P.024 Pain in monogenic Parkinson’s Disease

Abstract

Background: Pain is one of the most bothersome symptoms reported in Parkinson’s disease (PD), yet its underlying pathophysiological mechanisms are not well understood. Its prevalence and effects on quality of life in patients with monogenic forms of PD have not been systematically explored. Methods: Comprehensive literature review exploring the association between monogenic forms of PD (SNCA, PRKN, PINK1, DJ1, and LRRK2) and pain. We included pain in ATP13A2, VPS35, and GBA1 mutation carriers. After initial screening, sixty-five relevant articles were identified. Studies’ design, sample sizes, and pain outcome measures were highly heterogeneous. Results: Our review suggests that patients with some PD monogenic causes show a higher prevalence of specific pain subtypes. While painful foot dystonia is more frequently reported in SNCA and PRKN carriers, the last ones also describe frequent lower back pain mostly. Pain in general is most commonly reported in PINK1 mutation carriers followed by patients with LRRK2 mutations. Pain as an initial symptom and severe symptom is well described in GBA1-PD patients. There is limited and insufficient evidence to report on pain and ATP13A2, DJ1, and VPS35 mutations. Conclusions: Linking genetic profiles to pain outcomes may have a meaningful clinical impact, facilitating individualized treatment for pain in PD.