E1tkin\u00E1zou (PKAN), autozom\u00E1ln\u011B recesivn\u00ED onemocn\u011Bn\u00ED charakterizovan\u00E9 mutac\u00ED PANK2 genu a posti\u017Een\u00EDm metabolizmu koenzymu A. D\u00E1le sem pat\u0159\u00ED neurodegenerace spojen\u00E1 s fosfolip\u00E1zou A2 s mutac\u00ED PLA2G6 genu a onemocn\u011Bn\u00ED, jako je neuroferitinopatie, aceruloplazmin\u00E9mie a dal\u0161\u00ED, kter\u00E9 se v sou\u010Dasn\u00E9 dob\u011B \u0159ad\u00ED ke skupin\u011B NBIA. S metabolizmem \u017Eeleza souvis\u00ED i dal\u0161\u00ED syst\u00E9mov\u00E1 onemocn\u011Bn\u00ED, nap\u0159. hemochromat\u00F3za. \u010Cl\u00E1nek uv\u00E1d\u00ED charakteristiku, klinick\u00E9 projevy spole\u010Dn\u011B s mo\u017Enostmi diagnostiky a diferenci\u00E1ln\u00ED diagnostiky t\u011Bchto chorob."@cs . "Parkinsonsk\u00FD syndrom a extrapyramidov\u00E9 projevy u neurodegenerativn\u00EDch onemocn\u011Bn\u00ED v\u00E1zan\u00FDch na poruchy metabolizmu \u017Eeleza"@cs . . "[A20173C337B3]" . "3" . "6"^^ . "Iron plays a significant role in the human body. Neurodegeneration with brain iron accumulation (NBIA) characterizes a heterogeneous group of neurodegenerative diseases associated with iron accumulation in the central areas of the brain. The most common disease of this group is pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disease characterized by a mutation in the PANK2 gene and impaired metabolism of coenzyme A. Also included here are phospholipase A2-associated neurodegeneration caused by a mutation in the PLA2G6 gene and conditions, such as neuroferritinopathy, aceruloplasminaemia, and others, that currently belong to the NBIA group. Iron metabolism is also linked to other systemic conditions, e.g. haemochromatosis. The paper presents the characteristic features, clinical manifestations as well as the options for diagnosis and differential diagnosis of these conditions. aceruloplasminaemia, haemochromatosis."@en . . "neurodegeneration with brain iron accumulation; pantothenate kinase-associated neurodegeneration; neuroferritinopathy; aceruloplasminaemia; haemochromatosis"@en . "1213-1814" . . "\u017Delezo hraje v\u00FDznamnou \u00FAlohu v lidsk\u00E9m organizmu. Neurodegenerace s akumulac\u00ED \u017Eeleza (NBIA) charakterizuje heterogenn\u00ED skupinu neurodegenerativn\u00EDch onemocn\u011Bn\u00ED spojenou s hromad\u011Bn\u00EDm \u017Eeleza v centr\u00E1ln\u00EDch oblastech mozku. Nej\u010Dast\u011Bj\u0161\u00EDm onemocn\u011Bn\u00EDm t\u00E9to skupiny je neurodegenerace asociovan\u00E1 s pantoten\u00E1tkin\u00E1zou (PKAN), autozom\u00E1ln\u011B recesivn\u00ED onemocn\u011Bn\u00ED charakterizovan\u00E9 mutac\u00ED PANK2 genu a posti\u017Een\u00EDm metabolizmu koenzymu A. D\u00E1le sem pat\u0159\u00ED neurodegenerace spojen\u00E1 s fosfolip\u00E1zou A2 s mutac\u00ED PLA2G6 genu a onemocn\u011Bn\u00ED, jako je neuroferitinopatie, aceruloplazmin\u00E9mie a dal\u0161\u00ED, kter\u00E9 se v sou\u010Dasn\u00E9 dob\u011B \u0159ad\u00ED ke skupin\u011B NBIA. S metabolizmem \u017Eeleza souvis\u00ED i dal\u0161\u00ED syst\u00E9mov\u00E1 onemocn\u011Bn\u00ED, nap\u0159. hemochromat\u00F3za. \u010Cl\u00E1nek uv\u00E1d\u00ED charakteristiku, klinick\u00E9 projevy spole\u010Dn\u011B s mo\u017Enostmi diagnostiky a diferenci\u00E1ln\u00ED diagnostiky t\u011Bchto chorob." . . "1"^^ .