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Abstract #2982

Reduced gamma-aminobutyric acid concentration is associated with physical disability in s Wilson disease

Xiangjie Wang1, Na Tan1, Zhijie Su1, Liwei Fu1, and Rui Xu1
1Department of Medical Imaging, Guizhou Provincial People's Hospital, Guiyang, China

Synopsis

Keywords: Other Neurodegeneration, Brain

Motivation: To understand how abnormal copper metabolism affects the CSTC(Cortico-Striatal-Thalamo-Cortical) pathway in patients with neurological Wilson disease

Goal(s): To explore brain GABA level alterations in patients with neurologic Wilson disease compared to healthy controls.

Approach: Thirteen WD patients and eleven healthy controls underwent MRS on a 3.0T scanner, with GABA signals acquired from the left striatum and thalamus using MEGA-PRESS.

Results: For every one-unit decrease in GABA levels in the left striatum, the UWDRS decreased by 19.97. No changes were observed in the left thalamus.

Impact: These findings improve our understanding of WD and its severity. Future research should explore how copper chelation therapy affects CSTC pathways and whether restoring GABAergic function can help alleviate neurological deficits.

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