Hereaditary ataxia has it been 50/50

[lola261184]

Hi just wondering has ataxia been 50/50 in your family ? Did any one miss out

[woodesden]

Hi Lola,

Thanks for your email. The history in my family is -

My Dad's father had it - further back we don't know.

My Dad had four brothers and two sisters. My Dad and two brothers had ataxia. So, from seven children, three got ataxia.

My Dad had three children, me and two older brothers. Only I got ataxia.

One of Dad's brothers had four children. Three boys and one girl. One boy and the girl got ataxia.

The other brother had one boy. He did get ataxia.

I have two boys 55 and 53. They show no signs of ataxia.

My own conclusion is that there seems to be less than a 50/50 chance, but it seems very much the luck of the draw.

Hope this helps.

Woodesden

[Stanleyclan]

We know little about the pattern in our case due to little contact with family but it came from my husbands mum and all three of her children have Ataxia. I am still not sure it's not a maternally passed gene......waiting for the Genome testing results to come through......18 months and counting......

[lola261184]

My partners nanna has it not sure on her sibling . His mam now her sister is clear brother untested x

[ladyntramp]

Hi lola261184,

I'm a bit like woodesden with regards to inheriting my ataxia. Unable to go any further back than dad's mum who had it and so did one of her sisters. Dad's mum had 3 children - 2 male 1 female. 1 male and the female got it but not the other male. Then dad had 2 girls but only 1 of us got it. His sister had a boy and a girl - the girl got it not the boy, she had 2 boys and 1 of them got it and I had boy and girl and neither have it yet, and I hope they never do. My grandchildren show no signs so I'm hoping they miss out. In short to me it seems very random because it doesn't matter if you are male or female, and it doesn't seem to matter if you are born first, second or third. I had genetic testing done and so far the only result I've had was that the defective gene was not found. I have since had further genetic testing and am still awaiting results (had the test about 12 months ago - but it had to go to England from Australia so I guess that has slowed it down). The only thing to come from the results would be that my children and grandchildren could be tested to see if they carry that particular gene and then decide whether to risk children of their own. Debillitating but not life threatening!

Bless you.

Barbara.

[isabelalfaiate]

Dear Lola,

If the disease is genetic it does not mean that all the descendants from the person with ataxia will have it too. Going back on my family tree, as far as I know the results are as follows: We seem to think my paternal grandmother may have had ataxia but died long before the age of showing any symptoms.

In my dad's geration out of 5 sibblings only my father and his older sister had it. There were 14 kids in my generation. My aunt who had ataxia, had 4 kids, all well over 65 and none of them have ataxia, they are all healthy. My dad had 3 girls and only I have it. My older sister does not have it and my younger sister passed away at 45 with a heart attack, so we do not know if she was affected, but chances are she was not. My neurologist says that members of the family, even if the parent had ataxia but are healthy are in no danger of having descendants with the disease, he says there are no carriers. You either have it or you do not. I do not know if this is correct for all types of ataxia, but that is what he told me, I have SCA3. In our family that was a relief as all the descendents of healthy parents, need no worry about this. However my descendants have a 50/50 chance, but there are ways of ensuring that their descendents will not have ataxia, by getting genetic counselling. Hope he is correct.

Best wishes

Isabel

[FFNick]

From these histories, ataxia does not skip a generation.

[Litty]

Genetic testing is so hard and we have SCA1 in our family. I have done a bit of family tree research and traced it back to my great great grandad. You either have it or you do not and it does not skip a generation. They did not know what it was years ago but strokes and brain problems are a good sign.

I inherited it from my Dad and my one sister is clear (so her kids are) and my other is in a home in Australia, not well (we are in UK). I have 2 children and my son was tested last year (he does not have it - SO happy) but my daughter (late 20s does not know). I think she will be tested soon but my sister had a mental breakdown when she was waiting for her test (luckily clear).

Testing is good for some but others find it so hard x

[lola261184 in reply to Litty]

Thanks litty x

[Poweruser]

I should say at the outset I am NOT a qualified geneticist, but do suffer from cerebellar ataxia and I can quote from a genetic counselling session several years ago.

Where the cerebellar ataxia subtype has been identified as genetic, the genetic condition is defined as dominant. This means that there is a 50% chance that a child conceived by a couple where one is ataxic will inherit the condition, regardless of the genetic profile of their partner.

Hope this clarifies things.

[GingerRoxy in reply to Poweruser]

What if a person does not show any symptoms but her mom and grandmother had it? Also, out of her 4 siblings , the youngest and the eldest both have it but she (second eldest) and the 3rd boy is not showing any symptoms. They are 47 and 46. Could they be carriers if they do not have any symptoms? Is there a possibility for their children to inherit it? Both refused to be tested. For info, onset starts around 45-50. But initial symptoms maybe earlier. They do not know the type of sca yet as genetic testing is not done. This is just based on Mri results. Mom and grandmother passed away before they were diagnosed. All had balance problems but upper body and speech does not seem to be affected much. Appreciate your kind thoughts on this.

[RachelD84]

Hi Lola, I'm a bit late to this discussion but thought my husbands and I's experience may be relevant - my husband and his sister both inherited SCA2 from his mother, who inherited it from her father - 2 of her 4 siblings have been diagnosed also unfortunately 1 of the remaining 2 died at an early age so it's unknown if he inherited it also. My husband and I had PGD (preimplantation genetic diagnosis) in order to conceive a healthy unaffected baby of the 8 embryos which made it to the biopsy stage 6 of these had the effected chromosome luckily the first unaffected embryo we had implanted blessed us with a hopefully Ataxia free baby girl!

So the possibility of each child having Ataxia is 50/50 this doesn't decrease for the next child although the probability of each child having Ataxia would decrease.

[lola261184]

Thanks everyone x