Review of Alexander disease: beyond the classical concept of leukodystrophy.

[alexander disease]

Alexander disease is classified as one of the leukodystrophies , which are degenerative diseases primarily affecting the cerebral white matter . Formal diagnosis is achieved by showing diffuse accumulation of Rosenthal fibers in the brain by biopsy or autopsy . Showing a heterozygous mutation in the glial fibrillary acidic protein (GFAP ) gene is currently sufficient for diagnosis . The mechanisms of Rosenthal fiber formation remain unclear . However , both the quality and quantity of GFAP are important . GFAP -epsilon (rodent homologous GFAP -delta ), one of the alternatively spliced GFAP isoforms , may also play a modulating role in aggregate formation . The current ease of diagnosis has accelerated the accumulation of a wide variety of patients with Alexander disease along with the widespread use of MRI . In contrast to the classical infantile type , patients with juvenile and adult types mainly complain of bulbar symptoms and usually show progressive atrophy of the lower brainstem and cervical spinal cord with mild or minimal leukodystrophic changes . Among the many MRI findings of Alexander disease , periventricular linear lesions with various names depending on the thickness and shape seem to represent the unique pathophysiology , because the subventricular zone of the adult human brain includes special astrocytes that behave as multipotent progenitor cells and specifically produce GFAP -epsilon . Except for a few mutations , no clear phenotype-genotype correlation has been established for Alexander disease , although male preponderance in the infantile type suggests that phenotypes may be partly affected by gender .

Diseases
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Diseases presenting "clear phenotype-genotype correlation" symptom

alexander disease

kallmann syndrome

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