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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 PDFCase 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.
The protean presentations of XK disease (McLeod syndrome): a case series with new observations and updates on previously reported families.
Front Neurosci
September 2024
Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
XK disease is a very rare, multi-system disease, which can present with a wide spectrum of symptoms. This disorder can also be identified pre-symptomatically with the incidental detection of serological abnormalities when typing erythrocytes in peripheral blood, or on other routine laboratory testing. Increasing awareness of this disorder and improved access to genetic testing are resulting in increasing identification of affected patients and families.
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