• Posted by Amanda on March 20, 2019 at 7:25 am

    Have you had a chance to read the article ALS and Genetics on ALS News Today?

    “There are two forms of ALS classified according to the underlying cause of the disease: sporadic and familial. Sporadic ALS is the most common, thought to make up at least 90 percent of all cases. In rare cases, ALS can be passed from parents to their children and is called familial ALS.”

    Does ALS run in your family? Do you know which gene is mutated in your family?

    Pham Ngoc Luu replied 5 years, 2 months ago 2 Members · 1 Reply
  • 1 Reply
  • Pham Ngoc Luu

    April 2, 2019 at 11:48 pm

    I and my father got CACNB4 gen mutation. But the CACNB4 is not in ALS genetic panel. I dont know why?




  • Jean-Pierre Le Rouzic

    April 3, 2019 at 2:54 pm

    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.

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