How should ALS be treated? (continued discussion)

[Dagmar Munn]

Note: this is a continuation of the discussion on this topic that was previously posted on 1/8/2020).

From the NIH website https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet

“Who gets ALS?

In 2016 the Centers for Disease Control and Prevention estimated that between 14,000 – 15,000 Americans have ALS.  ALS is a common neuromuscular disease worldwide. It affects people of all races and ethnic backgrounds.

There are several potential risk factors for ALS including:

• Age. Although the disease can strike at any age, symptoms most commonly develop between the ages of 55 and 75.
• Gender. Men are slightly more likely than women to develop ALS. However, as we age the difference between men and women disappears.
• Race and ethnicity. Most likely to develop the disease are Caucasians and non-Hispanics.

Some studies suggest that military veterans are about 1.5 to 2 times more likely to develop ALS. Although the reason for this is unclear, possible risk factors for veterans include exposure to lead, pesticides, and other environmental toxins. ALS is recognized as a service-connected disease by the U.S. Department of Veterans Affairs.

Sporadic ALS
The majority of ALS cases (90 percent or more) are considered sporadic. This means the disease seems to occur at random with no clearly associated risk factors and no family history of the disease. Although family members of people with sporadic ALS are at an increased risk for the disease, the overall risk is very low and most will not develop ALS.

Familial (Genetic) ALS
About 5 to 10 percent of all ALS cases are familial, which means that an individual inherits the disease from his or her parents. The familial form of ALS usually only requires one parent to carry the gene responsible for the disease. Mutations in more than a dozen genes have been found to cause familial ALS. About 25 to 40 percent of all familial cases (and a small percentage of sporadic cases) are caused by a defect in a gene known as “chromosome 9 open reading frame 72,” or C9ORF72. Interestingly, the same mutation can be associated with atrophy of frontal-temporal lobes of the brain causing frontal-temporal lobe dementia. Some individuals carrying this mutation may show signs of both motor neuron and dementia symptoms (ALS-FTD). Another 12 to 20 percent of familial cases result from mutations in the gene that provides instructions for the production of the enzyme copper-zinc superoxide dismutase 1 (SOD1)”

So, this sounds to me that each specific type of genetically linked ALS should be treated differently based on how that mutation disrupts the body. I know from the research I participate in focusing partially on the SOD1 mutation, there is some link to with the SOD1 mutation  protein deposits in a body. The C9 mutation (C9orf72) that was discovered in 2011 was the first pathogenic mechanism identified to be a genetic link between familial FTD and of ALS.

I’ve seen several post that describe ALS as a catch all for motor neuron diseases as there appears to possibly be multiple causes that have the same end results.

What are your thoughts? Is this common sense or am I over thinking, again? If you are a pALS, is your sporadic or familial?

[Lisa Bonahoom]

I have genetic ALS due to a mutation in the C9orf72 gene.  I have 2 other siblings that are positive for the gene and two more being tested.  The last one doesn’t want to know, and has no children.  I have Bulbar Onset, my sister has Limb Onset, and my brother has no symptoms yet.  We all want to be treated like the people we are.  Our disease is not contagious!   I laughed today when I saw a line: slurring words is just talking in cursive!   I can hear and think clearly!

[Kathryn F. Kennedy]

I too have genetic ALS due to a mutation (CR9orf72).  I am the 7th family member from my Mother’s side of the family (great grandmother, her 2 sisters, and an aunt, and a 1st and a 2nd cousin).

Have 1 surviving sibling with 2 sons and they are not willing to be tested.  I understand their reluctance — not a damn thing they could do about it as of now.  BUT they will be tested when a delay or cure is discovered which is imminent l!

 

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