Alexander disease
Alexander disease is a rare, often fatal, neurodegenerative disease that primarily affects infants and children, causing developmental delay and changes in physical characteristics.
Pronunciation
Alexander disease is pronounced as /ˌælɪgˈzɑːndər dɪˈziːz/.
Etymology
The disease is named after the American pathologist, Dr. William Stewart Alexander, who first described it in 1949.
Definition
Alexander disease is a type of leukodystrophy, characterized by the destruction of the white matter of the brain and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (early-onset). Symptoms of the early-onset form include an enlarged brain and head (macrocephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay.
Causes
Alexander disease is caused by mutations in the GFAP gene. This gene provides instructions for making a protein that is found in astrocytes, a type of cell in the brain and spinal cord. Mutations in the GFAP gene alter the structure of the GFAP protein or increase the amount of this protein in cells, which can disrupt the normal functions of astrocytes and lead to the characteristic features of Alexander disease.
Related Terms
- Leukodystrophy
- White matter
- Rosenthal fibers
- Macrocephaly
- Spasticity
- Intellectual disability
- Developmental delay
- GFAP gene
- Astrocytes
See Also
External links
- Medical encyclopedia article on Alexander disease
- Wikipedia's article - Alexander disease
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