Alexander disease - LEUKOTREAT, therapeutic strategies for leukodystrophy affected patients

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Last update : 09/02/2015

Alexander disease

Alexander disease is a disorder of cortical white matter that predominantly affects infants and children and usually results in death within ten years after onset.


It is caused by mutations in the glial fibrillary acidic protein (GFAP) exclusively or predominantly expressed in astrocytes. The mutated GFAP accumulate in astrocytic inclusions called Rosenthal fibers with a toxic gain of function.

Characteristics include seizures, hydrocephalus, severe motor and intellectual disability, severe white matter abnormalities, involvement of the basal ganglia and cerebellum, and elevated CSF protein concentration.

For detailed information about Alexander disease, read the corresponding review on the NCBI website (National Centre for Biotechnology Information).