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Exploring 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.
Neuroacanthocytosis: Case report and neuroimaging findings.
Radiol Case Rep
January 2025
Universidade Federal do Rio de Janeiro - R. Prof. Rodolpho Paulo Rocco, 255 - Cidade Universitária, Rio de Janeiro, RJ 21941-617, Brazil.
Neuroacanthocytosis syndromes are rare inherited neurodegenerative disorders, characterized by the presence of acanthocytes. Among them, Choreoacanthocytosis and McLeod syndrome stand out, sharing similarities with Huntington's disease, including choreic movement disorders, psychiatric symptoms, and cognitive decline. The case described involves a 36-year-old patient with cognitive deficits, involuntary movements, and ataxic gait.
View Article and Find Full Text PDFClinical 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.
Treatment of a lip defect in a patient with chorea-acanthocytosis using a combination of surgical and adjuvant onabotulinumtoxinA therapy: a case report.
Arch Craniofac Surg
October 2024
Department of Plastic and Reconstructive Surgery, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea.
Chorea-acanthocytosis (ChAc) is an extremely rare neurodegenerative disorder characterized by movement disorders and acanthocytosis. Orofacial dyskinesia is a distinct symptom of this disorder that can lead to lip injuries and feeding difficulties. This paper reports the first case of a patient with ChAc presenting with a lip defect, who was managed with surgical and adjuvant onabotulinumtoxinA (BTX-A) therapy.
View Article and Find Full Text PDFCase report: Clinical, genetic and immunological characterization of a novel variant in a patient with McLeod syndrome.
Front Genet
August 2024
Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Pathogenic variants in the gene are associated with dysfunction or loss of XK protein leading to McLeod syndrome (MLS), a rare X-linked neuroacanthocytosis syndrome with multisystemic manifestation. Here we present clinical, genetic and immunological data on a patient originally admitted to our clinic for presumed post-COVID-19 syndrome, where thorough clinical work-up revealed a novel frameshift deletion in causal for the underlying phenotype. We additionally review the clinicogenetic spectrum of reported McLeod cases in the literature.
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