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April 1, 2024Neurology GeneticsOpen Access

Review of Phenotypic Heterogeneity of Neuronal Intranuclear Inclusion Disease and NOTCH2NLC -Related GGC Repeat Expansion Disorders

Tao Zhang Lei Bao Hao Chen

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Abstract

Neuronal intranuclear inclusion disease (NIID) is an underdiagnosed neurodegenerative disorder caused by pathogenic GGC expansions in

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Zhang et al. (2024) studied this question.

synapsesocial.com/papers/68e70da3b6db643587687466 https://doi.org/10.1212/nxg.0000000000200132

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Neuronal intranuclear inclusion disease caused by NOTCH2NLC gene expansion: a case report and literature reviewCase Report · 2026
2Subclinical peripheral nerve demyelination without overt symptoms in a family with neuronal intranuclear inclusion disease harboring biallelic repeat expansionsOriginal Research · 2026
3NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse modelOriginal Research · 2026
4Precise excision of expanded GGC repeats in NOTCH2NLC via CRISPR/Cas9 for treating neuronal intranuclear inclusion diseaseOriginal Research · 2026 · 2 citations
5A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion DiseaseOriginal Research · 2026