Living without a cerebellum: Hi all Hope you are... - Ataxia UK

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Living without a cerebellum

14 Replies

Hi all

Hope you are all well.

Been reading some interesting stuff on the internet about people born without a cerebellum. Worth a read.

I also have a question, do you think that you suffer more in really cold or hot weather?

Stay safe all.

Who Cares Wins.

14 Replies
Sailor_Girl profile image
Sailor_Girl

Hi Paul

Can you post a link to the article please

in reply toSailor_Girl

Hi Sailer_Girl

Apologies but I am having problems sending the link but if type Living without a Cerebellum in Google it will come up with several different websites.

The one that is titled: A man’s incomplete brain reveals Cerebellum’s role

This is interesting as he was used for research and it was found that the Cerebellum could be responsible for more than we think.

Hope this is ok.

Sailor_Girl profile image
Sailor_Girl in reply to

Thanks for some more details Paul, it's an interesting subject

Excessive cold is worse for me. Heat might make me lethargic but cold makes my movements feel 'sticky' if that makes any sense.

wobblybee profile image
wobblybee

The cerebellum is a portion of the brain that is responsible for fine motor movements including posture, balance, motor learning (like learning to kick a ball), and speech. Located at the base of the skull, the cerebellum contains about half of all neurons in the brain, though it represents only 10% of the volume. Losing partial function due to injury or disease isn’t completely unprecedented, though lacking a cerebellum from birth is exceedingly rare. Physicians in China discovered a 24-year-old woman who is only the ninth known case of a living person with cerebellar agenesis. Her condition was described in the journal Brain.

The woman’s condition was discovered after she sought medical attention due to nausea and vertigo. CT scans and MRI images revealed the missing cerebellum, which readily explains why those symptoms would be present. It also explains why she wasn’t able to speak until she was six and wasn’t able to walk until age seven. She had never been able to play and jump like normal kids due to this defect.

Unsurprisingly, the woman had been unable to walk steadily without support throughout her life.

While testing revealed that she had no trouble understanding vocabulary, the missing cerebellum caused her to have difficulties with pronunciation. Her voice trembles, words are slurred, and the doctors described her voice tone as “harsh.” Even still, the doctors were amazed that her symptoms were more in line with a mild to moderate impairment, not a complete absence.

In the space where the cerebellum should have been, cerebrospinal fluid has filled the gap. The chemistry of the fluid appeared normal, though the pressure was a bit high. Initial measurements read 210 mm H2O, exceeding normal limits of 70-180 mm H20. She was treated with a dehydration treatment that removed some of the water pressure along with other techniques that were less invasive, which provided immediate and lasting improvement of her symptoms. Even at a follow-up appointment four years later, she was still doing quite well.

Neurological defects do not appear to run in her family, and she was able to get married and have a neurologically-typical daughter without pregnancy complications. The structures and tissues surrounding the missing cerebellum appear to be mostly well-formed with no signs of extreme defects. The pons appeared underdeveloped, but considering part of its job is to convey messages from the frontal cortex to the cerebellum, that’s not completely surprising.

As the condition is so rare, it isn’t very well understood how it occurs. While there are about 30 mutations associated with disorganized cerebella, complete absence of the structure is a bit tougher to figure out. This woman represents a very unique opportunity to study the effects of this disorder in a living adult. It isn’t known how her condition will change as she ages, but the fact that she has made it this far is a testament to the plasticity of the brain.

Copied from iflscience.com

Sailor_Girl profile image
Sailor_Girl in reply towobblybee

Thanks Wobblybee. I wonder why it says unsurprisingly she learnt to walk unaided? I'll have to do some more reading.

wobblybee profile image
wobblybee in reply toSailor_Girl

🙂There are definitely some surprises when you start to delve into things. It surprises me that anybody without a Cerebellum can walk unaided. Going into Waitrose, the person in front had two prosthetic legs..and had better balance than me 🙂

Sailor_Girl profile image
Sailor_Girl in reply towobblybee

Losing your sense of balance will be different to never having experienced it.

wobblybee profile image
wobblybee in reply toSailor_Girl

I agree..I think I’ve read this right 🙂 I had perfect balance until my early 40s, then Vestibular problems emerged along with Cerebellar Atrophy, so it’s a continual adjustment for me.

For someone suddenly losing their legs, and then having the challenge of prosthetics, maintaining balance may be a totally different experience because their Cerebellum is unlikely to be unaffected. But never the less it’s a real challenge, and something that amazes me.

But I think that someone who experiences any disability from birth is more likely to cope better, they have no idea how it feels to be otherwise.

Sailor_Girl profile image
Sailor_Girl in reply towobblybee

How may this be usefully employed to inform people beginning to experience the effects of cerebellar atrophy?

wobblybee profile image
wobblybee in reply toSailor_Girl

🤔 Interesting......I expect other people will have their own thoughts about this.

When I first experienced a fluctuation in balance I wasn’t too concerned until it became a constant sensation, but it never occurred to me that the cause would be so serious, or that it could have a knock-on effect with many bodily functions.

For me, having Cerebellar Atrophy doesn’t only relate to poor balance associated with Atrophy. A major issue I have which also greatly compromises my balance relates to Vestibular problems (eyes and ears).

The Cerebellum is similar to a major control centre, but if someone is born without a control centre, it seems something else can take its place, or ‘ over-ride’ it. And if a body can function near normal without the Cerebellum, why does Atrophy cause so many problems...🤔

in reply towobblybee

Hi Wobblybee

Hope you are happy

If you are born without a Cerebellum the rest of the brain tries to take over the responsibilities of the missing part of the brain this is because the brain develops at a much quicker pace when your very young, but it’s a bit like a goal keeper trying to do a players job he/she might know what needs to be done but just can’t do as good as job as the players.

Dizziness and balance are much linked together in my opinion as if you get really dizzy then your balance is not good. Of course several things can cause dizziness from crystals loose within the inner ear to a problem stemmed from the brain. I have SCA 6 and balance and dizziness is part and parcel of this condition. About a year ago I asked a chap called Professor Henry Houlden who works at Queens Square London his laboratory works on the genetics of neurodegeneration, peripheral nerve disease, ataxias, and paroxysmal movement disorders if you can get medication for dizziness/balance problems and the answer was a straight NO. I even thought sea sick tablets might help in my early days.

This is my own R rate on covert

Risk vs Reward

You Stay Safe my Friend.

Who Cares Wins.

wobblybee profile image
wobblybee in reply to

🙂 Thank you Paul. Finding something to help alleviate BPPV (Benign Paroxysmal Posterior Vertigo) has been challenging. This might be of interest to you. I was referred to Queen Square myself, and from there I was given a referral to a Specialist at The Royal National Nose,Throat and Ear Hospital in London. He prescribed Flunarizine.

I did take this for a short while, too short a time to verify whether it was helping. The reason being, it was stressed that this medication might cause specific thoughts, and I was feeling depressed..it worried me and I stopped taking it.

Since then I’ve regretted not giving it a fair chance, and have often considered giving it another try 🙂

Look after yourself, and stay safe 🙂

pinjem profile image
pinjem

Yes, hot weather at night especially makes me unable to cope, combination of a lack of sleep and discomfort. I am OK if the night is cool. During daytime if I can spend some time cooling down I am OK then.

wobblybee profile image
wobblybee

🤔 Both excessive cold, and excessive heat, have their challenges, and effect me differently.

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