Case report: Neuroacanthocytosis associated with novel variants in the

Background and objectives

The diseases historically known as neuroacanthocytosis (NA) conditions include

Methods

Investigations included clinical assessments, neuroimaging studies, laboratory analyses, blood smears, ektacytometry, psychometric evaluation, and genetic analyses. Using ektacytometry, an osmoscan curve is obtained yielding a diffraction pattern as a measure of average erythrocyte deformability from circular at rest to elliptical at a high shear stress. The pattern allows the derivation of several parameters (mainly EI-max, O-min and O-Hyper points). Samples from two other patients with genetically proven

Case presentation

The patient has impulsivity, chorea and disabling feeding dystonia refractory to treatment and 15% acanthocytes in peripheral blood. Genetic workup revealed compound heterozygous variants c.1732_1733del; p.(V578Ffs*9) and c.8282C > A, p.(S2761*) in

Conclusion

Pathogenicity of the

Informations de copyright

Copyright © 2024 Paucar, Wincent, Rubin, Peikert, Kyhle, Hertegård, Möller, Beshara and Svenningsson.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.