A Community-based study on the prevalence and predisposing factors of Parkinson's disease in Barangay Mangilag Sur, Quezon Province, Philippines.

Introduction: Prevalence of Parkinson's Disease (PD) in the Philippines has been estimated to be < 1 % based on a 2007 nationwide survey conducted by the Philippine Neurological Association, but without case ascertainment. Since there is still paucity of data, we aim to determine the prevalence of PD in a rural community and the possible predisposing factors on the development of the disease. Methods: This is a two-phase descriptive study which investigated the prevalence of PD and associated risk factors in a randomly selected rural community in Candelaria, Quezon Province. A validated screening questionnaire was utilized, and case ascertainment was done in eligible respondents. Results: A total of 365 respondents aged ≥ 20 years were randomly surveyed from 2016 to 2017. Two cases of PD aged ≥ 60 years were reported. Thus, the prevalence of PD in the community was 0.55 %. Age-specific prevalence of PD among individuals ≥ 60 years was 4.35 %.Insecticide use was infrequent in the community and was recorded in one PD patient. Protective factors like smoking and drinking tea were not observed in both cases whereas coffee intake was reported in one PD patient. Conclusion: This community-based epidemiologic study on PD is consistent with a nationwide study. The study portrayed certain demographic and environmental features inherent in a community, which are potential confounding variables in PD development. Future larger population studies be recommended to establish PD in the advancing age and to further support the link of various factors with PD.

Long-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature.

INTRODUCTION: X-linked dystonia-parkinsonism (XDP/DYT3/Lubag) patients had improved dystonia and parkinsonism with bilateral pallidal deep brain stimulation (DBS) in the literature. METHOD: We reviewed eleven XDP patients who underwent bilateral pallidal DBS from October 2009 to September 2018. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Unified Parkinson's Disease Rating Scale (UPDRS)-III scores were reviewed from baseline up to the longest follow-up together with the demographic and clinical data. The published case reports on DBS in XDP were also reviewed. RESULTS: The mean age was 39 ±â€¯9.2 years with a mean disease duration of 3 years (range 1-9 years). An immediate response for dystonia post-DBS (1 month) was seen in all cases, with a mean BFMDRS score of 23.3 ±â€¯12.12 [from a mean baseline of 36.3 ±â€¯12.1] and a small change in the mean UPDRS-III score of 20 ±â€¯10.39 [from a mean baseline of 24.04 ±â€¯8.74]. At 12 months (n = 10), the mean BFMDRS score was 13.7 ±â€¯10.63 and the mean UPDRS-III score was 19 ±â€¯13.19. There was improvement in the clinical and functional stage of the patients, with majority in Stage 1 (n = 3) and Stage 2 (n = 5) at their last follow-up. CONCLUSION: Bilateral pallidal DBS should be considered as a treatment option for XDP. It is effective in the first 12 months in controlling dystonia with variable response in controlling parkinsonism. It may be effective in up to 72-84 months, as seen in three patients.

Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism.

Importance: Anecdotal evidence suggests that deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in ameliorating dystonia in X-linked dystonia parkinsonism (XDP), a disease that is usually refractive to medical therapy. Objective: To determine the efficacy of GPi-DBS in a cohort of patients with XDP in a prospective study and identify predictors of postoperative outcomes. Design, Setting, and Participants: This observational prospective cohort study enrolled patients in February 2013 and was completed in December 2014. The patients were followed up for up to 46 months. Patients from the Philippines were treated in a single center in Lübeck, Germany and followed up in the Philippines. Sixteen men with XDP (mean [SD] age, 40.9 [7.3] years; disease duration, 1-6 years) from the Philippines with predominant dystonia were selected. Exposures: All patients underwent bilateral GPi-DBS in Lübeck, Germany. Main Outcomes and Measures: Clinical assessment included the motor parts of the Burke-Fahn-Marsden scale (BFMDRS-M) and the Unified Parkinson's Disease Rating Scale (UPDRS-III). T1-based basal ganglia volumetry was performed and correlated with postoperative outcomes. Results: The study participants included 16 Filipino men (mean age, 40.9 years). Masked video ratings revealed significant improvements of dystonia severity 1 week (-55%; range, -94% to 59%; P < .01) and 6 months (-59%; range, -100% to 22%; P < .001) after surgery. The UDPRS-III score also improved, albeit to a lesser extent (-19%; range, -54% to 95%; and -27%; range, -70% to 124%; respectively). Unmasked long-term follow-up confirmed the continued efficacy of GPi-DBS up to 46 months after surgery. Important secondary end points improved, including activities of daily living, pain severity, weight, and quality of life. Caudate atrophy was a predictor of a less beneficial outcome (r = 0.817, P = .004). Conclusions and Relevance: Internal globus pallidus DBS had a positive association in XDP with predominant dystonia (the primary end point) and contributed to an improved quality of life (the secondary end point). The response to DBS occurred within 1 week. Given the inverse correlation of postoperative benefit and caudate atrophy, GPi-DBS should be considered early during the disease course. Close international collaboration, training, and funding from multiple sources enabled the sustainable follow-up of patients with XDP in the Philippines.

Defining spasticity: a new approach considering current movement disorders terminology and botulinum toxin therapy.

Spasticity is a symptom occurring in many neurological conditions including stroke, multiple sclerosis, hypoxic brain damage, traumatic brain injury, tumours and heredodegenerative diseases. It affects large numbers of patients and may cause major disability. So far, spasticity has merely been described as part of the upper motor neurone syndrome or defined in a narrowed neurophysiological sense. This consensus organised by IAB-Interdisciplinary Working Group Movement Disorders wants to provide a brief and practical new definition of spasticity-for the first time-based on its various forms of muscle hyperactivity as described in the current movement disorders terminology. We propose the following new definition system: Spasticity describes involuntary muscle hyperactivity in the presence of central paresis. The involuntary muscle hyperactivity can consist of various forms of muscle hyperactivity: spasticity sensu strictu describes involuntary muscle hyperactivity triggered by rapid passive joint movements, rigidity involuntary muscle hyperactivity triggered by slow passive joint movements, dystonia spontaneous involuntary muscle hyperactivity and spasms complex involuntary movements usually triggered by sensory or acoustic stimuli. Spasticity can be described by a documentation system grouped along clinical picture (axis 1), aetiology (axis 2), localisation (axis 3) and additional central nervous system deficits (axis 4). Our new definition allows distinction of spasticity components accessible to BT therapy and those inaccessible. The documentation sheet presented provides essential information for planning of BT therapy.

X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.

The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of "status dystonicus," challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.