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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.
Heliyon
October 2024
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.
View Article and Find Full Text PDFNovel Biallelic Synonymous Exonic Variant in Affecting mRNA Splicing: Case Report.
Neurol Genet
December 2024
From the Department of Neurology (R.H.M.H., K.S.S.T., N.C.K.T., S.N., Z.C.), National Neuroscience Institute (Tan Tock Seng Hospital Campus); Departments of Anatomical Pathology (Y.Z.), and Clinical Translational Research (H.L.O.), Singapore General Hospital; Departments of Laboratory Medicine (M.J.Y.K.), and Haematology (B.E.F.), Tan Tock Seng Hospital; Lee Kong Chian School of Medicine (B.E.F.), Nanyang Technological University, Singapore; Translational Neurodegeneration Section "Albrecht Kossel" (K.P., A.H.), Department of Neurology, Rostock University Medical Center, University of Rostock; Center for Transdisciplinary Neurosciences Rostock (CTNR) (K.P., A.H.), University Medical Center Rostock; United Neuroscience Campus Lund-Rostock (UNC) (K.P., A.H.); and Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald (A.H.), Germany.
Objectives: Chorea-acanthocytosis is an autosomal recessively inherited condition caused by loss-of-function pathogenic variants in . We identified a novel synonymous exonic variant leading to abnormal mRNA splicing in a patient with chorea-acanthocytosis.
Methods: A patient with focal epilepsy developed generalized chorea with orolingual dystonia, cognitive decline, and peripheral neuropathy, consistent with chorea-acanthocytosis.
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 PDFLong-term subclinical severe hyperCKemia associated with a rare VPS13A gene mutation in an Iranian patient: Case report.
Curr J Neurol
January 2024
Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
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.
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