Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that affects motor neurons and causes trouble with muscle movements like speaking, walking, or gripping.
ALS affects an estimated two to five per 100,000 people worldwide.
Only a small percentage of cases have a known genetic cause.
Between 1 % to 5% of ALS cases are caused by a mutation in the FUS gene.
This type of ALS often progresses more rapidly and symptoms appear at a younger age.
When Amyotrophic Lateral Sclerosis (ALS) symptoms emerge during adolescence, mutations in the FUS gene are likely to blame, findings from a case report suggest.
Mutations in this gene also are the cause of some adult-onset ALS cases.
However, FUS-associated ALS is more aggressive in children in whom these mutations more profoundly affect the biological mechanisms of the FUS protein, research indicates.
While ALS affects mostly adults at advanced ages, the disease also can manifest before the age of 25 (juvenile ALS), or even before adulthood (pediatric ALS).
In adults, only about 10% of cases are caused by genetic mutations,
but the number of ALS cases caused by known genetic mutations appears to increase significantly in early-onset disease.
FUS is the most commonly mutated gene in juvenile and pediatric ALS, but it causes only about 5% of cases in adults.
It is unclear why younger patients with FUS mutations exhibit a more aggressive disease course than adults. In adults, only about 10% of cases are caused by genetic mutations, but the number of ALS cases caused by known genetic mutations appears to increase significantly in early-onset disease.
ALS is also called:
Lou Gehrig’s disease and motor neuron disease.
Interested in participating in the FUSION study?
Take our questionnaire to find out if you may be eligible.