- X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics
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Raymond L. Rosales
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J Mov Disord. 2010;3(2):32-38.
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DOI: https://doi.org/10.14802/jmd.10009
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46,370
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Abstract
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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.
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Citations
Citations to this article as recorded by 
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Katerina Menšíková, John C. Steele, Raymond Rosales, Carlo Colosimo, Peter Spencer, Annie Lannuzel, Yoshikazu Ugawa, Ryogen Sasaki, Santiago Giménez-Roldán, Radoslav Matej, Lucie Tuckova, Dominik Hrabos, Kristyna Kolarikova, Radek Vodicka, Radek Vrtel, Mi Nature Reviews Neurology.2023; 19(10): 599. CrossRef - Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing
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- The Occurrence of Fatigue in Independent and Clinically Stable Filipino Patients with Idiopathic Parkinson’s Disease
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Carter S. Rabo, Raymond L. Rosales, Ma. Lourdes P. Corrales
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J Mov Disord. 2009;2(1):18-21.
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DOI: https://doi.org/10.14802/jmd.09005
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19,755
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66
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8
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Abstract
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Background:
Fatigue is a multidimensional problem affecting patients suffering from Parkinson’s disease (PD). It is ranked as one of the most bothersome symptom of patients with Parkinson’s disease. The study primarily aims to determine the presence of fatigue among clinically stable and independent Filipino patients suffering from idiopathic PD.
Methods:
This study is a prospective cross-sectional study. Recruited patients and control group were all Filipinos. Only independent patients with idiopathic, stable and non-fluctuating PD were included in the study. Those eligible underwent a multitude of screening tests to rule out presence of dementia (Mini Mental Status Examination, MMSE), depression (Montgomery-Åsberg Depression Rating Scale, MADRS), anxiety (Hamilton Anxiety Scale, HAM-A) and sleep disturbance. Disease severity was assessed using the Unified Parkinson’s Disease Rating Scale (UPDRS) and fatigue severity using both the Multicomponent Fatigue Index (MFI) and Fatigue Severity Inventory (FSI).
Results:
Twenty-eight patients underwent the study. The mean Hoehn and Yahr staging was 1.79. Patients with PD scored higher on both FSI and MFI (individual dimension scores and total score) as compared to the normal controls.
Conclusions:
The outcome of the study confirmed the presence of fatigue (general, physical, mental), even in clinically stable and independent patients suffering from idiopathic PD, when compared with age-matched healthy controls.
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Citations
Citations to this article as recorded by 
- Filipinos and Parkinson's disease: A scoping review of the literature
Emma Krening, Alfand Marl F. Dy Closas, Jeryl Ritzi T. Yu, Todd B. Seto, Lauren Terpak, Michiko K. Bruno Parkinsonism & Related Disorders.2025; : 107271. CrossRef - The Impact of Fatigue on Sleep and Other Non-Motor Symptoms in Parkinson’s Disease
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Raymond L. Rosales, Mary Camille E. Rosales, Danica Jane S.J. Robles, Ron Christian Neil T. Rodriguez, Nadia Beatrice S. Romana, Joseph Mariuz B. Rosales, Gerardo B. Salazar, Richelle Ann S. Santiano Clinical Parkinsonism & Related Disorders.2022; 7: 100169. CrossRef - The effect of Non-Motor symptoms on Health-Related quality of life in patients with young onset Parkinson’s Disease: A single center Vietnamese Cross-Sectional study
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Suk Yun Kang, Mirim Bang, Jing Yong Hong, Jungsu Oh, Jae Seung Kim, You Mie Han, Suk Ki Chang, Seun Ah Lee, Uicheul Yoon, Na-Young Shin Journal of Neural Transmission.2020; 127(3): 301. CrossRef - Prevalence and Predisposing Factors of Parkinson Disease: A Community-Based Study In Barangay Mangilag Sur, Candelaria, Quezon: A Research Protocol
Danica Jane S.J Robles, Ron Christian Neil T Rodriguez, Nadia Beatrice S Romana, Joseph Mariuz B Rosales, Mary Camille E Rosales, Gerardo B Salazar, Raymond L Rosales Journal of Medicine, University of Santo Tomas.2017; 1(1): 109. CrossRef
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