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Evolutionary implications of NOTCH2NLC mutations: brain structural changes in neuronal intranuclear inclusion disease
Si Shen1, Hong-Fei Tai1,2, Songtao Niu1,2
1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.
Brain Communications
|July 3, 2026
Summary
Neuronal intranuclear inclusion disease (NIID) linked to NOTCH2NLC gene mutations causes widespread brain structural changes, particularly in the prefrontal cortex and cerebellum, impacting brain development and neurodegeneration.
Area of Science:
- Neuroscience
- Genetics
- Evolutionary Biology
Background:
- Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder.
- The human-specific NOTCH2NLC gene is implicated in NIID pathogenesis.
- Understanding brain changes in NIID offers insights into human brain evolution.
Purpose of the Study:
- Investigate brain structural alterations in NIID patients with NOTCH2NLC mutations.
- Explore evolutionary implications of NOTCH2NLC in human brain development.
- Correlate structural changes with clinical variables.
Main Methods:
- Voxel-based morphometry and surface-based morphometry on 41 NIID patients and 21 controls.
- Analysis of grey matter volume, cortical thickness, and complexity.
- Spearman correlation analyses with clinical data (GGC repeat length, age, cognition).
Main Results:
- NIID patients showed significant grey matter reduction and cortical thinning, especially in the prefrontal cortex and cerebellum.
- Altered gyrification and fractal dimension observed in parietal, insular, and temporal/frontal lobes.
- White matter hyperintensities and CSF fraction correlated negatively with grey matter volume in several brain regions.
Conclusions:
- NIID involves extensive, complex cerebral structural changes affecting prefrontal cortex, cerebellum, insula, and limbic system.
- Findings support the hypothesis that genes promoting cortical expansion may increase vulnerability to neurodegeneration.
- This study provides neuroanatomical insights into NIID and human-specific gene evolution.
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