SCA 44 and GRM1 gene

[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.

[Hidden]

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 in reply to Hidden]

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

[ninotchka]

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

[grubs in reply to ninotchka]

Try omim.org/entry/617691

or just google GRM1 SAC44

[ninotchka in reply to grubs]

Thanks! It worked.

[lonesome]

Hi Grubs....it turns out that we both have SCA44. As its very, very rare....there's a good chance we are related

[grubs in reply to lonesome]

Hi. Maria and her brother Carlo are from Trieste, northern Italy near Slovenia. Where are you from?