Neurodegeneration with brain iron accumulation

Result code in 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>

Alternative codes found

RIV/00064165:_____/12:11492

Result on the web

<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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Result language

angličtina

Original language name

Neurodegeneration with brain iron accumulation

Original language description

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

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT12282" target="_blank" >NT12282: Pathophysiological mechanisms of neuromodulation therapy in dystonia</a><br>

Continuities

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

Publication year

2012

Confidentiality

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

Name of the periodical

Current opinion in neurology

ISSN

1350-7540

e-ISSN

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Volume of the periodical

25

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

499-506

UT code for WoS article

000306125900016

EID of the result in the Scopus database

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