412 results match your criteria: "Neuroacanthocytosis"
Front Neurol
November 2024
Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, China.
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.
View Article and Find Full Text PDFRadiol 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 PDFLancet
October 2024
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Dev Growth Differ
October 2024
Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany.
Mitochondria are unique organelles that have their own genome (mtDNA) and perform various pivotal functions within a cell. Recently, evidence has highlighted the role of mitochondria in the process of stem cell differentiation, including differentiation of neural stem cells (NSCs). Here we studied the importance of mtDNA function in the early differentiation process of NSCs in two cell culture models: the CGR8-NS cell line that was derived from embryonic stem cells by a lineage selection technique, and primary NSCs that were isolated from embryonic day 14 mouse fetal forebrain.
View Article and Find Full Text PDFFront Neurosci
October 2024
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Mol Genet Genomic Med
September 2024
Research Centre for Intelligent Healthcare, Faculty of Health and Life Sciences, Coventry University, Coventry, UK.
Background: McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including chorea, dystonia, and Parkinsonism. Genetic analysis plays a key role in early and accurate diagnosis, but relevant variants are still under investigation. This study aims to explore new pathogenic variants in Chinese patients with MLS and ChAc and to conduct a comprehensive analysis of the clinical heterogeneity among these patients.
View Article and Find Full Text PDFPLoS 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.
View Article and Find Full Text PDFArch 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 PDFFront 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.
View Article and Find Full Text PDFOrphanet J Rare Dis
August 2024
Department of Neurology, University Hospital Zurich, Frauenklinikstrasse 26, 8091, Zurich, Switzerland.
Introduction: We present a systematic review of phenotypes of McLeod syndrome (MLS) and a case of a 73-year-old female carrier of the genetic alteration leading to MLS with the typical progressive supranuclear palsy (PSP) phenotype.
Methods: To facilitate clinical reasoning and enable targeted diagnosis, we conducted a systematic review of the papers describing symptomatic cases of confirmed McLeod syndrome. This review follows the PRISMA 2020 statement: an updated guideline for reporting systematic reviews (Page et al in Syst Rev 10(1):89, 2021).
Front Neurosci
July 2024
Dynamics of Fluids, Experimental Physics, Saarland University, Saarbrücken, Germany.
Introduction: The unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted the exploration of osmotic gradient ektacytometry (Osmoscan) as a diagnostic tool for these disorders. In this exploratory study, we assessed if Osmoscans can discriminate NAS from other neurodegenerative diseases.
Methods: A comprehensive assessment was conducted using Osmoscan on a diverse group of patients, including healthy controls ( = 9), neuroacanthocytosis syndrome patients ( = 6, 2 VPS13A and 4 XK disease), Parkinson's disease patients ( = 6), Huntington's disease patients (n = 5), and amyotrophic lateral sclerosis patients ( = 4).
Int J Mol Sci
July 2024
Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata 951-8510, Japan.
The gene encodes a lipid transfer protein called VPS13A, or chorein, associated with mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), mitochondria-endosomes, and lipid droplets. This protein plays a crucial role in inter-organelle communication and lipid transport. Mutations in the gene are implicated in the pathogenesis of chorea-acanthocytosis (ChAc), a rare autosomal recessive neurodegenerative disorder characterized by chorea, orofacial dyskinesias, hyperkinetic movements, seizures, cognitive impairment, and acanthocytosis.
View Article and Find Full Text PDFCureus
June 2024
Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, IND.
Neuroacanthocytosis (NA) syndromes are a group of rare genetic disorders characterized by the presence of abnormally shaped red blood cells (acanthocytes) and the progressive degeneration of the basal ganglia, leading to various neurological and systemic symptoms. The "rubber man" gait, characterized by distinctive flexions of the neck (manifesting as head drops) and the trunk, is seen in advanced chorea-acanthocytosis. A 35-year-old male patient presented with progressive abnormal movements affecting his limbs and face, along with dysphagia resulting from involuntary protrusion of the tongue and biting of the cheeks and lips over the past three years.
View Article and Find Full Text PDFAm J Case Rep
July 2024
Department of Hematology/Oncology, University of California, San Francisco-Fresno, Fresno, CA, USA.
BACKGROUND Morvan fibrillary chorea (Morvan syndrome) is a rare disorder marked by a collection of neurological symptoms such as myokymia, peripheral nerve excitability, neuromyotonia, autonomic instability, memory impairment, and delirium. Morvan syndrome is suspected to occur through antibodies directed against voltage gated potassium channels (VGKC), and has been linked with several autoimmune conditions and hematologic malignancies. We present a case of Morvan syndrome in association with monoclonal B cell lymphocytosis.
View Article and Find Full Text PDFPhysiol Res
April 2024
Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.
This comprehensive review explores the physiological and pathophysiological significance of VPS13A, a protein encoded by the VPS13A gene. The VPS13A gene is associated with Chorea-acanthocytosis (ChAc), a rare hereditary neurodegenerative disorder. The review covers essential aspects, beginning with the genetics of VPS13A, highlighting its role in the pathogenesis of ChAc, and addressing the spectrum of genetic variants involved.
View Article and Find Full Text PDFMol Genet Genomics
March 2024
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by a variety of involuntary movements, predominantly chorea, and the presence of acanthocytosis in peripheral blood smears. ChAc is caused by mutations in the vacuolar protein sorting-associated protein 13A (VPS13A) gene. The aim of the present study was to conduct a clinical and genetic analysis of five patients with suspected ChAc in Iran.
View Article and Find Full Text PDFA middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history.
View Article and Find Full Text PDFJ Mov Disord
April 2024
Center for Neurological Restoration, Cleveland Clinic, Cleveland, OH, USA.
Front Neurosci
December 2023
Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, United States.
The recent discovery that defects in inter-organelle lipid transport are at the heart of several neurological and neurodegenerative disorders raises the challenge of identifying therapeutic strategies to correct lipid transport defects. This perspective highlights two potential strategies suggested by the study of lipid transport in budding yeast. In the first approach, small molecules are proposed that enhance the lipid transfer activity of proteins and thereby compensate for reduced transport.
View Article and Find Full Text PDFContact (Thousand Oaks)
December 2023
Neurologische Klinik, Ludwig-Maximilians-Universität, Munich, Germany.
The two very rare neurodegenerative diseases historically known as the "neuroacanthocytosis syndromes" are due to mutations of either or These are phenotypically similar disorders that affect primarily the basal ganglia and hence result in involuntary abnormal movements as well as neuropsychiatric and cognitive alterations. There are other shared features such as abnormalities of red cell membranes which result in acanthocytes, whose relationship to neurodegeneration is not yet known. Recent insights into the functions of these two proteins suggest dysfunction of lipid processing and trafficking at the subcellular level and may provide a mechanism for neuronal dysfunction and death, and potentially a target for therapeutic interventions.
View Article and Find Full Text PDFChorea-acanthocytosis (ChAc) is a rare clinical genetic disorder of the nervous system, which is characterized by choreiform movement disorder, cognitive decline, and psychiatric disorders. ChAc is mostly diagnosed based on its typical clinical manifestations and the increased number of acanthocytes in peripheral blood smears. Here, we report a patient, who has the characteristic clinical manifestations of ChAc with limb choreiform movements, involuntary lip and tongue bites, seizures, and emotional instability.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
November 2023
Theoretical Medicine and Biosciences, Saarland University, Campus University Hospital, 66421 Homburg/Saar, Germany.
The 11 International Meeting on Neuroacanthocytosis Syndromes was held on September 15-17, 2023 at the University Hospital Campus in Homburg/Saar, Germany. The meeting followed the previous ten international symposia, the last of which was held online due to restrictions due to COVID19, in March 2021. The setting of the meeting encouraged interactions, exchange of ideas, and networking opportunities among the participants from around the globe, including basic and clinical scientists, clinicians, and especially patients, their relatives and caregivers.
View Article and Find Full Text PDFJ Clin Sleep Med
March 2024
Department of Neurology, University Hospital of LMU Munich, Munich, Germany.
Study Objectives: McLeod syndrome is a very rare multisystemic neurodegenerative disease linked to mutations in the gene. It has cardiac, neurologic, and neuromuscular manifestations and shares similarities with Huntington's disease. The aim of this study was to evaluate sleep patterns of patients affected by McLeod syndrome.
View Article and Find Full Text PDFBMC Neurol
October 2023
Department of Neurology, Guangdong Neuroscience Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, No. 106 Zhongshan Er Road, Guangzhou, 510080, China.
Background: Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely elucidated. This study reports two novel heterozygous VPS13A pathogenic variants in ChAc that expand the variant spectrum of VPS13A.
View Article and Find Full Text PDFMethodist Debakey Cardiovasc J
September 2023
Sands Constellation Heart Institute, Rochester General Hospital, Rochester, New York, US.