NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease
Language English Country Great Britain, England Media print
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
PubMed
32827029
DOI
10.1093/jnen/nlaa070
PII: 5895575
Knihovny.cz E-resources
- Keywords
- NOTCH2NLC, Cerebellum, Infantile neuronal intranuclear inclusion disease, Neuropathology, Trinucleotide repeat expansions,
- 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
- Names of Substances
- NOTCH2 protein, human MeSH Browser
- Receptor, Notch2 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
Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?
