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Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.
Cardiol Young
January 2025
Loma Linda Children's Hospital, Department of Pediatric Cardiology, Loma Linda, CA, USA.
Dilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.
View Article and Find Full Text PDFExploring the pathophysiological mechanisms and wet biomarkers of disease.
Front Neurol
November 2024
Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, China.
Article Synopsis
- Chorea-Acanthocytosis (ChAc) is a rare genetic disorder characterized by neurodegeneration in the brain and abnormal red blood cells, caused by mutations in the VPS13A gene.
- The VPS13A protein plays a crucial role in lipid transfer between cell membranes, but its exact function and how its loss leads to the disease symptoms remain unclear.
- Recent studies are exploring the role of VPS13A in the disease's development and potential biomarkers that could improve understanding and diagnosis of ChAc.
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.
Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.
Mol Genet Genomic Med
September 2024
Research Centre for Intelligent Healthcare, Faculty of Health and Life Sciences, Coventry University, Coventry, UK.
Article Synopsis
- The study focuses on McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc), which are rare movement disorders, emphasizing the importance of genetic analysis for proper diagnosis.
- Eighteen Chinese patients with chorea who tested negative for a specific genetic marker were analyzed using next-generation sequencing, uncovering new genetic variants related to MLS and ChAc.
- This research expands understanding of the genetic and clinical aspects of these disorders, aiding in the diagnosis and understanding of MLS and ChAc in the Chinese population.
Identification of pivotal genes and pathways in Chorea-acanthocytosis using comprehensive bioinformatic analysis.
PLoS One
September 2024
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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