Journal of Movement Disorders

Raymond L. Rosales

2 Articles

X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics: Raymond L. Rosales; J Mov Disord. 2010;3(2):32-38.; DOI: https://doi.org/10.14802/jmd.10009

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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.

Citations

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Sungjin A. Song, Criscely L. Go, Patrick B. Acuna, Jan Kristopher Palentinos De Guzman, Nutan Sharma, Phillip C. Song
Journal of Voice.2023; 37(1): 134. CrossRef
X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment
Hok Leong Chin, Chia-Yi Lin, Oscar Hou-In Chou
Acta Neurologica Belgica.2023; 123(1): 45. CrossRef
Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism
Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Björn‐Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Chr
Annals of Neurology.2023;[Epub] 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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Prodromal X‐Linked Dystonia‐Parkinsonism is Characterized by a Subclinical Motor Phenotype
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A Community-based study on the prevalence and predisposing factors of Parkinson’s disease in Barangay Mangilag Sur, Quezon Province, Philippines
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X-linked dystonia Parkinsonism: crossing a new threshold
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A Cross-Cultural Validation of the Filipino and Hiligaynon Versions of the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the X-Linked Dystonia-Parkinsonism– MDSP Rating Scale
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Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism
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Anne J. Blood, Jeff L. Waugh, Thomas F. Münte, Marcus Heldmann, Aloysius Domingo, Christine Klein, Hans C. Breiter, Lillian V. Lee, Raymond L. Rosales, Norbert Brüggemann
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Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients
P. Capetian, N. Stanslowsky, E. Bernhardi, K. Grütz, A. Domingo, N. Brüggemann, M. Naujock, P. Seibler, C. Klein, F. Wegner
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Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration
Andreas Sprenger, Henrike Hanssen, Imke Hagedorn, Jannik Prasuhn, Raymond L. Rosales, Roland Dominic G. Jamora, Cid C. Diesta, Aloysius Domingo, Christine Klein, Norbert Brüggemann, Christoph Helmchen
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Validation of a screening questionnaire for X‐linked dystonia parkinsonism: The first phase of the population‐based prevalence study of X‐linked dystonia parkinsonism in Panay
Jose Danilo B Diestro, Paul Matthew D Pasco, Lillian V Lee
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Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism
Paul Matthew D. Pasco, Roland Dominic G. Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Arlene R. Ng, Rosalia A. Teleg, Criscely L. Go, Lillian Lee, Hubert H. Fernandez
npj Parkinson's Disease.2017;[Epub] CrossRef
Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)
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Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism
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Introduction
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The Occurrence of Fatigue in Independent and Clinically Stable Filipino Patients with Idiopathic Parkinson’s Disease: Carter S. Rabo, Raymond L. Rosales, Ma. Lourdes P. Corrales; J Mov Disord. 2009;2(1):18-21.; DOI: https://doi.org/10.14802/jmd.09005

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Abstract PDF

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.

Citations

Citations to this article as recorded by

A Community-based study on the prevalence and predisposing factors of Parkinson’s disease in Barangay Mangilag Sur, Quezon Province, Philippines
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
Tai Ngoc Tran, Uyen Ngoc Le Ha, Tuan Manh Nguyen, Thuan Duc Nguyen, Khang Ngoc Chung Vo, Thuong Huyen Dang, Paula Mai Phuong Trinh, Daniel Truong
Clinical Parkinsonism & Related Disorders.2021; 5: 100118. CrossRef
Neural and dopaminergic correlates of fatigue in Parkinson’s disease
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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