Objective: Τo assess whether autonomic dysfunction occurs in p.A53T SNCA mutation carriers manifesting Parkinson’s Disease (A53T-PD), using both subjective and objective measures and to compare these data with those corresponding to GBA PD and idiopathic PD (iPD).

Background: It is known that in PD there are non-motor symptoms like autonomic dysfunction. However, we do not know much about the epidemiology of dysautonomic symptoms due to unclear definitions and the lack of objective methods.

Method: We have assessed 9 A53T-PD, 8 GBA PD and 9 iPD, with non-invasive autonomic function tests in our laboratory: Heart rate (HR) and blood pressure response to standing, HR variability during deep breathing, blood pressure response during sustained Hand Grip, and Valsalva ratio. Additionally we assessed the SCOPA-AUT for autonomic dysfunction, the Montreal Cognitive Assessment (MOCA) for cognition, the modified Hoehn & Yahr (H&Y) scale at the ON state. We calculated a SCOPA-AUT subscore comprising questions about cardiovascular function (named SCOPA-C), and we recorded how many patients had ≥2 pathological tests in the laboratory (AUT≥2). We also recorded age at the time of the study, PD duration, sex and the presence or not of fluctuations. All 3 groups were age, PD duration and MOCA matched.

Results: In our cohort 87,5% of Α53Τ-PD had AUT≥2, significantly higher compared to 28,6% of GBA-PD (p=0,041) and also higher compared to 44,4% of iPD but not statistically significant (p= 0,131). As far as clinical scales and questionnaires are concerned, in A53T-PD Η&Υ was statistically significant lower compared to GBA PD (p=0,028) and SCOPA-C was significantly higher compared only to iPD (p=0,029). So we see a mismatch between the results of objective versus subjective measures.

Conclusion: Autonomic dysfunction seems to occur in the majority of PD-A53T, in contrast to other genetic forms of PD. These initial results indicate that A53T-PD may have a greater burden on autonomic nervous system (ANS) function than GBA-PD and iPD. Because of the small number of tested patients further studies are needed to see if there is a specific pattern that characterizes the function of ANS in patients carrying the A53T SNCA mutation in Greece. Studies of this genetic subtype of PD may lead to insights into disease pathogenesis, as well as aid in patient stratification, prognosis, and eventually monitoring of specific therapeutic interventions.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/autonomic-dysfunction-in-p-a53t-snca-pd-vs-gba-pd-and-idiopathic-pd-a-study-in-a-greek-population/