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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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Principais autores: Martin Paucar, Josephine Wincent, Charlotta Rubin, Kevin Peikert, Josefin Kyhle, Stellan Hertegård, Riita Möller, Soheir Beshara, Per Svenningsson
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2024-10-01
coleção:Frontiers in Neuroscience
Assuntos:
neuroacanthocytosis
ektacytometry
VPS13A
VPS13A disease
feeding dystonia
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fnins.2024.1409366/full
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