Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy

Alexander disease (ALXDRD) is a rare astrogliopathy characterised by white matter abnormalities, ultimately leading to neurodegeneration. 1 ALXDRD patients have been classified by age of onset, MRI findings or both. The most severe form is characterised by early onset of symptoms, while the milder form is marked by later onset and slower progression.2