Dctn1

[violet_teloiv]

There's almost no info about this horrible gene also causing FTD and Perry's syndrome.
Uncle died with als and now my brother has it. Pretty sure it's familial.
Obviously no gene treatment and nothing worth in Barcelona. He is waiting to start primeC trial but it would be too late with his fast progression.

What a nightmare.

My parents are heartbroken and already in their 70s.

 

[Nikki J]

It is recognized to have a variant or variants that are implicated in ALS DCTN1-Related Neurodegeneration - GeneReviews® - NCBI Bookshelf

It has multiple variants and it seems they express differently. Unfortunately the only promising treatments for specific FALS mutations right now are qalsody for sod1 and the phase 3 fus drug

Too late for current PALS probably but there is hope both for gene editing ( once they figure out the delivery process I think directing the editing process will be relatively straightforward) and tdp-43 treatment which probably will help everyone except sod1 and fus.

There is some benefit in having a mutation that causes multiple diseases as it may catch the attention of more researchers

It is very hard on families of course and particularly hard for parents Be especially gentle with the one who must be a carrier. It is a hard burden to know you “gave” your child a mutation however unknowingly and unintentionally. I am glad my mother died before we knew