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Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease)

Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis, also known as ALS or Lou Gehrig’s disease, is a neurodegenerative disease which causes the loss of nerve cells in the brain and spinal cord.  While the cause of most cases of ALS is unknown, roughly 20% are of ALS case are caused by inheritance of one of a number of genetic mutations.  Roughly 30,000 Americans between the ages of 40 and 70 are affected by ALS 

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ALS Research at CTRND

Dr. David Borchelt:

Dr. Borchelt’s research into ALS focuses on the role of of pathologic aggregates of superoxide dismutase 1 (SOD1) harboring mutations linked to familial (inheritable) ALS (fALS).  SOD1 is one of the first true fALS genes identified and shows a dominant inheritance pattern.  More than 140 SOD1 mutations, the majority of which are point mutations, have been identified in cases of fALS.