Front Neurol
Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, China.
Published: November 2024
disease (also known as Chorea-Acanthocytosis, ChAc) is a representative subtype of the neuroacanthocytosis (NA) syndromes, characterized by neurodegeneration in the central nervous system and acanthocytosis in peripheral blood. It is a rare autosomal recessive genetic disorder caused by loss-of-function variants in the VPS13A gene, which is currently the only known pathogenic gene for ChAc. VPS13A protein is a member of novel bridge-like lipid transfer proteins family located at membrane contact sites, forming direct channels for lipid transport. The specific mechanism underlying how the loss of VPS13A function leads to the hematological and neurological phenotypes of the disease remains unclear. Here we present a review of recent studies on VPS13A protein and ChAc, focusing on the potential role of the VPS13A protein in pathophysiology of ChAc and also review the known and potential wet biomarkers of ChAc to enhance our comprehension of this rare disease.
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http://dx.doi.org/10.3389/fneur.2024.1482936 | DOI Listing |
Mov Disord
December 2024
Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Rostock, Germany.
Background: VPS13A disease is an ultra-rare disorder caused by loss of function mutations in VPS13A characterized by striatal degeneration and by red blood cell (RBC) acanthocytosis. VPS13A is a bridge-like protein mediating lipid transfer at membrane contact sites.
Objectives: To assess the lipid composition of patient-derived RBCs.
Front Neurol
November 2024
Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, China.
New Phytol
February 2025
Graduate School of Agricultural and Life Sciences, University of Tokyo, Tokyo, 113-8657, Japan.
Pollen has an extraordinary ability to convert from a dry state to an extremely rapidly growing state. During pollination, pollen receives water and Ca from the contacting pistil, which will be a directional cue for pollen tube germination. The subsequent rapid activation of directional vesicular transport must support the pollen tube growth, but the molecular mechanism leading to this process is largely unknown.
View Article and Find Full Text PDFNeurol 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.
Prostate Cancer Prostatic Dis
November 2024
Division of Surgery and Interventional Science, University College London, London, UK.
Background: Serum PSA and digital rectal examination remain the key diagnostic tools for detecting prostate cancer. However, due to the limited specificity of serum PSA, the applicability of this marker continues to be controversial. Recent use of image-guided biopsy along with pathological assessment and the use of biomarkers has dramatically improved the diagnosis of clinically significant cancer.
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