Related Experiment Video

Updated: May 15, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Infantile Alexander disease: A rare leukodystrophy

K Jagadish Kumar1, H Suryaprakash, V G Manjunath

  • 1Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India.

Journal of Pediatric Neurosciences
|December 19, 2012
PubMed

Insights

Infantile Alexander disease, a rare leukodystrophy, presents early with severe symptoms. This case highlights typical clinical and MRI findings in infantile Alexander disease.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Alexander disease is a rare genetic leukodystrophy.
  • Infantile form has early onset and severe neurological deficits.

Observation:

  • A case of infantile Alexander disease is presented.
  • Patient exhibited macrocephaly, seizures, and psychomotor retardation.
  • MRI revealed characteristic white matter abnormalities.

Findings:

  • The case aligns with typical infantile Alexander disease presentation.
  • Symmetric white matter changes with frontal predominance were noted on MRI.

Implications:

  • Early diagnosis of infantile Alexander disease is crucial.
  • Understanding typical MRI findings aids in prompt identification.
  • Further research into Alexander disease pathogenesis is warranted.

Keywords:
Alexander diseasefrontal predominancemacrocephalymagnetic resonance imaging white matter abnormalities

More Related Videos

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants06:02

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants

Published on: November 28, 2025

Mouse Models of Periventricular Leukomalacia06:24

Mouse Models of Periventricular Leukomalacia

Published on: May 18, 2010

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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,...