Session Information
Date: Tuesday, September 24, 2019
Session Title: Dystonia
Session Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
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)
Method: We enrolled 8 families with (192 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. All onsite staff remain blinded to the genetic status of participants. One movement disorder specialist did rate 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. An exploratory analysis was done in STATA 15,1 using a linear mixed effect model for each of the primary outcome of interest (MDSUPDRS III and BFM) against the exposure interest (genetic status) with and without symptoms adjusted for age and age of onset.
Results: Among 8 families visited for 6 months, 27 of 33 were haplotype (+) symptomatic males and the remaining 6 were haplotype (+) asymptomatic males. In our annual visit, we have seen 6 of the 8 families with 16 of 17 haplotype (+) symptomatic males and a haplotype (+) asymptomatic (Table 1). As expected, 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 (Table 2).
Conclusion: 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. While we have continuously captured the symptomatic participants, the asymptomatic participants have proved to be more elusive at follow up visits. Going forward, the loss to follow up of asymptomatic subjects will be the most challenging aspect of the longitudinal study especially if we want to capture the earliest symptoms of disease. This preliminary data will inform a 5 year prospective longitudinal study to further characterize both onset and progression of disease.
References: 1.Lee LV, Rivera C, Teleg RA, Dantes MB, Pasco PM, Jamora RD, et al. The Unique Phenomenology of Sex-Linked Dystonia Parkinsonism (XDP, DYT3, “Lubag”). Int J Neurosci In press. 2.Rosales.R.L X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics. J Mov Disord. 2010 Oct;3(2):32-8. doi: 10.14802/jmd.10009. Epub 2010 Oct 30. Review 3. Lee LV, Maranon E, Demaisip C, Peralta O, Borres-Icasiano R, Arancillo J, et al. The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP). Parkinsonism Relat Disord 2002;9:29–38. 4. Evidente VG, Advincula J, Esteban R, Pasco P, Alfon JA, Natividad FF, et al. Phenomenology of “Lubag” or X-linked dystonia-parkinsonism. Mov Disord 2002;17:1271–1277. 5. Lee LV, Kupke KG, Caballar-Gonzaga F, Hebron-Ortiz M, Müller U. The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. Medicine (Baltimore) 1991;70:179–187.
To cite this abstract in AMA style:
P. Acuna, J. de Guzman, N. Ganza-Bautista, J. Lagarde, C. Go, N. Sharma. Prospective Characterization of Genetically Confirmed X-linked Dystonia Parkinsonism Patients and their Families: A 1 year longitudinal feasibility study [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/prospective-characterization-of-genetically-confirmed-x-linked-dystonia-parkinsonism-patients-and-their-families-a-1-year-longitudinal-feasibility-study/. Accessed September 7, 2024.« Back to 2019 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/prospective-characterization-of-genetically-confirmed-x-linked-dystonia-parkinsonism-patients-and-their-families-a-1-year-longitudinal-feasibility-study/