ISSN 2631-3944

The Role of Genetic Mutations on Gene GFAP in Alexander Syndrome

Shahin Asadi1*, Mohammad Reza Aranian2

1 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

CitationCitation COPIED

Asadi S, Aranian MR. The Role of Genetic Mutations on Gene GFAP in Alexander Syndrome. Biomed Res Rev. 2020 Jan;3(1):117


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

Overview of Alexander Syndrome

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[1] (Figure 1).