What is ALS & C9 ALS?


ALS, or Amyotrophic Lateral Sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. ALS is not contagious.

The progressive degeneration of the motor neurons in ALS eventually leads to their demise. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, people may lose the ability to speak, eat, move and breathe.

ALS by the Numbers:

  1.   ALS usually strikes people between the ages of 40 and 70.
  2.   Average age at diagnosed is 55.
  3.   Approximately 20,000 people in the US.
  4.   Worldwide is estimated at around 450,000.
  5.   Median survival of three years.
  6.   Based on U.S. population studies, a little over 5,000 people in the U.S. are diagnosed with ALS each year. (That’s 15 new cases a day.)

There are two different types of ALS, Sporadic and Familial.

  1. Sporadic, which is the most common form of the disease in the U.S., accounts for 90 to 95 percent of all cases. It may affect anyone, anywhere.
  2. Familial ALS (FALS) is caused by a mutation and accounts for 5 to 10 percent of all cases in the U.S. Familial ALS means the disease is inherited. In those families, there is a 50% chance each offspring will inherit the gene mutation and eventually develop the disease.

For additional information: ALS Association: About ALS


C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72. This gene mutation and its relationship to ALS/Dementia was only discovered in 2011.

In ALS, the large size of motor neurons is thought to make these cells vulnerable to impairments in normal cell function. Disruptions in C9orf72 protein function may lead to premature motor neuron cell death, resulting in the signs and symptoms of ALS.

The mutation of the C9orf72 gene leads to the production of abnormal C9orf72 gene products that are likely to be toxic to cells and could possibly lead to nerve cell death. If you have a parent or sibling with C9 ALS, there is a 50% chance that you also carry the genetic abnormality that can cause ALS.

For Example:  Dad has 2 Healthy chromosomes;  Mom has 1 Healthy chromosome and 1 Mutated chromosome.  Each child will get a Healthy Gene from Dad.  Each child has a 50/50 chance of getting Mom’s Healthy or the Mutant chromosome. 

C9orf72 by the Numbers:

  • C9orf72 account for 4% of all FAMILIAL ALS cases.
  • C9orf72 Is the 1st mutation found to be a link between Familial Dementia (FTD) and ALS.
  • C9orf72 Mutation repeats and can occur in the order of hundreds.
  • C9orf72 Does NOT skip generations.
  • C9orf72 Does NOT choose by gender.
  • C9orf72 is handed down and pre-determined at conception.
  • The average age at which people develop symptoms of familial ALS is about 10 years younger than people with sporadic ALS.

Sources:  ALS Association; National Institute of Health; ALS Research Collaboration; ALS News Today; Ronald Janca’s personal life and Clinical Trial experiences.