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...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Martin Paucar, Josephine Wincent, Charlotta Rubin, Kevin Peikert, Josefin Kyhle, Stellan Hertegård, Riita Möller, Soheir Beshara, Per Svenningsson
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Frontiers Media S.A. 2024-10-01
سلاسل:	Frontiers in Neuroscience
الموضوعات:	neuroacanthocytosis ektacytometry VPS13A VPS13A disease feeding dystonia
الوصول للمادة أونلاين:	https://www.frontiersin.org/articles/10.3389/fnins.2024.1409366/full
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!