Possible FALS

[Jesse35]

Hello I have a question about FALS. My mother died of ALS 5 years ago at age 68, I just learned that her brother who is 83 years old has FTD and started having symptoms of FTD when he was 79. My mothers sister another member of the family died 7 years ago of vascular dementia, and my brother has schizophrenia. Is there a chance that I can develop Als and pass it on the my son ?

 

[Nikki J]

Vascular dementia has no known association with ALS so cross that out. There is an increased rate of schizophrenia in relatives of SALS we don’t know why.

Ftd can be a manifestation of some als mutations though 79 is very old for onset. C9 would be the most common mutation for this if you have European ancestry. If you don’t then it still could be but other ftd associated mutations would be more likely. Schizophrenia does have a c9 association but see comment above

If we assume for the sake of argument your mother did carry a mutation you have a 50 percent chance of inheriting it. If you did not you can not pass it on. If you did any child would have a 50 percent chance of inheriting a mutation. No mutations are fully penetrant meaning some carriers never get a disease from the mutation. New research has shown overall c9 is only about 30% penetrant though the thought is that some families like mine have some other genetic factor that increases penetrance dramatically

If you want to pursue this you should find a genetic counselor who knows ALS and will discuss the pros and cons of testing

 

[Jesse35]

Thank you for the info, I'm pretty sure if my mother did have the mutation it would be the c9 one. We do have european ancestry in our family. Should I get my uncle to get tested or is it much easier for me to do the test? Is it an easy process to get tested?

 

[Nikki J]

If your uncle can get tested it is best. Always should be the symptomatic person. If they are negative then there is nothing to find so clears the whole family. Asymptomatic negatives could be just lucky. The test is either a tube of blood or a cheek swab There is a free program it doesn’t include ftd but maybe your uncle would qualify as a sibling of an als patient Ionis Pharmaceuticals Amyotrophic Lateral Sclerosis Sponsored Testing - PreventionGenetics