Article

MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency

2026-04-04

Abstract excerpt

<h4>Key Points</h4> <h4>Question</h4> Is NGLY1 Deficiency associated with consistent alterations in brain structure and do these alterations relate to clinical phenotypes? <h4>Findings</h4> In this case series of 11 patients with NGLY1 Deficiency, MRI brain scans revealed significant subcortical volume reductions across patient age groups, particularly in the thalamus, caudate, and putamen. Younger patients (<3...

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Literature Corpus work: bc6b40f5-9851-5f4c-a0f4-204c606b4caf
DOI: 10.64898/2026.03.30.26348623

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