Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea-Acanthocytosis.

Gabriel Miltenberger-Miltenyi,Attila Jones,Amber M Tetlow,Vasco A Conceição,John F Crary,Ricky Michael Ditzel,Kurt Farrell,Renu Nandakumar,Brandon Barton,Barbara I Karp,Alana Kirby,Debra J Lett,Karin Mente,Susan Morgello,David K Simon,Ruth H Walker

Movement disorders : official journal of the Movement Disorder Society（2023）

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Abstract

We present the first evidence of altered sphingolipid and phospholipid levels in the brains of patients with ChAc. Our observations are congruent with recent findings in cellular and animal models, and implicate defects of lipid processing in VPS13A disease pathophysiology. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

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Key words

chorea-acanthocytosis, VPS13A, sphingolipids, phospholipids, brain

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