Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry

Background and objectivesThe diseases historically known as neuroacanthocytosis (NA) conditions include VPS13A disease (formerly chorea-acanthocytosis) and XK disease (formerly McLeod syndrome). Here we report a patient with a hyperkinetic syndrome associated with variants in VPS13A with a concomita...

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Bibliographic Details

Published in:	Frontiers in Neuroscience
Main Authors:	Martin Paucar, Josephine Wincent, Charlotta Rubin, Kevin Peikert, Josefin Kyhle, Stellan Hertegård, Riita Möller, Soheir Beshara, Per Svenningsson
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-10-01
Subjects:	neuroacanthocytosis ektacytometry VPS13A VPS13A disease feeding dystonia
Online Access:	https://www.frontiersin.org/articles/10.3389/fnins.2024.1409366/full