• Pham Ngoc Luu posted an update 3 years, 6 months ago

    @jplerouzic Hello sir, i saw a reply from you. Do you mean CACNB4 mutation gene is normal in ALS disease? But i have never heard any patient with that mutation gene. Could you please give me more information? Thank you very much.
    “Hi Pham Ngoc Luu,
    From Wikipedia: This gene encodes a member of the beta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization
    CA+ receptors have been associated with ALS. There are several theories, the oldest is perhaps the “excitatory” one, but there are other, one recent is about the AMPA receptor.

    From Wikipedia again: Excitotoxicity, or nerve cell death caused by high levels of intracellular calcium due to excessive stimulation by the excitatory neurotransmitter glutamate, is a mechanism thought to be common to all forms of ALS. Motor neurons are more sensitive to excitotoxicity than other types of neurons because they have a lower calcium-buffering capacity and a type of glutamate receptor (the AMPA receptor) that is more permeable to calcium. In ALS, there are decreased levels of excitatory amino acid transporter 2 (EAAT2), which is the main transporter that removes glutamate from the synapse; this leads to increased synaptic glutamate levels and excitotoxicity. Riluzole, a drug that modestly prolongs survival in ALS, inhibits glutamate release from pre-synaptic neurons; however, it is unclear if this mechanism is responsible for its therapeutic effect.”

    • Hi Pham Ngoc Luu,

      You are right, CACNB4 mutation gene is not usually associated to the ALS disease.
      It just strikes me that one mechanism (ca+ receptors like AMPA), which is associated with neurotoxicity and ALS, may also be related to this gene.
      From the literature it seems to be associated with ataxia and myoclonic epilepsy.
      Myoclonic epilepsy looks like an ALS mimic (very similar symptoms).
      Are you diagnosed for ALS or for something else?
      If you are diagnosed for ALS and if you have a CACNB4 mutation, I would question the ALS diagnosis.

      Best regards,


      PS: I am not a doctor nor a scientist.

©2022 KLEO Template a premium and multipurpose theme from Seventh Queen


We're not around right now. But you can send us an email and we'll get back to you, asap.


Log in with your credentials


Forgot your details?

Create Account