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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Hlavní autoři:	Martin Paucar, Josephine Wincent, Charlotta Rubin, Kevin Peikert, Josefin Kyhle, Stellan Hertegård, Riita Möller, Soheir Beshara, Per Svenningsson
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2024-10-01
Edice:	Frontiers in Neuroscience
Témata:	neuroacanthocytosis ektacytometry VPS13A VPS13A disease feeding dystonia
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fnins.2024.1409366/full
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