Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A11494" target="_blank" >RIV/00216208:11110/12:11494 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/12:11494
Result on the web
<a href="http://dx.doi.org/10.1016/j.ejpn.2011.08.006" target="_blank" >http://dx.doi.org/10.1016/j.ejpn.2011.08.006</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients
Original language description
Alternating hemiplegia of childhood (AHC) is a rare disorder with diagnosis based on clinical criteria, as no laboratory, neuroradiological or genetic markers are currently available. The pathogenic mechanisms are still an enigma. Some hypotheses have been proposed such as hemiplegic migraine variant, epileptic mechanism, channelopathy and mitochondrial disorder, but none of these has been confirmed. Our aim was to analyze the results of metabolic studies performed on a series of 157 European patients who fulfilled diagnostic criteria for AHC. We tried to find a common metabolic abnormality, related with AHC. We did not find significant abnormalities in basic metabolic screening, at different ages. Neurotransmitters in cerebrospinal fluid (n = 26) werenormal in all of the patients. Mitochondrial respiratory chain enzyme activities were analyzed in 19 muscle biopsies; in 4 cases, different MRC enzyme deficiencies were demonstrated, ranging from mild-unspecific deficiencies to more prof
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Result continuities
Project
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Continuities
R - Projekt Ramcoveho programu EK
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Paediatric Neurology
ISSN
1090-3798
e-ISSN
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Volume of the periodical
16
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
5
Pages from-to
10-14
UT code for WoS article
000299449800003
EID of the result in the Scopus database
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