Gene variant in 2005 : Hey everyone!! I have a... - Ataxia UK

Ataxia UK

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Gene variant in 2005

Episodic_Ataxia profile image
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Hey everyone!! I have a diagnosis of Episodic Ataxia and recently seen my new neurologist that’s very knowledgeable in the area and knows my entire family history , took care of my other family members with Ataxia. I’ve recently had my appointment and got straight up answers on what I was seeking for a long time. For the longest time, many told me I had a normal MRI with nothing showing evidence of cerebellar degeneration.(Ataxia) but according to my new neurologist, I had at least 5 MRI’s done in the past if not a couple more before the year of 2008. But he had in my documents the last 5 I had done, in the past. He did indeed say I had cerebellar atrophy but there hasn’t been any significant changes with the atrophy from 2008 to 2017. And now he’s referred me to a geneticist for some answers in finding my gene variant for Ataxia. I’m so very grateful not that I have this disease but that I’m finally getting the answers I’ve been seeking. And have wondered for a long time. I had testing by Athena in the past in 2005 but at the time the gene variant found wasn’t known also known as an inconclusive test result. Now I’ve been kinda wondering, does it look familiar to anyone here now? What are the chances of it being known now? Does it look familiar? What does it mean? Results PRK CGG?

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