Question about FALS

Broberts

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Hello
My grandfather on my dads side had als at age 54. He had 5 children, one of the daughters was diagnosed when she was 71. Her son was recently diagnosed at age 54. None of the other children or cousins have been diagnosed. I read on the forum that if a parent was diagnosed with als then the children have a 50% chance of getting it. Since my grandfather and Aunt and now my cousin have it. What are the chances of myself and cousins getting it? I am not aware if they done any genetic testing.
thank you and I pray for a cure soon.
 

Nikki J

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it sounds like FALS yes Your dad had a 50 percent chance of inheriting a mutated gene. What happened to your dad? Is he still living? If not when did he die and what was the cause?

if your dad inherited the family mutation you would have a 50 percent chance of getting it. If he did not your chance is zero.
in one sense your chance with no information on your dad is 25 percent.

i would try very very very hard to find out your cousin’s genetic status. since there are current trials for the two most common genetic mutations he should have been tested given the history.

if that branch of the family has European roots the likely culprit is C9orf72 which does have a trial.
 

Broberts

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Thank you for the reply

My dad passed at the age of 64 from heart failure. All of the other sibling from my grandfather are in there 70's and none of them have any symptoms. I forwarded this discussion to my Uncle who will get it to my cousin in regards to the gene testing. I will let you know how it goes moving forward.

From what I understand so far it seems that even if you inherit the mutated gene, that does not always mean you will get ALS ? Thank you again for replying to my post. I really appreciate it
 

Nikki J

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It depends on the mutation how penetrant it is. C9 according to my neurogenetist is almost fully pentrant by 84. At 64 IF c9 is the family mutation and IF your dad carried it there would have been over 50 percent chance he would have shown it. In c9 males the age at which 50 percent of carriers are symptomatic is about 58.

other mutations are less penetrant and still others are virtually fully penetrant at younger ages
 
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