Director, Division of Medical Genetics and Molecular Optogenetic Research, Medical Genetics-Harvard
University, United States
2 Division of Medical Genetics and Molecular Pathology Research, Harvard University, Boston Children’s Hospital, United States
Corresponding author details:
Director Division of Medical Genetics and Molecular Optogenetic Research
Medical Genetics-Harvard University
Copyright: © 2020 Asadi S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 international License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Alexander disease is one of a group of neurological conditions known as the
leukodystrophies. Leukodystrophies are disorders that result from abnormalities in
myelin, the “white matter” that protects nerve fibers in the brain. In Alexander disease, the
destruction of white matter is accompanied by the formation of Rosenthal fibers--abnormal
clumps of protein that accumulate in non-nerve cells (astrocytes) in the brain. The most
common type of Alexander disease is the infantile form that usually begins during the first
two years of life. Symptoms include mental and physical developmental delays, followed
by the loss of developmental milestones, an abnormal increase in head size, and seizures.
The juvenile form of Alexander disease has an onset between the ages of two and thirteen
years. These children may have excessive vomiting, difficulty swallowing and speaking,
poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are
less common. The symptoms sometimes mimic those of Parkinson’s disease or multiple
sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both
males and females, and there are no ethnic, racial, geographic, or cultural / economic
differences in its distribution. Alexander disease is a progressive and often fatal disease.
Alexander Syndrome; Genetic Disorder; GFAP gene; Nervous System
Alexander’s syndrome is a rare genetic disorder that affects the nervous system. This
syndrome is a group of disorders called leukodystrophy that involves the destruction of
myelin. Myelin is a coating of fat that insulates nerve fibers and causes the nerve to transmit
rapidly. If the myelin is not properly maintained, the transmission of nerve waves may be
impaired. Myelin dysfunction also weakens the function of the nervous system (Figure 1).