ate autonomic symptoms was called Shy-Drager syndrome. By 1989, scientists discovered that the abnormalities under the microscope in the three conditions were identical except for their locations, which overlapped significantly. They coined the term“ multiple system atrophy” as a tribute to the historical notion of three disorders in one. Still, sometimes we still hear these older names used.
8
Is MSA genetic? MSA is not considered an inherited disease, as there have been only a very small number of cases of more than one family member being affected. A variant in a gene called GBA, which encodes the enzyme glucocerebrosidase, has been found to be a little more common in people with MSA than in the rest of the population. The same finding is present in Parkinson’ s disease. However, this cannot be used as a diagnostic test. A variant in a gene called alpha-synuclein( SNCA) occurs more often in people with MSA than in the rest of the population, but this accounts for only a small fraction of the overall cause of the disease and has not been confirmed in further studies. Variants in the gene encoding COQ2, an enzyme that helps in the production of coenzyme Q10, which is important to the production of energy by brain cells, were found in family members with MSA in two Japanese families where multiple members had MSA. When testing this finding among large groups of people with MSA, these COQ2 genetic variants were slightly more common among people with MSA compared to those without MSA, though this was only true in studies done in East Asian populations. Still, the vast majority of MSA is not known to have a genetic cause. Additionally, there have not been confirmed clusters of MSA related to occupation, industry, diet, ethnicity, or geography. However, one study done in North America found that occupational exposure to organic solvents, plastic monomers, metals, and pesticides was slightly higher in people with MSA.
Ultimately, it is not yet known why people develop MSA. For someone who is personally impacted by MSA, we recognize that this can be extremely frustrating and confusing. Researchers and doctors are working hard to understand MSA and other neurodegenerative diagnoses, and we hope this will lead to more answers and treatment options soon.
What research is being done to better understand MSA and find more treatment options? In 2020 alone, almost 500 research papers on MSA were published in scientific journals. As scientists understand more about the various neurodegenerative disorders such as Alzheimer’ s disease, Parkinson’ s disease, progressive supranuclear palsy, Lou Gehrig’ s disease, and MSA, many commonalities among them are being revealed. There is hope that as researchers find prevention or ways of halting the progression of any of these diseases, the discovery could apply to MSA as well.
Some drug companies looking for a way to slow or halt the progression of Parkinson’ s disease are testing their treatments in MSA first, or simultaneously, in relation to the accumulation of the abnormally folded protein, alpha-synuclein. This has brought a wealth of new treatment trials in MSA.