Sca45

[Sea_]

I just received a letter today from my neurologist saying that genetics have found an abnormality of uncertain significance on my ataxia panel. It’s a variant of the SAT2 gene which is associated with spinocerebellar ataxia type 45(SCA45)a autosomal dominant disorder The variant identified (c.8779A>T p(Th2927Ser) which causes an amino acid change from Thr2Ser at position 2927Don’t know if pathogenic or benign it’s very rarely reported . Idont see my neurologist until 9/11 does anyone have experience of this?💕🤗

[PatsyIpswich]

No but interested to see your responses. Hopefully x

[Rezzy3]

Hello Sea, I too just recently found out I have a severe genetic deficiency but it was through my GP as he was testing me for MTHFR deficiency. None of my neuros were able to find the cause of my ataxia so mine falls under the idiopathic category I believe. I’m not well versed in the genetic terminology but I have two gene mutations. c665C>T GA and c 12864>C GT

As explained to me in simple terms by my physician, I am unable to process folic acid and amino acid. Any foods that have any type of processing or have been enriched contain a synthetic folic acid. This is why eating certain foods make me feel drunk and disoriented. The gluten sensitivity that showed up on another test can be attributed to the same condition. The intake of synthetic folic acid then becomes toxic to my body

Since I have never been able to process folic acid efficiently, the cerebellum never regenerated cells over my 57 years. This is why mri of the cerebellum appears to be deteriorating.

In the states, my nephew is a pediatric oral surgeon and he said it’s standard now to test children for MTHFR deficiency before surgery because anesthesia can actually cause death. I wish they had me tested 50 years earlier. The list of prescription medications that I cannot take is 5 pages long . I’m pretty sure I may have taken some in the past.

It all sounds like a feasible explanation but at this point all I can do is vigorously take the supplements and eat the proper foods to offset the deficiency.

I would love to hear the response to this as this is all new to me. Wobblybee always has very good information and insight so I look forward to that response.

It’s a long hard journey but sometimes we have to endure the suffering to show others how to persevere. My apologies for the long ramble. I just got an unusual urge when I saw another member with a similar gene mutation.

[Driven1 in reply to Rezzy3]

It is all here the life cycle of cerebellum from womb to death

Testing diagnosis and deterioration

frontiersin.org/articles/10...

[Rezzy3 in reply to Driven1]

This is a great read. It is very in depth but it sheds a lot of light as to how and why we move like we do when diagnosed with ataxia.

Much appreciated!

[wobblybee in reply to Rezzy3]

🙂 Thank you for posting this explanation..it’s always interesting to hear something new..but I’m so sorry you’ve waited until now to find out.

Gluten Ataxia is quite often mentioned as an Autoimmune type..but..I don’t recall anyone mentioning your specific diagnosis..or seen any reference of folic-acidic acid being a potential cause of toxicity …and I would think Acquired Ataxia.

🤔 I’ve recently seen somebody give a reference to MTHFR on a different group…I’ll look for it.

[Sea_ in reply to wobblybee]

Thank you very much and ataxia uk are asking their research area if they have any information too. Just wanted to get as much information as possible before I see my neurologist in a months time. X

[Rezzy3 in reply to wobblybee]

I had a feeling you would dig into this subject a little more. I’ve read many of your posts and they are typically backed by scientific data. My GP basically said although he’s not an expert in the genetic field his hypothesis may be an explanation as to the probable cause but he is unable to find hard data supporting it. However he believes in a naturopathic approach and is using nutritional changes to offset any deficiencies I have.

I’m sure any information you find would be greatly appreciated on this topic for all to read.

Keep smiling and keep moving!

[Sea_ in reply to Rezzy3]

Thank you 😀 I’ll let you know and the article is very interesting x

[Sea_ in reply to Rezzy3]

Thank you I am so sorry you’re feeling so unwell. I’ve gone hyperactive in thyroid recently and the Carbimazole is grinding me to a halt so hopefully I can at least reduce it soon at least 🤞

We have to be so strong 🤗

[wobblybee]

🤔I found this..

A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-45 (SCA45) is caused by heterozygous mutation in the FAT2 gene (604269) on chromosome 5q33.

omim.org/entry/617769#:~:text=