Related Experiment Video
Updated: Feb 7, 2026
07:33
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
37.3K
Autoimmune septin-5 cerebellar ataxia
Josephe A Honorat1, A Sebastian Lopez-Chiriboga1, Thomas J Kryzer1
1Department of Laboratory Medicine and Pathology (J.A.H., T.J.K., J.P.F., V.A.L., S.J.P., A.M.), the Department of Neurology (A.S.L.-C., V.A.L., S.J.P., A.M.), and the Department of Immunology (V.A.L.), College of Medicine, Mayo Clinic, Rochester, MN; and Department of Neurology (M.D., A.F.), University of Texas, Southwestern, Dallas.
Neurology(R) Neuroimmunology & Neuroinflammation
|July 13, 2018
Summary
Researchers identified a new autoimmune cerebellar ataxia linked to antibodies targeting septin-5, a neural protein. This finding offers a biomarker for a treatable neurological condition.
Area of Science:
- Neuroimmunology
- Neurology
- Molecular Neuroscience
Background:
- Autoimmune cerebellar ataxia is a group of neurological disorders.
- Identifying specific autoantigens is crucial for diagnosis and treatment.
Purpose of the Study:
- To identify the autoantigen in a subset of autoimmune cerebellar ataxia.
- To characterize the clinical features and outcomes associated with this novel autoimmune condition.
Main Methods:
- Indirect immunofluorescence assay on archived sera and CSF.
- Western blot and mass spectrometry for autoantigen identification.
- Recombinant protein assays for antigen specificity confirmation.
Main Results:
- Identified septin-5 as the target antigen in six patients with autoimmune ataxia.
- Observed characteristic IgG staining patterns in the cerebellum and cerebrum.
- Clinical presentation included subacute onset of cerebellar ataxia with eye movement abnormalities.
Conclusions:
- Septin-5 IgG is a novel biomarker for a potentially fatal, yet treatable, autoimmune ataxia.
- Early identification and immunotherapy may improve patient outcomes.
More Related Videos
Related Concept Videos
01:19Septins
2.3K
Septins are protein filaments forming the cytoskeleton along with the microtubules, microfilaments, intermediate filaments, and other accessory proteins. In 1971 while studying the cell division cycle in mutant Saccharomyces cerevisiae Harwell et al. first identified the septin-related genes playing a crucial role in yeast cytokinesis. Fluorescence microscopy revealed that these proteins localize at the budding neck as rings. These ring-like proteins were then named Septins by John Pringle, and...
2.3K
01:02Role of Septins
2.2K
Septins are the recently discovered fourth major protein component of the cytoskeleton, along with microfilaments, microtubules, and intermediate filaments. These proteins can associate with other cytoskeletal filaments and carry out varied roles or can be free-floating in the cytoplasm.
Cellular Functions of Septins
Recent studies have revealed the multifaceted roles of septins in various cellular processes such as cytokinesis, ciliogenesis, and neurogenesis. Septins act as scaffolds and...
Cellular Functions of Septins
Recent studies have revealed the multifaceted roles of septins in various cellular processes such as cytokinesis, ciliogenesis, and neurogenesis. Septins act as scaffolds and...
2.2K
01:045-Number Summary
5.7K
In a dataset, the 5-number summary includes the minimum data value, the data value of the first quartile, the median data value or data value of the second quartile, the data value of the third quartile, and the maximum data value. These 5 data values can be visualized as a box and whisker plot.
In a box plot, the minimum and maximum data values represent the lower and upper whiskers in the graph, and the median is designated as the center of the box in the chart. The first quartile and third...
In a box plot, the minimum and maximum data values represent the lower and upper whiskers in the graph, and the median is designated as the center of the box in the chart. The first quartile and third...
5.7K
01:29Autoimmune Disorders
1.8K
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
1.8K
01:27Chemotherapy-Induced Nausea and Vomiting: 5-HT3 Receptor Antagonists
682
5-HT3 receptor antagonists, such as dolasetron, granisetron (Kytril), ondansetron (Zofran), and palonosetron (Axoli), are crucial in managing chemotherapy-induced nausea and vomiting (CINV) and postoperative nausea. These drugs selectively block 5-HT3 receptors in the visceral vagal and spinal afferent nerves, chemoreceptor trigger zone, and the vomiting center. They have a rapid onset of action and can be given as a single dose before chemotherapy. Ondansetron and granisetron, in particular,...
682
02:51mRNA Stability and Gene Expression
6.7K
The structure and stability of mRNA molecules regulates gene expression, as mRNAs are a key step in the pathway from gene to protein. In eukaryotes, the half-life of mRNA varies from a few minutes up to several days. mRNA stability is essential in growth and development. The absence of the proteins regulating its stability, such as tristetraprolin in mice, can cause systemic issues, including bone marrow overgrowth, inflammation, and autoimmunity.
Cis-acting Elements involved in mRNA stability
Cis-acting Elements involved in mRNA stability
6.7K