7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous PANK2 Mutation Carriers

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10288775" target="_blank" >RIV/00216208:11110/14:10288775 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/14:10288775

Result on the web

<a href="http://dx.doi.org/10.1002/mdc3.12080" target="_blank" >http://dx.doi.org/10.1002/mdc3.12080</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/mdc3.12080" target="_blank" >10.1002/mdc3.12080</a>

Result language

angličtina

Original language name

7-Tesla Magnetic Resonance Imaging for Brain Iron Quantification in Homozygous and Heterozygous PANK2 Mutation Carriers

Original language description

Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by iron deposits in basal ganglia. The aim of this study was to quantify iron concentrations of deep gray matter structures in heterozygous PANK2 mutation carriers and in PKAN patients using quantitative susceptibility mapping MRI. By determining iron concentration, we intended to find mutation-specific brain parenchymal stigmata in heterozygous PANK2 mutation carriers in comparison to age-matched healthy volunteers. We studied 11 heterozygous PANK2 gene mutation carriers (mean age: 43.4 years; standard deviation [SD]: 10.5), who were found to be clinically asymptomatic by neurological examination. These carriers were compared to 2 clinically affected PKAN patients 21 and 32 years of age and to 13 age-matched, healthy controls (mean age: 39.7; SD, 13.6). Scanning was performed on a 7.0-Tesla whole-body scanner applying three-dimensional susceptibility-weighted gradient echo acquisit

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

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2014

Confidentiality

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

Name of the periodical

Movement Disorders Clinical Practice

ISSN

2330-1619

e-ISSN

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Volume of the periodical

1

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

7

Pages from-to

329-335

UT code for WoS article

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EID of the result in the Scopus database

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