Whole genome sequencing showed i have a mutation: p.Ala99Thr (a99t) in SLC20A2. Mutations in SLC20A2 lead to Fahr's disease, where you become literally a bonehead (calcium deposits in brain) and get parkinsons and get retarded, with symptoms usually starting in 30's and 40's (but very high variance in age of onset).
Not all mutations in this gene are pathologic. My specific mutation is extremely rare and unstudied, we don't know for sure if mine is pathologic. I have a single-point variant, of which 38% are pathologic (according to LOVD).
If I DON'T have pathologic variant, then shoggoths say I have a <1% of showing calcification on CT scan. If I DO have it, supposedly I have ~70% chance of calcification at my current age.
However, the location of my mutation (99) is right at the border of where mutations tend to start getting more pathologic. The most nearby recorded mutations (97, 96, 111) are 2/3 pathologic. Prediction programs (CADD, SIFT, PolyPhen, PROVEAN, etc) strongly predict that it will be pathologic.
I had a scan of my brain done (edit: fMRI) when I was in my early 20's and there was nothing abnormal. I'm currently 33yo.
This is heritable, so this would suggest I should see some of it in my family, if I have it? I don't think I've seen it, and afaik nobody's gotten ct scans of their brain before. I know of no reports of abnormal 'what's happening with this person' issues, but one side of my family has a rare genetic disorder (Loeys Deitz, which I don't have) which leads to a whole host of health issues, and it's possible if that side of the family also has fahr's disease, those symptoms were masked by the other issues, and also a tendency to die early. My mom is exhibiting dementia-like symptoms now (66yo), but so far stuff downstream of loeys-deitz (her surgeries and medications) have seemed like a more-than-adequate explanation for her cognitive symptoms.
I kinda feel like my memory and cognition has gotten worse over the last ~5 years, and have complained about this to people, but people have often said "yeah my brain also gets worse as i age" so ???
I'm scheduling a CT scan now, but will be a bit before I get it.
My question is: Will the radiologist say something like "You seem to have signs of calcification in your basal ganglia"?
(I think basal ganglia is the key area here, but if I gain more info later that is like "actually this other area is real relevant to your mutation too" then i'll count that as a 'yes' condition too)
1,000I just got the images, not interpreted by radiologist yet (will resolve based on their interpretation). I've included screenshots of all the places that have white spots https://postimg.cc/gallery/cwhhbVQ
@Aella You have 31 days left in your trial period. Purchase a license at https://radiantviewer.com/store/
@Aella Would you mind uploading some more screenshots? Some axial views (like brain10 below) roughly covering the slices in red:
(epistemic status complete amateur) judging by references like https://www.radiologymasterclass.co.uk/tutorials/ct/ct_brain_anatomy/ct_brain_anatomy_choroid_calcified, it looks to me like the only calcification is of the choroid plexus, which is expected in adults. I'm pretty sure that if there is any basal ganglia calcification it's extremely minor or not visible in these images?
@maskedtorah Not sure how "There are extremely minor calcifications, fairly common to see at your age on close inspection" would resolve though.
it looks to me like the only calcification is of the choroid plexus, which is expected in adults.
Wait, you're saying it's normal for part of the brain to become bone? Maybe it's just me, but that feels super unnerving even if medically it's actually safe
@Aella You have a minorly calcified pineal gland and choroid plexus calcification, which are both extremely normal with age. you don't have any basal ganglia calcifications from what I can see.
NMA
eesh, yeah you're right, apparently multiple parts of your brain gradually build up so-called "brain sand" until they basically turn to bone O_O
wtf? there's been a big alien-looking cave system right in the middle of the brain this whole time?
@Aella the basal ganglia are not well visualized in these images. Please post the axial stack. The white spots you are seeing in the ventricles are the choroid plexus
@NivlacM I’m now betting that the people betting against people who are betting against people’s sympathies are distorting the market.