Replies to post #104117 on Anavex Life Sciences Corp (AVXL)

[wildcard235]

Rett: "up to 80% have seizures"

From wikipedia. Citation reference: Jian, Le; Nagarajan, Lakshmi; De Klerk, Nicholas; Ravine, David; Bower, Carol; Anderson, Alison; Williamson, Sarah; Christodoulou, John; Leonard, Helen (2006). "Predictors of seizure onset in Rett syndrome". The Journal of Pediatrics. 149 (4): 542–7. doi:10.1016/j.jpeds.2006.06.015. PMID 17011329.

Also from article, Rett seizures have "wide range of severity" and is one of 4 causes of abrupt death from Rett.

[neiu]

Genetic disorder of a mutation of the mecp2 gene. Though I believe it was thought to be part of the autism disorder spectrum. Anyway, epilepsy is a frequent occurrence in Rett Syndrome patients and not a form of epilepsy.

I think Dado can definitely speak more to that though than I.

[A_Good_Day_2]

I don't believe so. I think it's more of a genetic problem that causes dysfunction in certain areas of the brain. It's way beyond me...but it sounds like a very pivotal portion of the X chromosome (MeCP2) doesn't work correctly and it has a far-reaching effect, causing problems with many brain functions.

I got this off of wiki:

"Locus coeruleus cells are not dying, but are more likely losing their fully mature phenotype, since no apoptotic neurons in the pons were detected.

Researchers have concluded that "Because these neurons are a pivotal source of norepinephrine throughout the brainstem and forebrain and are involved in the regulation of diverse functions disrupted in Rett syndrome, such as respiration and cognition, we hypothesize that the locus coeruleus is a critical site at which loss of MECP2 results in CNS dysfunction." The restoration of normal locus coeruleus function may therefore be of potential therapeutic value in the treatment of Rett syndrome."


I believe that Infantile Spasms is a form of epilepsy though...