J Genet Med.  2013 Dec;10(2):88-93. 10.5734/JGM.2013.10.2.88.

Alexander Disease

• Kang JH
• Hong SJ
• Kim DK

• KMID: 1811002
• DOI: http://doi.org/10.5734/JGM.2013.10.2.88

Abstract

Alexander disease (ALXD) is a rare demyelinating disease of the white matter of the brain that is caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. The overexpression of GFAP in astrocytes induces a failure in the developmental growth of the myelin sheath. The neurodegenerative destruction of the myelin sheath of the white matter is accompanied by an accumulation of abnormal deposits of Rosenthal fibers in astrocytes, which is the hallmark of ALXD. The disease can be divided into four groups based on the onset age of the patients: neonatal, infantile, juvenile, or adult. Early-onset disease is more severe, progresses rapidly, and results in a shorter life span than late-onset cases. Magnetic resonance imaging and genetic tests are mostly used for diagnostic purposes. Pathological tests of brain tissue for Rosenthal fibers are definitive diagnostic methods. Therapeutic strategies are being investigated. Ceftriaxone, which is an enhancer of glial glutamate transporter (GLT-1) expression, is currently in clinical trials for the treatment of patients with ALXD. To date, there are no clinically available treatments. The cause, pathology, pathophysiology, inheritance, clinical features, diagnosis, and treatment of ALXD will be reviewed comprehensively.

Keyword

Alexander disease; Cause; Pathology; Pathophysiology; Inheritance; Clinical features; Diagnosis; Treatment

MeSH Terms

Adult
Age of Onset
Alexander Disease*
Amino Acid Transport System X-AG
Astrocytes
Brain
Ceftriaxone
Demyelinating Diseases
Diagnosis
Glial Fibrillary Acidic Protein
Humans
Magnetic Resonance Imaging
Methods
Myelin Sheath
Pathology
Wills
Amino Acid Transport System X-AG
Ceftriaxone
Glial Fibrillary Acidic Protein