期刊
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
卷 79, 期 10, 页码 1065-1071出版社
OXFORD UNIV PRESS INC
DOI: 10.1093/jnen/nlaa070
关键词
Cerebellum; Infantile neuronal intranuclear inclusion disease; Neuropathology; NOTCH2NLC; Trinucleotide repeat expansions
资金
- Ministry of Health of the Czech Republic [NV19-08-137]
- OPPK [CZ.2.16/3.1.00/24509]
- Charles University institutional programs [UNCE 204064, SVV2016/260148, PROGRES Q26, PROGRES Q39]
- Ministry of Health [RVO VFN64165]
- National Center for Medical Genomics [LM2018132]
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.
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