Cid Czarina Diesta

Background and Objectives: X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative movement disorder caused by a retrotransposon insertion with a polymorphic hexanucleotide repeat expansion in the TAF1 gene. While the disease predominantly affects males, female carriers may exhibit a variable phenotypic expression. Neurobiological alterations in asymptomatic female mutation carriers (fMC) remain largely unexplored. We aimed to investigate whether fMC exhibit neurodegenerative changes despite the absence of overt clinical manifestations and to assess their clinical, genetic, and longitudinal correlates using multimodal MRI. Methods: In this cross-sectional and longitudinal multimodal study, 103 female relatives of XDP patients underwent clinical, genetic, and MRI assessments. Forty-two were identified as fMC and 61 as healthy controls (HC). Structural T1-weighted MRI was analyzed using voxel-based morphometry and subcortical volumetry, while susceptibility-weighted imaging assessed iron deposition. Clinical evaluation included standardized motor and cognitive testing. Longitudinal follow-up MRI was available for a subset of participants (20 fMC, 13 HC). Results: fMC exhibited significant striatal atrophy compared to HC, with volume reductions in the caudate (-19.4%), putamen (-18.6%), and pallidum (-28.6%) (all p<0.001), despite the absence of overt movement disorders or cognitive deficits, accompanied by relative cerebellar hypertrophy. In fMC striatal volumes decreased with increasing age (putamen: rho=−0.382, p=0.012; caudate: rho=−0.631, p<0.001) and virtual time from genetically determined estimated age at onset (putamen: rho=−0.406, p=0.008; caudate: rho=−0.660, p<0.001). Susceptibility-weighted imaging revealed increased iron deposition in the caudate in fMC, which increased with greater local atrophy (rho=0.718, p<0.001). No significant longitudinal progression was detected over follow-up intervals of up to 25.5 months. Discussion: Asymptomatic female carriers of the XDP-associated TAF1 variant exhibit significant striatal neurodegeneration and iron accumulation, indicating a dominant-negative effect despite X-linked inheritance. Future longitudinal studies should focus on non-motor features and integrate genetic, imaging, and clinical markers to improve risk stratification and identify the subset of female carriers most likely to benefit from future disease-modifying therapies.

Background & Objectives: The objective of this study was to determine the prevalence and characteristics of movement disorders in adult patients diagnosed with various types of metabolic encephalopathies in the Philippines. Methods: This is a descriptive cross-sectional study based on a 7-year chart review of admitted adult patients diagnosed with any of the fifteen different types of metabolic encephalopathy who experienced movement disorders during their hospital stay. Movement disorders were characterized based on phenomenology, onset, and distribution. Results: Out of 9,773 neurologic referrals, 2,055 patients (17%) were diagnosed with metabolic encephalopathy, mainly the hypoxic-ischemic type. Only 4% (76) exhibited involuntary movements, primarily linked to hypoxic-ischemic encephalopathy. Three movement disorders were reported: myoclonus (64), tremor (10), and parkinsonism (2). The 6th decade was the most common age for these disorders, predominantly in males. Most cases appeared acutely within 7 days after onset of encephalopathy and were mostly diffuse and multifocal. Conclusion: The findings highlight myoclonus as the predominant movement disorder in metabolic encephalopathy, particularly in hypoxic-ischemic and uremic types.

Drug-induced parkinsonism (DIP) is the second most common cause of parkinsonism, primarily resulting from medications that block dopamine D2 receptors or reduce dopamine in the basal ganglia. While antipsychotics are most frequently linked to DIP, cases related to other agents like amiodarone are rare. We describe a 79-year-old Filipino woman with sick sinus syndrome who developed parkinsonian symptoms after two months of amiodarone therapy. A high Nanjaro score, lack of response to levodopa, and dramatic improvement following discontinuation of amiodarone all aided the diagnosis of DIP. Supporting features include acute-subacute onset, timing of symptom development and absence of non-motor signs typical of PD. In conclusion, although rare, amiodarone can be associated with parkinsonism, highlighting the importance of clinical suspicion and vigilance, as the motor features of DIP can closely mimic those of PD.

Parasomnias are sleep disorders characterized by unusual and often distressing behaviors or experiences that occur during sleep or the transition between wakefulness and sleep. These disorders can arise in both non-rapid eye movement (NREM) and rapid eye movement (REM) sleep stages. REM sleep behavior disorder (RBD) is the most common and most studied parasomnia in movement disorders, especially among synucleinopathies. Numerous researches on RBD have established its clinical significance. Other parasomnias are less frequently reported in movement disorders, making it difficult to draw firm conclusions about their coexistence. Additionally, exploding head syndrome has not yet been documented in any movement disorders. This review summarizes current research on parasomnias, their association with movement disorders, and emphasizes the importance of increased awareness to improve diagnosis, management, and patient outcomes.

Background & Objectives: Hemifacial spasm (HFS) is a chronic disease characterized by unilateral tonic and clonic contractions of the facial muscles innervated by the facial nerve. The persistent attacks can significantly impact patients’ daily lives. The most efficacious therapy has been reported to be botulinum toxin (BTX). This study aims to investigate the factors that affect the short-term prognosis of HFS patients treated with BTX type A therapy, as well as to determine the clinic-demographic profile of such patients. Methods: This is a retrospective cohort study of patients with HFS who were treated with BTX at the Movement Disorders Clinic of Makati Medical Center (MMC). The HFS Score was used to assess the severity and frequency of the eye and cheek spasms, and the degree of suffering in health-related quality of life (HRQOL) parameters. Results: Sixty-four participants were included in the study. The patients’ characteristics were the following: mean age of 50.18 years; female predominance; most without comorbidities; mean disease duration of 7.83 years; eye as the most common location of initial spasm (96.88%); disease progression of 22.85 months; majority were previously treated with BTX (79.69%); and mean interval of 10.96 months from last BTX session. Regression analysis revealed that there were factors which influenced the short-term prognosis after treatment: (1) history of prior BTX therapy was associated with better clinical parameters, while (1) history of prior BTX therapy, (2) disease duration, and (3) location of initial spasm were associated with improvement of specific HRQOL parameters. Conclusion: BTX therapy has been established as efficacious in improving the clinical, functional and psychosocial aspects of HFS patients. The factors which influenced the botulinum response were different compared to other papers, highlighting potential differences in predictor variables across populations.

Background: X-linked dystonia parkinsonism (XDP, DYT3), a disease endemic to Panay Island in the Philippines, is a progressive adult-onset sex-linked neurodegenerative movement disorder with features of both dystonia and parkinsonism. Medical treatment and botulinum toxin injection (BTX) are of limited benefit. Deep brain stimulation (DBS) of the bilateral globus pallidus internus (GPi) is effective but is expensive and requires specialized equipment, training and after care. Posteroventral pallidotomy (PVP) is an older known ablative procedure which has successfully treated cervical and generalized dystonia, but has not been previously used for XDP. Case presentation: Two male adults with genetically-confirmed XDP, presented with progressive and severely disabling dystonias. The mean preoperative Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) was 80.5. Both XDP patients underwent a unilateral posteroventral pallidotomy. In the first case, there was a 38.46% decrease in BFMDRS score at 2 weeks sustained to 41.66% decrease (compared to pre-op BFMDRS at 4 years post-surgery). In the second case, there was a 33.73% decrease in BFMDRS at 2 months post-op, and a decrease of 86.74% in BFMDRS score at 3 years post-surgery. Conclusion: While not as effective as bilateral pallidal DBS, the benefits of a unilateral PVP are still substantial and sustained while also being less costly and resource expensive.

Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.

Nongenetic movement disorders are common throughout the world. The movement disorders encountered may vary depending on the prevalence of certain disorders across various geographical regions. In this paper, we review historical and more common nongenetic movement disorders in Asia. The underlying causes of these movement disorders are diverse and include, among others, nutritional deficiencies, toxic and metabolic causes, and cultural Latah syndrome, contributed by geographical, economic, and cultural differences across Asia. The industrial revolution in Japan and Korea has led to diseases related to environmental toxin poisoning, such as Minamata disease and β-fluoroethyl acetate-associated cerebellar degeneration, respectively, while religious dietary restriction in the Indian subcontinent has led to infantile tremor syndrome related to vitamin B12 deficiency. In this review, we identify the salient features and key contributing factors in the development of these disorders.