To support the Bonsky's in their fight against Alexander disease, please make a direct donation here or at Elise's Corner.
Alexander disease, a Leukodystrophy, is a progressive and fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, one of the so-called “glial” cells of the central nervous system. These aggregates are found occasionally in other disorders, but not with the abundance or particular distribution in the brain that occurs in Alexander disease.
The age of onset is quite variable, ranging from prenatal through the sixth decade. The most common classification divides patients into three categories based on age of onset, infantile (0–2 years), juvenile (2–12 years), and adult (>12 years). More recently, a different classification has been proposed, with only two categories of type I and type II, with the distinction hinging more on distribution of lesions and clinical presentation rather than age of onset (all type I cases being early onset, and type II cases occurring at all ages). Type I patients typically experience seizures and/or developmental delays affecting both cognitive and motor functions, followed by loss of milestones, and an abnormal increase in head size. Other common problems include vomiting and difficulty swallowing. Type II patients also frequently experience difficulty swallowing and speaking, and have poor coordination or gait. Problems with temperature control, sweating, constipation, and pain also sometimes occur. The disease occurs in both sexes, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.