Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10427922" target="_blank" >RIV/00216208:11110/21:10427922 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/21:10427922
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=AnfmpDhZCx" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=AnfmpDhZCx</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/acn3.51332" target="_blank" >10.1002/acn3.51332</a>
Alternative languages
Result language
angličtina
Original language name
Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?
Original language description
Chen et al. have demonstrated lack of abnormal CGG expansions in the NOTCH2NLC gene among European juvenile and adult patients with neuronal intranuclear inclusion disease (jNIID and aNIID). Genetic heterogeneity of NIID was suggested based on the discrepancy of these results and earlier findings in East Asian patients. We recently studied NOTCH2NLC CGG repeats in an infantile NIID (iNIID) patient independently of Chen et al. This Caucasian European boy is the first, and thus far only, iNIID patient who has been tested for this molecular pathology. The number of repeats in this patient corresponded to values found in healthy controls. We believe that these data provide further evidence for genetic heterogeneity of NIID. It is, however, important to highlight that our results do not, at this point, allow conclusions about genetic causes of NIID among European patients of all age groups or about genetic causes of iNIID.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
<a href="/en/project/NV19-08-00137" target="_blank" >NV19-08-00137: The application of new methods of genomic analysis in cases of rare genetic based diseases with negative results of genetic and genomic analyses.</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Annals of Clinical and Translational Neurology [online]
ISSN
2328-9503
e-ISSN
—
Volume of the periodical
8
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
994-1001
UT code for WoS article
000634321700001
EID of the result in the Scopus database
2-s2.0-85103225628