The viral “ice bucket challenge,” pervasive on social media for the past few months represents only a fraction of time compared to the decades-long research of Amyotrophic Lateral Sclerosis (ALS) conducted to date. Even so, the condition remains poorly understood.
Commonly known as Lou Gehrig’s disease, ALS is a degenerative motor neuron disease and is grouped with such neurodegenerative conditions as Parkinson’s disease and Alzheimer’s disease. ALS is a debilitating condition; patients in its advanced stages struggle with motor tasks as seemingly simple as opening a paper or even scrolling through a web page.
ALS patients experience a progressive loss of voluntary muscle movement due to the weakening and death of motor nerve cells in the brain and spinal cord. Lacking the communication from the nervous system, voluntary muscle cells atrophy (waste away) and progressively lose functionality.
In the latest stages of the disease, a patient’s brain is unable to initiate or control muscle movement, and he or she is dependent on ventilator support to breathe. ALS patients maintain the ability to see, hear, taste, smell and sense physical touch, and the mobility of eye muscles is unaffected. A patient’s intelligence is likewise unimpaired as the disease progresses, though the ability to speak is compromised. The ALS Association reports that life expectancy ranges from two to five years following diagnosis.
The cause or causes of ALS remain unknown, but the National Institute of Neurological Disorders and Stroke (NINDS) reports that over a dozen genetic mutations have been linked to the disorder, and any one of these might point to a possible cause.
What research has uncovered is that ALS, though rare (affecting 3.9 individuals per 100,000 U.S. population, according to NINDS), is one of the most common neuromuscular diseases around the world. There have been cases in every race and ethnic group, but ALS is most commonly experienced by individuals between the ages of 60 and 69, non-Hispanics and white males. It is more common in men than women.
The vast majority of ALS diagnoses are non-heritable and are referred to as sporadic cases. Only about 5 to 10 percent of diagnoses are familial, according to NINDS. Of these, about a third have been linked to a defect in the gene C9orf72 (or chromosome 9 open reading frame 72) whose function remains unidentified.
As far as a cure or even treatment for ALS goes, scientists are still largely in the dark. The primary avenue of research is building an understanding of what causes the initial degeneration of motor neurons at the onset of the disease. Facets of this research include investigation of possible genetic links and the development of stem cells from patients’ skin cells.
Potential therapies are another component of ALS research; investigations currently focus on drugs, gene therapies, and cell-based treatments. The most significant development in drug therapy, according to NINDS, was the Food and Drug Administration (FDA) approval of the first drug treatment for ALS specifically in 1995. Riluzole, or Rilutek, is suggested to decrease neuron damage, and clinical trials of the drug have shown it may increase a patient’s life expectancy by up to a few months.
Grand Rapids’ Van Andel Institute (VAI), established in 1996, has had a Center for Neurodegenerative Science since 2011. That same year, according to Verge magazine, Allison Schepers (then a Calvin College senior) worked in the VAI as an intern studying ALS. The VAI expanded this past March with the hire of two specialists in the field of neurodegenerative disorders.
