[A case of Alexander disease suspected juvenile-onset and exacerbating after long stationary state].

[alexander disease]

We report the case of a 40 -year -old woman with Alexander disease . She experienced single seizure as 1 -year -old , and became less active after that . Her academic records in elementary school were poor . However , she graduated from junior college and was later employed as a clerk for a short duration . Her parents , who lived with her noticed her apathy when she was 38 , and gait disturbance soon after . At the age of 40 , she was admitted to a hospital because of a fall and was referred to us . Brain magnetic resonance imaging (MRI ) showed significant leukodystrophy with frontal predominance , and cervical MRI revealed mild cervical cord atrophy with dilated central canal . We performed genetic analysis and found the R 79 H variant of the gene encoding the glial fibrillary acidic protein . The patient was diagnosed with Alexander disease and suspedted juvenile -onset on the basis of the genetic analysis and MRI findings . Patients with juvenile Alexander disease have been previously reported to have variable survival , ranging from the early teens to the 20 's and 30 's . Our patient may suggest that natural history of this disease is more variable than previously thought .