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NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease
I. Jedlickova, A. Pristoupilova, H. Hulkova, A. Vrbacka, V. Stranecky, E. Hruba, P. Jesina, T. Honzik, I. Hrdlicka, J. Fremuth, K. Pivovarcikova, I. Bitar, R. Matej, S. Kmoch, J. Sikora
Language English Country Great Britain
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
NLK
ProQuest Central
from 2017-01-01 to 1 year ago
Open Access Digital Library
from 1942-01-01
Health & Medicine (ProQuest)
from 2017-01-01 to 1 year ago
PubMed
32827029
DOI
10.1093/jnen/nlaa070
Knihovny.cz E-resources
- MeSH
- Biopsy MeSH
- Child MeSH
- Intranuclear Inclusion Bodies genetics pathology MeSH
- Infant MeSH
- Skin pathology MeSH
- Humans MeSH
- Spinal Cord pathology MeSH
- Brain pathology MeSH
- Neurodegenerative Diseases diagnosis genetics pathology MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Receptor, Notch2 genetics MeSH
- Trinucleotide Repeats genetics MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder categorized into 3 phenotypic variants: infantile, juvenile, and adult. Four recent reports have linked NIID to CGG expansions in the NOTCH2NLC gene in adult NIID (aNIID) and several juvenile patients. Infantile NIID (iNIID) is an extremely rare neuropediatric condition. We present a 7-year-old male patient with severe progressive neurodegenerative disease that included cerebellar symptoms with cerebellar atrophy on brain MRI, psychomotor developmental regression, pseudobulbar syndrome, and polyneuropathy. The diagnosis of iNIID was established through a postmortem neuropathology work-up. We performed long-read sequencing of the critical NOTCH2NLC repeat motif and found no expansion in the patient. We also re-evaluated an antemortem skin biopsy that was collected when the patient was 2 years and 8 months old and did not identify the intranuclear inclusions. In our report, we highlight that the 2 methods (skin biopsy and CGG expansion testing in NOTCH2NLC) used to identify aNIID patients may provide negative results in iNIID patients.
Biomedical Center Faculty of Medicine in Pilsen Charles University Czech Republic
Department of Pediatrics and Adolescent Medicine Research Unit for Rare Diseases
References provided by Crossref.org
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