Prospective Characterization of Genetically Confirmed X-linked Dystonia Parkinsonism Patients and their Families: A 1 year longitudinal feasibility study

Objective: A one year feasibility study for a planned prospective longitudinal study of X-linked Dystonia-Parkinsonism patients and their families in rural Philippines. Background: X-linked dystonia parkinsonism (XDP) occurs primarily in Filipino males with maternal ancestry from the island of Panay and is characterized by neurodegenerative disease with dystonia and parkinsonism. There have been numerous descriptive studies but no systematic prospective study of the natural course of the disease using objective scales. (1–5) Design/Methods: We enrolled 8 families (190 subjects; 35 haplotype positive males, 27 of which were symptomatic at enrollment). Follow ups were scheduled every 6 months for all males and every year for all females. One movement disorder specialist did a blinded rating od subjects on both the MDS-UPDRS part 3 and BFM dystonia scale using a combination of in-person exam and review of a standardized video protocol. Results: Among 8 families visited for 6 months follow up, 27 of 33 were haplotype (+) symptomatic males and the remaining 6 were haplotype (+) non-manifesting carrier (NMC) males. In our annual visit, we have seen 23 of 27 haplotype (+) symptomatic males and 4 haplotype (+) NMC males (Table 1). Both control and NMC were essentially the same at 0 during baseline without any statistically significant change over time while symptomatic BFMM = 33.06 and MDS-UPDRS part3 = 33.26 at baseline (Table 2) with a change of 3.76 and 4.16 respectively every 6 months. Conclusions: We have demonstrated that it is feasible to do a prospective longitudinal study in whole families who are confirmed as having the X-linked Dystonia Parkinsonism haplotype. The symptomatic haplotype positive subjects had the only statistically significant results in both MDS-UPDRS part 3 and BFM movement at baseline and through time. This preliminary data will inform a 5 year prospective longitudinal study to further characterize both onset and progression of disease. Disclosure: Dr. Acuna has nothing to disclose. Dr. De Guzman has nothing to disclose. Dr. Ganza-Bautista has nothing to disclose. Dr. Lagarde has nothing to disclose. Dr. Go has nothing to disclose. Dr. Sharma has received personal compensation in an editorial capacity for received honoraria for serving as associate editor of Brain and Behavior, a journal published by John Wiley a Sons.