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Case report: Neuroacanthocytosis associated with novel variants in the gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry.
Front Neurosci
October 2024
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Article Synopsis
- The study focuses on neuroacanthocytosis diseases, specifically a patient presenting with hyperkinetic symptoms linked to genetic variants affecting erythrocyte deformability and acanthocyte presence in blood.
- A comprehensive assessment was conducted using various methods, including ektacytometry, clinical evaluations, and genetic analysis to understand the patient's condition better and identify potential variants.
- The findings indicated reduced erythrocyte deformability in the patient with neuroacanthocytosis and revealed a unique ektacytometry pattern that differentiates it from other forms of acanthocytosis.
Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.
Mol Genet Genomic Med
September 2020
Neurologische Klinik und Poliklinik, Ludwigs-Maximilians Universität München, Munich, Germany.
Background: Chorea-acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein. Several diagnostic genomic DNA (gDNA) sequencing approaches are widely used. However, their limitations appear not to be acknowledged thoroughly enough.
View Article and Find Full Text PDFChorein Deficiency and Alzheimer Disease: An Intriguing, Yet Premature Speculation.
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Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.
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