Neurodegeneration with brain iron accumulation

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A11492" target="_blank" >RIV/00216208:11110/12:11492 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/12:11492

Výsledek na webu

<a href="http://dx.doi.org/10.1097/WCO.0b013e3283550cac" target="_blank" >http://dx.doi.org/10.1097/WCO.0b013e3283550cac</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Neurodegeneration with brain iron accumulation

Popis výsledku v původním jazyce

Purpose of review Recent years have witnessed the discoveries of several genes causing neurodegeneration with brain iron accumulation (NBIA) and subsequently their novel classification scheme was suggested. The first results of treatments with modern chelating drugs are also being published. Recent findings Most recently, mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from hitherto unknown NBIA presenting with a clinical phenotype similar to pantothenate kinase-associated neurodegeneration (PKAN) but with a slightly later onset. A case study has shown that mutations in the fatty-acid 2-hydroxylase gene may lead to various phenotypes combining the features of leukodystrophy and NBIA, supporting that abnormal metabolism of myelin and iron accumulation may have a common cause. A phase-II pilot study did not find any clinical improvement after chelating treatment in a group of PKAN patients. However, benefits of che

Název v anglickém jazyce

Neurodegeneration with brain iron accumulation

Popis výsledku anglicky

Purpose of review Recent years have witnessed the discoveries of several genes causing neurodegeneration with brain iron accumulation (NBIA) and subsequently their novel classification scheme was suggested. The first results of treatments with modern chelating drugs are also being published. Recent findings Most recently, mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from hitherto unknown NBIA presenting with a clinical phenotype similar to pantothenate kinase-associated neurodegeneration (PKAN) but with a slightly later onset. A case study has shown that mutations in the fatty-acid 2-hydroxylase gene may lead to various phenotypes combining the features of leukodystrophy and NBIA, supporting that abnormal metabolism of myelin and iron accumulation may have a common cause. A phase-II pilot study did not find any clinical improvement after chelating treatment in a group of PKAN patients. However, benefits of che

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

<a href="/cs/project/NT12282" target="_blank" >NT12282: Patofyziologické mechanismy neuromodulační léčby u dystonií</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Current opinion in neurology

ISSN

1350-7540

e-ISSN

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Svazek periodika

25

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

499-506

Kód UT WoS článku

000306125900016

EID výsledku v databázi Scopus

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