MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency

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20 Oct 2026 0 comments

BACKGROUND AND OBJECTIVES: NGLY1 (N-Glycanase 1) deficiency is an ultrarare autosomal recessive disorder affecting ~165 patients worldwide, characterized by developmental delay, hyperkinetic movement disorders and shortened life expectancy. Despite its severe neurological manifestations, comprehensive neuroimaging characterization has been limited to case reports and small descriptive studies. Our objective was to investigate alterations in brain morphology in patients with NGLY1 deficiency and...