Talk:Fatal familial insomnia

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[edit] Drug therapy

Sorry if this sounds stupid, but couldn’t a person help to cure fatal familial insomnia by getting nightly injections of a sedative?- EKN

I understand that these drugs have no effect as the mechanism in the brain that they act on is what is malfunctioning. I'll see if I can find some more and add it to the article... Dan100 (Talk) 20:43, 16 March 2006 (UTC)
I couldn't, but I gave the article a tidy up anyway. Dan100 (Talk) 07:31, 17 March 2006 (UTC)

Thanks Dan. This is very peculiar. So there is no way of "putting them to sleep"?- EKN 19 March 2006

What about inducing a coma? - moon octopus

I'm wondering about that too. EKN 14:26, 5 April 2006 (UTC)EKN

As far as I've been able to tell, inducing a coma wouldn't have any effect at all on the health of the patient, because the disease would continue to advance regardless of their state of consciousness. Sedatives wouldn't work, either, because the patient is not in a state of full consciousness once the disease sets in, anyway, and the action of the prions on the brain matter produces much, much more action on the vital parts of the brain than any sedative could hope to do by shifting dopamine or serotonin or melatonin around. The thing is, the sufferers of this disease aren't simply casual insomniacs; they can't sleep at all, so they slowly degenerate into a semi-conscious, disabled stupor, until they die after the prions destroy enough of their brains. The MSNBC piece on this really explains it well. The link is in the article. Avalyn 08:43, 26 April 2006 (UTC)
The way I read it, the protein anomaly is what causes the health deterioration and eventual death. You could probably put them in a coma with barbs or something, and that might improve quality of life until the plaque buildup starts to cause noticeable health deterioration, but it wouldn't affect the progression. Successful treatment would require gene therapy, a way to remove the plaques or a way to replace the anomalous protein with functional protein. Zuiram 18:44, 23 April 2007 (UTC)

The phrase "death is inevitable" seems highly unencyclopedic to me--this is a tautology! Death is inevitable with or without this condition. Perhaps this should be rephrase to reflect the intended meaning. 128.237.245.71 12:05, 13 May 2006 (UTC)

Would "the disease invariably leads to death within 7-36 months" be better? Zuiram 18:44, 23 April 2007 (UTC)

Wouldn't putting them in a coma every night at least relieve the tiredness even if it doesn't stop the disease? —Preceding unsigned comment added by 69.180.75.74 (talk) 07:21, 7 October 2007 (UTC)

[edit] just 28 families

The main article said "The gene responsible is carried in just 28 families worldwide". I moved this statement here so we could talk about it. At first glance, it sounds like an impossible claim to support, as no one has analyzed the genes for all families worldwide, nor is there any statement about how the families are counted. I suspect the statement is a misinterpretation of something much more nuanced from the medical literature, but I was unable to find the original. I would like to hear what other peopel think. --Zippy 05:58, 5 June 2006 (UTC)


Agreed. Perhaps: "The gene responisble has been identified in only 28 families worldwide."

I just heard on NPR today that it has been documented in 40 families worldwide, and estimates based on genetics put the total number somewhere about 200. However, I am hesitant to put this in because I am not sure that 40 was an exact number ('though I believe it was). --Azsymkamen 19:40, 18 November 2006

An unfounded speculative remedy might be meditation which I'm told reduces ther meditator's need for sleep.

The lack of sleep is not what causes death. Zuiram 18:45, 23 April 2007 (UTC)

[edit] FFI association

The msnbc report (http://www.msnbc.msn.com/id/6822468/) says that-"The Roiters’ extended family has formed an association to help find a cure, and raise the money for research."-is there any other information about this association as i can't find anything, anywhere.

--Frills 04:51, 15 August 2006 (UTC)

The official website is http://www.afiff.org/index.php?newlang=english It is also the only website involving the FATAL FAMILIAL INSOMNIA FAMILIES ASSOCIATION - PRION DISEASES, that I can find. I'll get back to you if I find anymore.

[edit] Prion section should be deleted or revised

"There are other diseases involving the mammalian prion."

- This sentence is nonsensical -- there is no such thing as "the mammalian prion." -- 201.51.236.252 11:59, 7 November 2006 (UTC)

It would seem to be the group of proteins synthesized to eventually become Silver-staining amyloid plaques, whatever the cause. This protein is probably different in different mammals and organs, and it often localizes copper. Perhaps that shouldn't be a wonder, because Copper and Silver are in the same group. Brewhaha@edmc.net 08:41, 8 May 2007 (UTC)

"Some are transmissible (TSEs) such as kuru, bovine spongiform encephalopathy (BSE, also known as "mad cow disease") in cows, and chronic wasting disease in American deer and American elk (in some areas of the Rocky Mountains). Some forms of congestive heart failure are also believed to be caused by variant prion, as well as Creutzfeldt-Jakob disease (CJD). These are generally not considered to be transmissible, except by direct contact with infected tissue, such as cannibalism, transfusion or transplantation."

- This is irrelevant to sleep deprivation and should be deleted. -- 201.51.236.252 11:59, 7 November 2006 (UTC)

If amyloidosis is a symptom common to several diseases, one of them jenetic, and we can prevent the symptom, then maybe that will lead to finding and preventing the cause. That should lead to sleep. Hmmm. I want to hear "Flypaper" by Kaos, again. I think I might've conversed with Kaos. Brewhaha@edmc.net 08:41, 8 May 2007 (UTC)

[edit] 50% probability

If this is a dominent trait couldn't the possibility be there for 100% inheritance. Look at this. Say someone had parents each with one of the dominant genes (Pp and Pp) and their child had two of the genes (PP). All of their gammetes would contain the dominant gene thus making it impossible for the offspring not to inherit the gene.

The chances of both parents having the defective alleles are astronomical and even then there would only be a 25% chance of having offspring with a PP genotype. If this person went on to breed then yes there would be 100% inheritance but I presume that the onset would be far earlier and more rapid than in the heterozygous individual reducing their chances of having children. Those are my thoughts anyway. --Meridius 23:25, 5 February 2007 (UTC)

That makes sense to me, but I didn't formally take Jenetiks. Brewhaha@edmc.net 08:48, 8 May 2007 (UTC)

[edit] AFIFF website hacked

This one - http://www.afiff.org/index.php?newlang=english

I went there just now, and it has a "Hacked by / y@kışıkLı® / CAPRAZ ATES TEAM" message. If this is not reversed, then the external link to it will be useless, and should be removed. 81.153.110.46 (talk) 16:02, 20 January 2008 (UTC)

Well, it still appears to be, so I deleted the link. dcd139 (talk) 01:47, 29 January 2008 (UTC)

What a shame, I really wanted to do some research on the disease. Whomever is maintaining that website should wake up. —Preceding unsigned comment added by 71.59.140.95 (talk) 04:20, 25 February 2008 (UTC)

Better news now: the site has recovered and seems to be operating normally again, so I've re-added it to the external links. Loganberry (Talk) 04:36, 6 March 2008 (UTC)

[edit] CJD is a TCE

CJD is a TCE, so this should be edited to reflect that. Snellios (talk) 19:23, 13 April 2008 (UTC)

I put 'prion' with an internal link in the beginning Snellios (talk) 18:29, 4 May 2008 (UTC)

[edit] CHD

"Some forms of congestive heart failure are also believed to be caused by variant prion" - really? I don't think I've ever come across this in any of the literature. If it doesn't get a citation I'm going to remove it. Snellios (talk) 18:28, 4 May 2008 (UTC)

I think this comes from the history of one of the families with this disease. A lot of them died of what was thought to be congestive heart failure, but was probably/could have been FFI instead. That would have to be confirmed... i heard it somewhere a while ago... 58.108.18.123 (talk) 13:51, 7 May 2008 (UTC)

[edit] Transmissability

"These are generally not considered to be transmissible, except by direct contact with infected tissue, such as from eating infected tissue, transfusion or transplantation."

All prion diseases are experimentally transmissable, what this sentence should say is that they are not considered an infectious biological agent. Snellios (talk) 16:56, 9 May 2008 (UTC)

[edit] Site hacked-again.

By the same "Turkish hackers" at yakisikli@caprazAtes.org

Take off the link and it won't be targeted.

Lunakeet 14:32, 19 May 2008 (UTC)

[edit] Inconsistency under 'Presentation

in the presentation section the following appear,separated by 2 sentences: 'death usually occurs between 7 and 36 months of onset.' and 'the disease has 4 stages, taking from 7 to 18 months to run its course.'seems to me it's gotta be one or the other or something else, but not both.Toyokuni3 (talk) 02:48, 4 June 2008 (UTC)