Alexander Disease.
- Author:
Ji Hae KANG
1
;
Seung Jee HONG
;
Doo Kwun KIM
Author Information
- Publication Type:Review
- Keywords: Alexander disease; Cause; Pathology; Pathophysiology; Inheritance; Clinical features; Diagnosis; Treatment
- MeSH: 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
- From:Journal of Genetic Medicine 2013;10(2):88-93
- CountryRepublic of Korea
- Language:English
- 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.
