SCA 44 and GRM1 gene: My wife and brother-in-law... - Ataxia UK

Ataxia UK
3,311 members3,559 posts

SCA 44 and GRM1 gene

grubs
grubs

My wife and brother-in-law both have SCA 44, as did their mother. Age of onset about 60. It affects walking, hand and eye movements, speech, and hearing.

We have been looking with interest into the following: Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

ncbi.nlm.nih.gov/pubmed/288......

"Crucially, the gain-of-function mutations could be pharmacologically modulated in vitro using an existing FDA-approved drug, Nitazoxanide, suggesting a possible avenue for treatment" Not tried yet.

5 Replies
oldestnewest

Hello grubs there is no one in the United States to talk to about Ataxia, no one knows what that is. I wish my family didn't have the gene, do anyone suffer from mental behavior as well.

ninotchka
ninotchka
in reply to Julia808

You need to find a neurologist who actually cares, and has some curiosity.

I tried that link and I received a message that "the page does not exist." ????

grubs
grubs
in reply to ninotchka

Try omim.org/entry/617691

or just google GRM1 SAC44

ninotchka
ninotchka
in reply to grubs

Thanks! It worked.

You may also like...