Objective: The etiology of MSA remains uncertain. Cholesterol and its metabolism derangements, α-Synuclein and CoQ2 genetic polymorphism have been disclosed to be associated with the risk of MSA.

Background: No comprehensive study of the environmental and genetic risk factors has been done in the Asian population.

Methods: A case-control study is conducted in a Taiwanese population. The patients fulfilled the criteria of possible and probable diagnosis of MSA were enrolled in the special clinics of Movement disorders in one medical center. The functional scores (UMSARS, MDS-UPDRS) and epidemiological questionnaire for environmental exposure risk factors were obtained. The CoQ2 and spinocerebellar ataxia genetic mutation of type 1,2,3,6, and 17 were examined. Serum total cholesterol (T-CHO), triglyceride (TG), anti-TPO and anti-GAD were checked. A group of age- and gender-matched healthy controls (HC) were included in the clinic of family doctor.

Results: The demographic data of 104 MSA patients included are 54 men, 50 women; 21 MSA-C, 62 MSA-P, and 21 mixed MSA; 34 probable MSA, 70 possible MSA; mean age of onset, 63.60 years; median of disease duration, 3.93 years. No mutation of SCA is noted but 4 patients with COQ2 V393A variant; 24 anti-TPO Ab and 8 anti-GAD Ab positive with no association of the score of UMSARS. Of note, the T-CHO and TG levels are significantly lower in 100 MSA patients compared with 88 HC (T-CHO: 117 ± 40.6 vs. 200.42 ± 38.52, TG: 100 vs. 117, p <0.001). The T-CHO is significantly higher in MSA-C compared with MSA-P and mixed MSA arms separately (p = 0.006). Furthermore, the T-CHO level is negatively correlated with the score of UMSARS among total or subgroups of MSA patients (p < 0.001). The exposure to smoking and alcohol drinking is significantly lower in 70 MSA patients compared with 70 matched HC (p < 0.001) or 472 non-matched HC, but not in the exposure of well water or pesticides.

Conclusions: The exposure of smoking and alcohol drinking are lower in MSA group versus healthy control, which is consistent with previous studies in the western population. Of importance, patients with MSA had a lower T-CHO serum level compared with controls. The severity of MSA is negatively correlated with the serum level of T-CHO. Whether systemic lipid metabolism is connected with MSA warrants further study. Regarding the SCA genetic testing in MSA, it is not recommended as a routine examination.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-environmental-and-genetic-risk-factors-in-multiple-system-atrophy-in-a-taiwanese-population/