fALS and poss FTD?

[AMAMP]

Hello,
My mom has been diagnosed with Bulbar Palsy ALS and she is 71 years old (first symptoms were at 68 years). My grandfather had early onset dementia/arthritis in his 50’s with some symptoms similar to FTD.. he died at 68 years. There are no other known ALS or dementia cases in our family. Is it likely/possible that my moms ALS is familial?
Thanks,
Amamp

 

[Nikki J]

Is it possible? Yes. Is it likely? Probably not. Your mom is old for FALS and dementia is common. However your mom can request genetic testing. some clinicsae routinely testing but not all are yet and being elderly they might have skipped it.

 

[BlsdMama]

Unlikely. My grandmother died of FTD so I was fully tested. Mine is sporadic. My dad and his teen siblings are still all healthy in their 60s and 70s. She can be tested if she is willing and you want to know, but take comfort that familial ALS is only about 10% of cases and even if you inherit c9 mutation, it is not a certainty it will develop into ALS.

 

[Bry2k200]

I was told with the C9 mutation it will either develop into ALS, FTD or both. Some of my family members have the gene, I was fortunate enough to avoid it (I lost my mother in 2021 to ALS).

 

[Nikki J]

C9‘s penetrance ( the likelihood of getting an associated disease) has been hotly debated. The diseases you mention are certainly the most common manifestations but it has a few rare ones and probably more to be discovered.

re penetrance when it was first discovered some doctors said it was 100% or close. You may still encounter this. I think prevailing thought is 70-80. I personally believe some families are more penetrant than others due to unknown genetic factors ( protective or deleterious). My family doesn’t seem to have healthy carriers or obligate carriers so maybe there is something else in play as well as our known c9

 

[AMAMP]

Thank you for all this interesting information! My mom refuses to get tested so I was just hoping to get some general thoughts as you so kindly provided. I’m hopeful that my moms 5 siblings all ages 53 years plus have so far had no signs of either condition. Thanks again for all of your input.