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    C9orf72 Cohort Study

    Well, that was fun……just!

    I spent all day Friday at the Oxford Centre for Brain Research, as a so-called positive control in the C9orf72 Cohort Study being led by Prof Kevin Talbot of the Nuffield Department of Clinical Neurosciences. Three groups of people are being recruited: those with MND caused by a mutation of the gene, those with sporadic MND and no mutation, e.g. me, and healthy subjects (negative controls).

    The aim is to collect all sorts of neurological data and physical samples to try to understand the processes at work in this type of familial MND.

    The project has ethical approval for 300 participants. They would be happy with 100 or a minimum of 60. Currently they have 9!

    Some of the investigations were familiar from other research I’ve taken part in: collection of blood and CSF samples via lumbar puncture; about a dozen different sorts of MRI scans for both imaging and spectroscopy. But two techniques were new to me.

    We started with transcranial magnetic stimulation (TMS) which involved a probe rested against the skull transmitting two magnetic fields that were focussed to coincide in the motor cortex and stimulate a nerve impulse out of the brain and down the arm causing a finger to twitch. This was repeated many times at different field strengths. Electrodes on the hand monitored the strength and quality of the nerve impulse. Though it’s always weird to watch a part of your body move without your intervention, the process was a lot less uncomfortable than the nerve conduction tests most of us have experienced.

    https://en.wikipedia.org/wiki/Transc...ic_stimulation

    Next came magnetoencephalography (MEG), which monitors the very weak natural magnetic signals generated by electrical activity in the brain. These are detected by an array of superconducting quantum interference devices held in something reminiscent of a salon hairdryer placed over one’s head. Electrodes taped around the head, eyes and fingers collect signals generated by inadvertent bodily movement that have to be stripped out to leave the brain signals. The whole thing has to be carried out in a sealed room shielded against the Earth’s and other extraneous magnetic fields.

    https://en.wikipedia.org/wiki/Magnetoencephalography

    While we may be many years away from a cure for MND, nobody should doubt that a huge amount of research is being carried out by teams of dedicated neuroscientists working towards that goal.

    Doug

    #2
    Good for you Doug!

    Let's hope a lot more volunteers sign up...

    Love Ellie.
    ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
    Eye gaze user - No working limbs - No speech - Feeding tube - Overnight NIV.

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      #3
      Well done Mr Carpenter but 9 participants is very disappointing surely - I hope they get more soon to make a reasonable study

      Comment


        #4
        Absolutely Dis.

        This is why I was plugging the MND register recently.

        Doug

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          #5
          I too am taking part in the C9orf72 Cohort Study and have paid two visits to the OHBA for all those tests. I am the one in my family with MND. My four younger siblings have also signed up and three of them have so far been through the process. So we are providing 5 of the 9, it would seem!

          Comment


            #6
            Gosh John, you and your sibling are great to contribute to the study.

            Sorry the C9 mutation affects your family.

            Love Ellie.
            ​Diagnosed 03/2007. Sporadic Definite ALS/MND Spinal (hand) Onset.
            Eye gaze user - No working limbs - No speech - Feeding tube - Overnight NIV.

            Comment


              #7
              Fantastic John!

              Doug

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                #8
                Good afternoon

                I am always willing to help people try every window!

                Quite happy to self fund the trip to Oxford if that will be helpful

                My daughter says she might be willing to join in too.

                Do you have contact details?

                Best

                Andy
                Last edited by nunhead_man; 10 May 2019, 11:04. Reason: Information updated
                Warmly


                Andy

                ​Diagnosed 03/2015. One sided limb onset (arm) sporadic ALS/MND. MND hitting - now 50% left arm and 90% right arm, plus other bits including left shoulder

                "Things turn out the best for people who make the best of the way things turn out"

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