We report on a case of Chorea-acanthocytosis (ChAc) in association with Tourettism that consisted of motor and vocal tics, attention deficit-hyperactivity disorder, and obsessive-compulsive disorder in addition to the typical symptoms of ChAc. The subject was compared with his elder sister who had the same disease but milder clinical profile and neuroradiological findings. The [(18)F]-2-fluoro-2-deoxyglucose positron emission tomography (FDG-PET) findings did not explain the differences in symptomatology between the patient and his sister, although they may have correlated with severity.
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A novel cryptic splice donor due to synonymous variant in as an underlying cause of a chorea-acanthocytosis in a large family.
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Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University Madinah, Saudi Arabia.
Chorea-acanthocytosis (ChAc) is a rare inherited disease of the nervous system. In this disease the neurological manifestations are associated with acanthocytosis of the red blood cells. The clinical features appear in the third to fourth decades of life.
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Ferroptosis is a type of programmed cell death owed to an intracellular accumulation of iron resulting in the generation reactive oxygen species, which in turn can cause peroxidation of plasma membrane lipids and ultimately result in cell death. We investigated the potential involvement of VPS13A deficiency in ferroptosis. The VPS13A gene encodes for chorein, and its deficiency is a molecular cause of chorea-acanthocytosis (ChAc), a Huntington-like disease with neurodegeneration in the striatum.
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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.
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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 pivotal genes and pathways in Chorea-acanthocytosis using comprehensive bioinformatic analysis.
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Department of Translational Medicine, Clinical Research Centre, Skåne University Hospital, Lund University, Malmö, Sweden.
Chorea-acanthocytosis (ChAc), an autosomal recessive disorder, is associated with cognitive and behavioral abnormalities. Previous studies were focused around exploring the functional annotation of VPS13A gene in ChAc, whereas the genetic labyrinth underlying this disease and plausible drug targets were underexplored. In the present study, we have identified the pivotal genes and molecular pathways implicated in ChAc using comprehensive bioinformatics analysis.
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