Hi Guys,

I recently learned that my great-grandmother died of Huntington's in her mid 50's. Her son, my grandfather, is a vital 80 year old man who has shown no cognitive or physical impairments of any kind, and continues vigorous exercise and his job as an attorney.

My father, his son, is in his mid 50's and shows no symptoms of the disease. He is a university professor and has no cognitive impairments and shows no problems physically. He has two sisters, one closer to 60, and one in her early 50's. Neither of them have shown any signs of the disease manifesting itself in any way.

I am one of four grandchildren. The oldest is 22, and has shown no signs of it. Is it safe to assume that all of us after my grandfather are safe from the disease? I have heard some conflicting reports about this intermediate CAG range. Would it go from a terrible, manifested case in one generation and then skip two generations before reappearing? Is this possible, and if so, how truly likely is it.

I appreciate all your help in advance. You're all in my thoughts and my prayers.

Regards,
Jack

It would take a genetic test to confirm but I would think you're in the clear. I don't think it is likely your grandfather and father would both have landed in the intermediate range. But Im not a doctor

Oh, meant to add, it doesn't skip generations. I guess it is possible you could be one of the rare spontaneous developments but you could also be struck by a meteor

As jsr said, the test is the only way to know for sure. It is possible that HD missed you and your family, but that's a 50/50 shot. I tested negative, but according to my CAG repeat number, it put me in the "Normal/Mutable" range. I could have passed it to my kids under certain circumstances, if I had chosen to have any. My youngest sister, who has no children either, tested flat negative. My middle sister, who has a 5 year old daughter and would like to have more kids, has not decided to test yet. Our mother is CAG 40. Her mother and two of her three sisters had/have HD. Mom didn't show symptoms until her late 50's. She got tested at 63. Good luck!

My great-grandmother was diagnosed with the disease in the mid 1940s. From talking with an uncle, the details of the diagnosis were relatively sketchy, as it doesn't appear that anyone else had the disease at any point before her, but I can't confirm or deny that. Is there a similar disease that people had but were misdiagnosed with HD before the development of the test?

Also, she seems to have had a fairly severe case of it, which implies a decently high number of CAG repeats. Her son, my grandfather, is healthy. Does someone with detailed biological/ genetic knowledge of this disease know if it is possible/how likely that he inherited the mutated allele with but with far fewer number of CAG repeats, or is it more likely that he inherited the wild type, disease free allele that would make the rest of us insusceptible to HD?

Thanks.



Edited 1 time(s). Last edit at 10/17/2010 02:59PM by jmcc.

Sounds like your family maybe luckily dodged the HD bullet, but only the test would let you know for sure. My FIL didn't get diagnosed until he was in his 70's. There was no known HD in the family before him...maybe his mom or dad had a CAG in the 30's that mutated upward? Like some have said, there can be cases where the CAG could mutate up or down (the down would be unusual)...maybe for your family is negative (I hope so), or maybe instead the CAG mutated down and then you're not off the hook. Sometimes if it's in the 30's you wouldn't be affected, but then if it would mutate and creep upward for children then some could become symptomatic. Just hard to be absolutely sure without the test.

My mom is 82 with HD . We did not notice any great movements other than a slight head nod , once in a while . My mom took economics at university in her early 70's and passed those classes . With my mom we did notice a mood disorder but even that was in-between periods when she was great and normal . My Grandmother lived until her mid 90's and she had HD . I have other relatives who did not show big mood changes until their 60' ; 70's... Many of them making good decisions inter-wound with bad decisions . I have an uncle who made good decisions up until his 70,s and then his decisions at times were not the best . So what I guess I am saying ; it would be hard to say for absolute , unless someone tested . The oldest person if they tested I wonder if that wouldn't be better , because even if the test came back positive , at this point in their lives they aren't applying for insurances etc. Anyways welcome . and I hope you and your family are not effected by the expanded gene . db

After speaking with my grandfather, it appears that the only person who had any signs or symptoms of any neurogenerative disease was my great-grandmother, his mother. She was a chronically ill woman who exhibited SOME of the symptoms of HD, but not all and other non-typical symptoms. His grandmothers family and all subsequent cousin generations, his mother's brother and his children, my own dad and aunts, my first cousins, my grandfathers sister and her children and grandchildren, none of them are symptomatic. 150 years of people with no HD diagnosed except for great-grandma Ada in 1953. Her father is the missing link--he divorced and moved away and was described as 'emotionally odd', but never with any physical symptoms. My grandfather's grandfather's second cousin, my great grandfathers nephew, said that no one in his family ever experienced any kind of symptoms.

After his mother died, my grandfather and his sister visited doctors at a Long Island hospital who did some sort of testing for the disease (idk what, given the late discovery of a genetic test) and they were told they aren't symptomatic.

We are really led to believe by all of this that there was a misdiagnosis here. Are there ANY other disease that present symptoms similar to HD that aren't inherited in the same way or are more spontaneous? If so, what are they?

Thanks,
Jack



Edited 1 time(s). Last edit at 10/17/2010 08:11PM by jmcc.