Characteristic cerebral perfusion pattern in neuronal intranuclear inclusion disease

Area of Science:

• Neuroscience
• Radiology
• Genetics

Background:

• Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder linked to GGC repeat expansion in the NOTCH2NLC gene.
• Its pathogenesis remains poorly understood, though dynamic cortical perfusion changes have been observed.

Purpose of the Study:

• To investigate the cerebral perfusion patterns in patients diagnosed with NIID.
• To correlate perfusion changes with cognitive function and disease severity.

Main Methods:

• 38 NIID patients and 34 healthy controls underwent 3D pseudo-continuous arterial spin labeling MRI.
• Voxel-based analysis compared cerebral blood flow (CBF) between groups.
• Demographic and clinical data were collected.

Main Results:

• NIID patients exhibited significant hypoperfusion in cortical regions and hyperperfusion in deep brain areas compared to controls.
• Hypoperfusion was prominent in the bilateral frontal, temporal, parietal, and occipital gyri.
• Hyperperfusion was observed in the basal ganglia, midbrain, pons, and cerebellum, among other regions.
• Perfusion in the frontal lobe and cingulate gyrus correlated with cognitive scores (MMSE, MoCA).

Conclusions:

• NIID is characterized by distinct patterns of cortical hypoperfusion and deep brain hyperperfusion.
• Cerebral perfusion alterations are implicated in NIID pathophysiology.
• Perfusion patterns may serve as biomarkers for monitoring NIID severity and progression.