Huntington Disease Lighthouse Families

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Hello All

Posted by tmccullough 
Re: Hello All
March 11, 2011 11:55AM
There are not hard and fast rules.. exceptions to every single one... but generally the higher the CAG count the earlier the symptoms appear. One might also say the more severe the symptoms also with a higher CAG but I have never been convinced that is entirely true. A young working mom who has symptoms, has a lot of stresses than a older retired person has. The same symptom would be more disruptive to more people for that younger person than the older one. A young person doing payroll at work, if he forgets things it seems like a big deal... the retired guy forgets his favorite tv show is on. They both have a memory issue but one looks like a big deal and the other missed a tv show. So is the symptom more severe or the outcome of the symptom more severe? Anyway.. sorry no great answer for ya. There are only generalities which may fit you or you are an exception to.



Edited 1 time(s). Last edit at 03/11/2011 11:56AM by Eric.
Re: Hello All
March 11, 2011 07:44PM
Wow. I am sorry for the loss of your father. It sounds like he was a good man. Some of the most memorable moments for Laura & her mom was when she was in the later stages. She was like an angle and at peace with things. Not medicated either.

Pete
Re: Hello All
March 13, 2011 05:10PM
Jason,

I think this is roughly right but im not a doctor so only a lay understanding

CAG stands for cytosine-adenine- guanine (CAG), coding for the amino acid glutamine. It is important to know ones CAG, as some facts are attached to its size. Maybe good news or maybe not so good.

You get one copy of the gene containing the DNA from each parent.

I got CAG 25 from my Dad and CAG 41 from my Mum.

In our disease instead of the length of this repeat being in the normal range (1-26) to send out coding for HTT protein to be made (i think), in HD our CAG repeats are too long.

Between 27-35 a person will not show any signs of the disease but could have a child with an increased length (as this is outside the normal range and potentially unstable).

Between 36 -39 a person may or may not develop symptoms but could have children with increased CAG.

Finally those lucky winners of the 40+ CAG repeat get the "willy wonka golden ticket" full blown mutant protein whizzing around our bodies from the minute we are concieved till the minute we die... there is no getting away from it at some time in our lives (if we live long enough) we will have signs of this illness.

Now.... from 40 > 200++ very very roughly I think if you look at statistical data then a person with 40 will have less severe symptoms that one with a higher CAG. I think its a simple as, the longer the repeat the more toxic the affect on the body.(the more folded over the protein?? i need help here is that correct?) However external factors and other genetic predispositions may affect the course of the illness.... so sometimes you get someone with a CAG in the low 40s who just seems ok... slight traces of illness but nothing serious and they go on to get one of the other fabulous ways to die.... Cancer, Heart disease, Stroke.... Oh the choices so many what it is to be mortal ;p

I think high CAG say over 70 etc then people develope juvenille HD (the protein is so damaged that the toxic effect is seen when a person is very young.

And i think i read somewhere that a baby had over 200 CAG and died very young and very ill... heartbreaking i cant even bear to think on it sad smiley(

My Mum has a 44 CAG i have 41..... I seem to have symptoms that she did not have... i get lot of rapid muscle twitching which i was hoping was "anxiety" my Mother did not..... she had no temper issues or depression was always mellow and calm.... I get road rage when im not even in car and am prone to throwing things around if i dont get my own way i have had a lot of muscle pain for years in legs and cramps in feet/toes didnt know it was HD as Mum didnt get that she had lots of chorea and random vocal tics and rigidity and balance problems, so i just put my head in the sand and assumed it was something else.....

Anyway hope this is enough for you to get your teeth into.. and im sure the more informed on the forum will set to rights anythingI may have got wrong.


L x

ps i hope you under the "willy wonka golden ticket" CAG.
pps for your info im 46 in Mother is 67 (end stage)
db
Re: Hello All
March 19, 2011 12:59PM
I am sorry about your Dad . My mom is 82 and although being very sick with pneumonia last summer , she fooled everyone and kept on living . My grandmother was 93 when she died , never knowing she had HD . All my best . db P.S. may I ask what country you are from ? db
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