Alexander disease

Alexander disease is a rare, usually progressive disorder of the central nervous system caused by pathogenic variants in GFAP. It is characterized by Rosenthal fibers, abnormal protein deposits in astrocytes.

GFAP: GFAP is a protein that forms intermediate filaments in astrocytes and is encoded by the GFAP gene. Pathogenic variants in this gene drive Alexander disease.
Magnetic resonance imaging: Magnetic resonance imaging is a technique that creates detailed images of internal tissues using magnetic fields and radio waves. MRI can reveal characteristic patterns that support an Alexander disease diagnosis.
Infantile Alexander disease: Infantile Alexander disease is an early-onset form typically presenting in the first two years of life. This form often features developmental delay, seizures, and progressive motor impairment.
Canavan disease: Canavan disease is an inherited leukodystrophy caused by ASPA variants and characterized by spongy degeneration of brain tissue. It can cause early developmental impairment and white-matter abnormalities but has a different genetic cause.
Werner Rosenthal: Werner Rosenthal was a German neuropathologist who described the astrocytic inclusions later named Rosenthal fibers. His observations identified the deposits associated with Alexander disease.
Astrocyte: An astrocyte is a star-shaped glial cell that supports neurons and helps maintain the brain’s extracellular environment. These cells accumulate abnormal GFAP and are central to the disease’s pathology.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with a condition or trait. Finding a pathogenic GFAP variant can confirm the diagnosis.
Juvenile Alexander disease: Juvenile Alexander disease is a form with childhood onset, generally after infancy. Its presentation may include bulbar symptoms, gait difficulties, and less prominent developmental regression.
Metachromatic leukodystrophy: Metachromatic leukodystrophy is a lysosomal disorder caused by impaired sulfatide breakdown and progressive myelin loss. It is a genetic white-matter disease distinguished by demyelination rather than GFAP-rich astrocyte inclusions.
William Stewart Alexander: William Stewart Alexander was a New Zealand pathologist who reported the disease that bears his name in 1949. His description established the original clinicopathological account of the disorder.

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