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What it Means for North American and European Patients

There has been a great deal of chatter in the multiple system atrophy (MSA) community over the last few days regarding a recent genetic study published in the New England Journal of Medicine. The study findings are largely attributed to a group of MSA patients from Japan. In the study it was found that the COQ2 genes were mutated in MSA-C (cerebellar) patients, with the highest correlation found in inherited MSA-C patients. With the heavy emphasis on inherited MSA-C in Japanese patients a few important questions need to be answered for patients here in North America and Europe. Therefore, below we provide a question and answer session about the study with answers provided by Dr. Phillip Low of the Mayo Clinic in Rochester, MN and Prof. Gregor Wenning of the University of Innsbruck in Austria, both of whom provided DNA from groups of patients in North America and Europe, respectively to the study.

Q: How does the recent multiple system atrophy genetic research completed primarily in Japan, translate to North American and European MSA patients?

A: Asian multiple system atrophy is different to European and North American MSA in both phenotype and genetics. We don’t see inherited MSA in North America, however in Asia inherited MSA is not uncommon. In direct contrast to North America and Europe, MSA-C (Cerebellar) is more prevalent in Japanese patients than is MSA-P (Parkinsonian). There were no meaningful mutations in the North American or European groups of DNA samples. All the causative mutations are seen in the Asian study population and all the mutations are in the CoQ10 biosynthetic pathway.

Q: Is this only relevant to MSA-C patients?

A: The findings are relevant to MSA-C and likely mainly to inherited MSA-C.

Q: Which MSA patients should be evaluated for COQ2 abnormalities?

A: There is no case, based on present evidence for genetic testing for non-inherited MSA.

Q: Should the children of multiple system atrophy patients get genetic testing to look for COQ2 mutations?

A: MSA is not inherited in the great majority, especially in North America and Europe. Therefore, there is no evidence to suggest that genetic testing would be useful for the children of MSA patients.

Q: Are any studies planned to evaluate COQ10 in MSA?

A: It is uncertain whether these findings can be translated into a meaningful clinical trial with Q10, especially in North America and Europe where inherited multiple system atrophy is virtually nonexistent.

Q: Should patients be taking COQ10?

A: There is no evidence to suggest that multiple system atrophy patients will benefit from taking CoQ10.