Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry
Pathogenicity of the <i>VPS13A</i> variants is confirmed by absence of chorein, long-term follow up is required to evaluate any synergistic impact of for the underlying CANVAS mutation. New generation ektacytometry provides an objective measurement of erythrocytes' rheological properties and may serve as a complement to blood smears. Finally, ektacytometry's ability to detect deformability of erythrocytes in NA seems to depend on the degree of acanthocytosis.
Authors
- Josephine Wincent (ORCID: https://orcid.org/0000-0002-1698-9605)
- Kevin Peikert (ORCID: https://orcid.org/0000-0002-0845-2453)
- Per Svenningsson (ORCID: https://orcid.org/0000-0001-6727-3802)
- Martin Paucar (ORCID: https://orcid.org/0000-0003-3735-1480)
- Stellan Hertegård (ORCID: https://orcid.org/0000-0002-9918-6655)
- Charlotta Rubin
- Soheir Beshara (ORCID: https://orcid.org/0009-0003-6581-0696)
- Josefin Kyhle
- Riita Möller
Institutions
- Karolinska University Hospital (SE)
- Karolinska Institutet (SE)
- University of Rostock (DE)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2024-10-02
- DOI
- https://doi.org/10.3389/fnins.2024.1409366
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Stiftelsen Promobilia