Mutations in the FIG4 gene

[Artlaf]

Hello,


My wife, who is 29 years old, has been diagnosed with CMT4J, caused by two mutations in the FIG4 gene. We do not yet know the exact mutations, but the genetic report should be sent to us soon.


While doing some research, I found that certain mutations in FIG4 are also associated with ALS type 11 (ALS11). Could you please clarify the potential risk that she might develop ALS in this genetic context?


At present, she has difficulty climbing stairs, but this has been ongoing for several years without any marked progression. She also experiences falls due to ankle twisting, which have also been occurring for years without significant worsening.


Thank you in advance for your help and insights.

 

[Nikki J]

This is a question to ask her geneticist However, to the best of my knowledge the variants associated with CMT in FIG4 are different than those associated with ALS

 

[Artlaf]

Thank you.

Unfortunately, I cannot speak directly with the geneticist, as the test was ordered by the neurologist and we do not have the contact information for the geneticist involved.
Also, I prefer not to discuss this in front of my wife, as I don’t want to worry her.

We have received the genetic test results: she is homozygous for the I41T mutation.
Do you know if this particular mutation is associated with an increased risk of developing ALS?

Thank you in advance for your insights.

 

[Nikki J]

No , as far as I know it is not

 

[Artlaf]

Thank you Nikki !

 

[lgelb]

One very small study found homozygous expression of FIG4-I41T was associated with milder CMT.

 

[Artlaf]

Thank you Igelb, I tried to contact the people who conducted this study to get their opinion.