Thought I had Sporadic Cerebellar Ataxia but my Ataxia is due to Niemann Pick C disease (late/adult onset)...

[february]

I was diagnosed with Sporadic Cerebellar Ataxia (idiopathic) when I was 49 years old. Over the years, I had genetic testing for the more common dominant and recessive ataxias, which were always negative. In 2017, I had genetic exome testing which showed I had one Niemann Pick C (NPC) gene. My neurologist said nothing to worry about as I didn't have two genes. After talking to another neurology ataxia specialist, I asked to be tested for NPC. Therefore, after a skin biopsy followed by a blood test, it was confirmed I had ataxia due to Niemann Pick C disease. I have one faulty NPC gene and one unknown variant. It's recessive, which means I got the faulty gene from one asymptomatic parent and the unknown variant from the other. I'm 68 years old now, which means I've had ataxia for 20+ years. If possible, I wanted to know what kind of ataxia I had because I have two adult children. Apparently, one or both may be a carrier, but neither one has ataxia! NPC is extremely rare, especially late/adult onset and is difficult to diagnose! Anyway, I'm telling my story because it may help someone else with ataxia. Sorry for the length of my post...

[Hidden]

It may be possible that you have Ataxia as a symptom and not ataxia as the condition. In other words you may have Niemann Pick C disease with ataxia as a symptom. Just a thought. Here is a link: npuk.org/niemann-pick-disease/

[february in reply to Hidden]

You are correct! My ataxia is a symptom of Niemann Pick C disease. ;o)