Related Experiment Video

Updated: Jul 26, 2026

Antibody Transfection into Neurons as a Tool to Study Disease Pathogenesis
06:56

Antibody Transfection into Neurons as a Tool to Study Disease Pathogenesis

Published on: September 26, 2012

[Aicardi-Goutieres syndrome: an oft unrecognised familial early-onset encephalopathy]

V San Antonio1, P Sachs, A Monier

  • 1Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert-Debré, Paris, France.

Revue Neurologique
|June 1, 2005
PubMed

Insights

Aicardi-Goutieres syndrome is a rare infantile encephalopathy characterized by brain calcifications and inflammation. Understanding its immune dysregulation offers insights into CNS calcification and chronic encephalopathies.

Area of Science:

  • Neurology
  • Genetics
  • Immunology

Background:

  • Aicardi-Goutieres syndrome (AGS) is a progressive, familial encephalopathy affecting infants.
  • Key features include cerebral calcifications, white matter abnormalities, and cerebrospinal fluid (CSF) lymphocytosis.
  • Elevated CSF interferon-alpha is a hallmark, especially early in the disease.

Observation:

  • This report details two new French cases of AGS.
  • The study discusses diagnostic challenges, particularly differentiating AGS from intrauterine infections.
  • Unanswered questions remain regarding diagnostic criteria at different ages and the etiology of vasculitis.

Findings:

  • AGS is linked to a locus on chromosome 3p21 in some families.
  • Vasculitis lesions appear related to dysregulated interferon production.
  • Approximately 75 AGS cases have been reported, with more likely undiagnosed.

Implications:

  • Studying AGS enhances understanding of central nervous system (CNS) calcification mechanisms.
  • It provides broader insights into chronic encephalopathies involving immune dysregulation.
  • Accurate diagnosis is crucial due to genetic and therapeutic implications.
Abstract

More Related Videos

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains12:28

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains

Published on: June 3, 2020

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Related Concept Videos

Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
Cerebral Edema ll: Pathophysiology01:22

Cerebral Edema ll: Pathophysiology

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...