2005年10月22日
CADASIL[Diseases]
CADASIL
CADASIL stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and is a genetic disorder characterised by migraines with aura and cerebrovascular disease causing dementia and stroke. The disease is caused by a Genetic mutation|mutation of the NOTCH3 gene. Some patients also experience mood disorders and epilepsy. CADASIL brain damage is characterized by subcortical infarcts, white matter damage and microbleeds. An ultrastructural analysis shows small caliber arterial damage, consisting in smooth muscle cells loss, swollen endothelial cells and osmiophilic deposits. There is some evidence showing that clinical progression depends on the mutation's localization in the Gene sequencing|gene sequence.CADASIL has only recently been discovered and only around 400 families with the disease have been diagnosed. However, it is believed that the disease is far more prevalent than current diagnoses indicate.
|
posted by protinse865 at 09:17|
Comment(0)
|
TrackBack(0)
|
日記
|

|
この記事へのトラックバックURL
http://blog.seesaa.jp/tb/8447779
この記事へのトラックバック