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1.
Artículo en Inglés | MEDLINE | ID: mdl-38747986

RESUMEN

Parkinson's disease (PD) progresses with motor fluctuations emerging several years after treatment initiation. Initially managed with oral medications, these fluctuations may later necessitate device-aided therapy (DATs). Globally, various DATs options are available, including continuous subcutaneous apomorphine infusion, deep brain stimulation, levodopa-carbidopa intestinal gel, levodopa-entacapone-carbidopa intestinal gel, and subcutaneous foslevodopa/foscarbidopa infusion, each with its complexities. Hence, matching complex patients with suitable therapy is critical. This review offers practical insights for physicians managing complex PD cases. Balancing evidence and experience is vital to select the most suitable DATs, considering factors like disease stage and patient preferences. Comparative analysis of DATs benefits and risks provides essential insights for clinicians and patients. Treatment sequences vary based on availability, patient needs, and disease progression. Less invasive options like apomorphine are often preferred initially, followed by other DATs if needed. Patient selection requires comprehensive evaluations, including motor function and cognitive status. Follow-up care involves symptom monitoring and adjusting medications. Customized treatment plans are essential for optimizing PD management with DATs.

2.
J Neural Transm (Vienna) ; 130(11): 1451-1462, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37603058

RESUMEN

Emerging studies suggest a correlation between elevated plasma homocysteine (hcy) levels and the risk of atherosclerosis, vascular disorders, and neurodegenerative diseases, including Parkinson's disease (PD). This narrative review delves into the intricate relationships between Hcy, vitamin B metabolites, dopamine-substituting compounds, and various symptoms of PD. Patients undergoing a long-term L-dopa/dopa-decarboxylase inhibitor (DDI) regimen, especially without a concurrent catechol-O-methyl transferase (COMT) inhibitor or methyl group-donating vitamin supplementation, such as vitamins B6 and B12, exhibit an elevation in Hcy and a decline in vitamin B metabolites. These altered concentrations appear to be associated with heightened risks of developing non-motor symptoms, including peripheral neuropathy and cognitive disturbances. The review underscores the impact of levodopa metabolism via COMT on homocysteine levels. In light of these findings, we advocate for the supplementation of methyl group-donating vitamins, notably B6 and B12, in patients undergoing a high-dose L-dopa/DDI regimen, particularly those treated with L-dopa/carbidopa intestinal gel (LCIG) infusion.


Asunto(s)
Levodopa , Enfermedad de Parkinson , Humanos , Levodopa/efectos adversos , Enfermedad de Parkinson/complicaciones , Antiparkinsonianos/efectos adversos , Dopamina , Catecol O-Metiltransferasa , Homocisteína/uso terapéutico , Vitaminas/uso terapéutico , Vitamina B 12/uso terapéutico
3.
J Neural Transm (Vienna) ; 130(11): 1359-1377, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37500937

RESUMEN

This article provides an overview of the various screening and selection tools which have been developed over the past 25 years to identify patients with Parkinson's disease (PD) possibly eligible for device-aided therapies (DATs). For the available screening tools, we describe the target therapies (subtypes of DAT), development methods, validation data, and their use in clinical practice. In addition, the historical background and potential utility of these screening tools are discussed. The challenges in developing and validating these tools are also addressed, taking into account the differences in population, the local health care organization, and resource availability.


Asunto(s)
Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/tratamiento farmacológico , Antiparkinsonianos/uso terapéutico , Carbidopa , Levodopa/uso terapéutico , Combinación de Medicamentos , Geles/uso terapéutico
4.
Mov Disord ; 36(3): 672-680, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33165964

RESUMEN

BACKGROUND: No clinical trials have been specifically designed to compare medical treatments after surgery in Parkinson's disease (PD). OBJECTIVE: Study's objective was to compare the efficacy and safety of levodopa versus dopamine agonist monotherapy after deep brain stimulation (DBS) in PD. METHODS: Thirty-five surgical candidates were randomly assigned to receive postoperative monotherapy with either levodopa or dopamine agonist in a randomized, single-blind study. All patients were reevaluated in short- (3 months), mid- (6 months), and long-term (2.5 years) follow-up after surgery. The primary outcome measure was the change in the Non-Motor Symptoms Scale (NMSS) 3 months after surgery. Secondary outcome measures were the percentage of patients maintaining monotherapy, change in motor symptoms, and specific non-motor symptoms (NMS). Analysis was performed primarily in the intention-to-treat population. RESULTS: Randomization did not significantly affect the primary outcome (difference in NMSS between treatment groups was 4.88 [95% confidence interval: -11.78-21.53, P = 0.566]). In short- and mid-term follow-up, monotherapy was safe and feasible in more than half of patients (60% in short- and 51.5% in mid-term follow-up), but it was more often possible for patients on levodopa. The ability to maintain dopamine agonist monotherapy was related to optimal contact location. In the long term, levodopa monotherapy was feasible only in a minority of patients (34.2%), whereas dopamine agonist monotherapy was not tolerated due to worsening of motor conditions or occurrence of impulse control disorders. CONCLUSIONS: This trial provides evidence for simplifying pharmacological treatment after functional neurosurgery for PD. The reduction in dopamine receptor agonists should be attempted while monitoring for occurrence of NMSs, such as apathy and sleep disturbances. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Estimulación Encefálica Profunda , Enfermedad de Parkinson , Antiparkinsonianos/uso terapéutico , Agonistas de Dopamina/uso terapéutico , Humanos , Levodopa/uso terapéutico , Enfermedad de Parkinson/tratamiento farmacológico , Método Simple Ciego , Resultado del Tratamiento
5.
Br J Neurosurg ; : 1-8, 2021 Dec 23.
Artículo en Inglés | MEDLINE | ID: mdl-34939521

RESUMEN

PURPOSE: Due to brain shift during bilateral deep brain stimulation (DBS) surgery, placement of the second electrode may be subjected to more error than that of the first electrode. The authors aimed to investigate the accuracy of second electrode placement in this setting. MATERIALS AND METHODS: Fifty-five patients with Parkinson's disease who underwent bilateral DBS surgery (110 electrodes) were retrospectively evaluated. The targets were subthalamic nucleus (STN) and globus pallidus interna (GPi) in 40 and 15 cases, respectively. Preoperative planning and postoperative electrode images were co-registered to compare the error margin between the two sides. RESULTS: There is a statistically significant difference in the directional axis error along the y axis only when comparing each laterality (posterior 0.04 ± 1.21 mm vs anterior 0.41 ± 1.07 mm, p = 0.006). There is no significant difference of other error parameters, final track location, and number of microelectrode recording passes between the two sides. In a subgroup analysis, there is a significant difference in directional axis error along the y axis only in the STN subgroup (posterior 0.40 ± 1.05 mm vs anterior 0.18 ± 1.04 mm, p = 0.003). CONCLUSION: Although a statistically significant difference in directional axis error along the y axis was found between first and second electrode placements in the STN group but not in the GPi group, its magnitude is well below the clinically significant threshold.

6.
BMC Med Educ ; 20(1): 239, 2020 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-32727429

RESUMEN

BACKGROUND: Lao People's Democratic Republic (Lao PDR) has only nine neurologists for seven million people; none have formal training in Parkinson's disease (PD). Medical specialists require sufficient PD knowledge to provide high-quality care. METHODS: This study outlines a Centre-to-Centre programme for developing PD expertise in underserved regions through a tailored two-year educational enterprise between an established movement disorder mentor centre at Chulalongkorn University in Thailand and mentee centres in Lao PDR. Background knowledge of 80 Laotian physicians was assessed using a validated PD knowledge questionnaire containing 26 questions divided into 3 sections (diagnosis, therapeutic options, disease course) before and immediately after one-day kick-start training. Responses were compared across physicians' demographic groups. RESULTS: Of 80 respondents, 50 (62.5%) were board-certified physicians, of which 27 (54%) specialised in internal medicine. Apparent knowledge gaps were shown by a 51.2% correct response rate for total score, 52.8% for diagnosis, 50.6% for therapeutic options, and 48.2% for disease course. No significant differences in total score or any domain sub-scores between neurologists and other specialties were found. Many did not know which non-motor symptoms could occur as prodromal symptoms or late in course of PD. Incorrect responses mainly reflected a lack of knowledge of the impact of medication on disease. Total and domain sub-scores significantly improved after the course (p < 0.05, each). The size of difference of the means was significant for the total score (d = 0.82), therapeutic option (d = 0.56), and disease course (d = 0.68) sub-scores. CONCLUSIONS: Significant improvement of PD knowledge amongst Laotian physicians is demonstrated after a training course, focusing on practical management of PD. Our findings highlight the importance of continued medical education, especially PD-specific training.


Asunto(s)
Enfermedad de Parkinson , Médicos , Humanos , Laos/epidemiología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/terapia , Encuestas y Cuestionarios , Tailandia
7.
Eur Neurol ; 81(3-4): 128-138, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31212281

RESUMEN

INTRODUCTION: Driving competency is important to evaluate among individuals with Parkinson's disease (PD). Driving in natural situations is the preferred assessment method; thus, we used a naturalistic driving environment to identify driving competency among individuals with PD in comparison to healthy age-matched controls. METHODS: Based on a power analysis, we recruited 20 participants (10 with PD and 10 healthy age-matched controls). Each participant completed 3 tasks while driving the ChulaPD car, a 4-door sedan installed with computerized monitoring systems. The tasks were forward and backward vehicle movement, reversing into a parking space, and parking parallel to a sidewalk. Trip start and end times, vehicle speed, and acceleration and deceleration times were logged using steering wheel motion, location parking sensors, and dashboard cameras and compared between groups. RESULTS: Age, gender, possession of a driver's license, present driving conditions, Thai Mini-Mental State Examination score, and driving experience did not significantly differ between groups. However, the PD group took longer to complete the driving tests (p = 0.002), had slower vehicle speeds (p = 0.002), longer brake times (p = 0.007), and decreased brake pressure ability (p = 0.009). Under normalized conditions, the ratio of failed driver's license tests was also higher among the PD group than in the control group (70 vs. 10%, p = 0.006). CONCLUSIONS: Individuals with PD had less-than-adequate driving ability based on our naturalistic setting. Our assessment method may be useful in other populations with chronic illnesses or for older adults. We discuss how naturalistic assessments could become the standard for evaluating driving ability in Thailand and elsewhere.


Asunto(s)
Conducción de Automóvil , Automóviles , Evaluación de la Discapacidad , Enfermedad de Parkinson , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico
8.
Parkinsonism Relat Disord ; 118: 105950, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38081119

RESUMEN

INTRODUCTION: Botulinum toxin type A (BoNT/A) injections are the first-line treatment for primary hemifacial spasms (HFS), but require frequent painful injections. Although micro-hypodermic needles are commonly used for aesthetic BoNT/A injections to lessen pain and bruising, their benefits in HFS remain unclear. OBJECTIVE: To compare side effects of BoNT/A injection, specifically pain and bruising, between primary HFS patients who received injections using micro-hypodermic needles (34-G) and those using standard needles (30-G). METHODS: This cross-over, double-blind, randomised controlled trial involved HFS patients who received BoNT/A injections using either a 34-G or 30-G needle at two visits 12 weeks apart. Primary outcomes, pain and bruising were assessed immediately after injection using the Visual Analogue Scale (VAS) and Short-form McGill Pain Questionnaire (Thai version, SF-MPQ). Bruise assessment was also conducted one week after each injection. Secondary outcomes involved comparing efficacy of BoNT/A between the two types of needles and assessing other complications beyond pain and bruising. RESULTS: 65 HFS patients (47 women and 18 men; mean age 59.46 ± 11.48 years; mean disease duration 5.86 ± 4.16 years) were included in the study. Patients who received 34-G needle injections reported significantly reduced pain, as indicated by VAS, total SF-MPQ scores, and bruise scores, compared to those who received 30-G needle injections (p < 0.001, each). There were no differences in efficacy or occurrence of other complications associated with BoNT/A between the two needle types. CONCLUSION: In HFS patients, BoNT/A injections using micro-hypodermic needles resulted in reduced pain and bruising, compared to standard needles, while maintaining similar BoNT/A benefits.


Asunto(s)
Toxinas Botulínicas Tipo A , Contusiones , Espasmo Hemifacial , Fármacos Neuromusculares , Masculino , Humanos , Femenino , Persona de Mediana Edad , Anciano , Espasmo Hemifacial/tratamiento farmacológico , Espasmo Hemifacial/complicaciones , Agujas/efectos adversos , Dolor/etiología , Contusiones/inducido químicamente , Contusiones/complicaciones , Contusiones/tratamiento farmacológico , Resultado del Tratamiento
9.
Front Neurol ; 15: 1327448, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38348165

RESUMEN

Background: ON-freezing of gait (ON-FOG) in Parkinson's disease (PD), often resistant to medication, is linked to sensory deficits and proprioceptive impairment, and results in falls and reduced life quality. While visual cues from a laser cane (LC), which rapidly accesses the motor cortex, are commonly used to compensate for proprioceptive impairment, increased visual reliance may be affected by disease progression. Emerging evidence suggests that modulation of peripheral sensory processing may alleviate ON-FOG, and therapeutic Thai acupressure (TTA) may be a solution. This study aims to evaluate the effect of TTA in alleviating ON-FOG and compare its effectiveness to LC in patients with PD. Methods: This open-label, non-inferiority trial randomized 90 PD patients with ON-FOG equally into three arms: TTA for plantar nerve stimulation for 96 s, LC for visual cueing, and sham control (SC). Stride length was the primary non-inferiority endpoint [non-inferiority margin: lower limit of 95% confidence interval (CI) above -10 cm in mean change difference in pre- and immediately post-intervention in TTA versus LC (one-sided)]. Secondary outcomes included FOG episodes, double support time, velocity, cadence, step length, timed up and go (TUG) test, and visual analog scale (VAS) score. Results: TTA showed non-inferiority to LC in stride length (mean = -0.7 cm; 95% CI: -6.55; 5.15) (one-sided). The improvements with TTA and LC versus SC were comparable between (mean = 13.11 cm; 95% CI: 7.26; 18.96) and (mean = 13.8 cm; 95% CI: 7.96; 19.65) (one-sided). Secondary outcomes favored TTA and LC over SC with improved FOG, velocity, step length, and VAS scores, while only TTA resulted in improved double support time, cadence, and TUG test results. No complications occurred. Conclusion: The efficacy of TTA, which improves stride length, is non-inferior to that of LC and consequently alleviates FOG comparable to LC. TTA might enhance proprioceptive function and reduce visual dependence. Therefore, TTA, characterized by its non-invasive, simple, and safe techniques, is a potential non-pharmacological alternative for ON-FOG treatment and might enhance overall quality of life. However, further research into the mechanism, efficacy, and utilization of TTA is essential. Clinical trial registration: https://www.thaiclinicaltrials.org/show/TCTR20200317001, identifier TCTR20200317001.

10.
Clin Park Relat Disord ; 10: 100254, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38778886

RESUMEN

Introduction: Freezing of gait (FOG) involves dysfunction of the motor and sensory systems. Peripheral sensory stimuli, including Thai acupressure, can improve proprioceptive function and decrease FOG episodes. Here, we sought to determine the efficacy of acupressure as a self-treatment to alleviate FOG in patients with Parkinson's disease (PD). Methods: We conducted an open-label, controlled trial of 60 PD patients with FOG while medicated, randomised into two groups: an active-treatment group using silicone pads to apply pressure to plantar acupoints on the head of the big toe and the base of the first metatarsal bone on each foot for 6 s using patient body weight while seated, repeated four times for each acupoint bilaterally, and a sham-treatment group using a similar protocol without the silicone pads. The primary outcome was stride length. Secondary outcomes included FOG episodes, FOG duration, percent duration of FOG to total gait time (%FOG), and gait parameters. A baseline-adjusted analysis of covariance was used to compare outcomes between the two groups. Results: Compared with the sham treatment, the active treatment increased stride length, gait velocity, and cadence (all p < 0.001), and decreased FOG episodes and duration (both p < 0.001), %FOG (p = 0.011), and double-support time (p < 0.001). No adverse effects were noted. Conclusions: Acupressure using silicone pads to stimulate plantar acupoints for self-treatment is a noninvasive, simple, safe way to improve gait and alleviate FOG in patients with PD. Clinical Trial Registration: We registered the study prospectively in the Thai Clinical Trial Registry No. TCTR20200317001.

11.
Front Neurol ; 15: 1379459, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38645746

RESUMEN

Introduction: Apomorphine, a potent dopamine agonist, is a therapeutic option for patients with Parkinson's disease and motor fluctuations. However, the adoption of and adherence to this therapy have been limited by the need for complex delivery devices and specialized care as well as resource consumption, posing challenges for new physicians. Thailand is a unique example of a developing nation that has successfully implemented and continued the use of this therapy by employing cooperative technology that has dramatically enhanced apomorphine delivery services. Methods: Establishing apomorphine delivery services requires significant resources and step-by-step solutions. We began our services by implementing various strategies in three chronological stages: the initial stage (2013-2015), intermediate stage (2016-2019), and current stage (2020-present), each presenting unique challenges. Together, we also implemented a proposed set of five mottos to strengthen our apomorphine delivery service. Using additive technology, we developed a patient registry platform that combined electronic data acquisition, video and remote monitoring using wearable sensors, and in-house mobile applications to support our service. Results: At the initial stage, we assembled a team to enhance the efficacy and confirm the safety of apomorphine treatment in our hospital. At the intermediate stage, we expanded our apomorphine delivery services beyond just the patients at our hospital. We supported other hospitals in Thailand in setting up their own apomorphine services by educating both physicians and nurses regarding apomorphine therapy. With this educational undertaking, increased apomorphine-related knowledge among medical professionals, and a greater number of hospitals providing apomorphine services, an increasing number of patients were administered apomorphine in subsequent years. Currently, we are providing effective apomorphine delivery to improve patient outcomes and are seamlessly integrating technology into clinical practice. Incorporating integrative technologies in our apomorphine delivery program yielded positive results in data collection and support throughout patient care, in tracking patients' statuses, in the long-term use of this treatment, and in increasing medication adherence rates. Conclusion: This perspective paper describes how technology can help provide supportive healthcare services in resource-constrained environments, such as in Thailand, offering a step-by-step approach to overcoming several limitations. The valuable insights from our 10-year journey in successfully integrating technology into apomorphine delivery services can benefit new physicians seeking to replicate our success.

12.
Front Neurol ; 15: 1356761, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38419696

RESUMEN

Tardive dyskinesia (TD) is a movement disorder that can arise as a side effect of treatment with dopamine receptor-blocking agents (DRBAs), including antipsychotic drugs (APDs) used to manage psychotic illnesses. Second-generation APDs (SGAs) are often preferred to first-generation drugs due to their lower propensity to cause TD, however many SGAs-treated patients still develop the condition. Although TD is a global health concern, evidence regarding the occurrence of TD and how it is managed in Asian countries is currently limited. This article reports the results of a systematic review of the published literature on TD focusing on its prevalence, types of patients, knowledge of the condition, causative factors, and usual treatment pathways in clinical practice in Asian countries. Epidemiological data suggest that the prevalence of TD is increasing globally due to an overall rise in APD use, contributing factors being polypharmacy with multiple APDs, the use of higher than necessary doses, and off-label use for non-psychotic indications. Although exact prevalence figures for TD in Asian countries are difficult to define, there is a similar pattern of rising APD use which will result in increasing numbers of TD patients in this region. These issues need to be addressed and strategies developed to minimize TD risk and manage this disabling condition which impacts patients' quality of life and daily functioning. To date, both research into TD has been predominantly psychiatry focused and the perspectives from neurologists regarding the clinical management of this challenging condition are scarce. However, neurologists have an essential role in managing the movement disorders manifestations that characterize TD. Optimum management of TD, therefore, should ideally involve collaboration between psychiatrists and neurologists in joint care pathways, wherever practical. Collaborative pathways are proposed in this article, and the challenges that will need to be addressed in Asian countries to improve the care of people with TD are highlighted, with a focus on the neurologist's viewpoint and the implications for the management of TD globally.

13.
Asia Ocean J Nucl Med Biol ; 12(2): 86-107, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39050239

RESUMEN

Movement disorders are chronic neurological syndromes with both treatable and non-treatable causes. The top causes of movement disorders are Parkinson's disease and related disorders. Functional imaging investigations with Single Photon Emission Computed Tomography (SPECT) and Positron Emission Tomography (PET) images play vital roles in diagnosis and differential diagnosis to guide disease management. Since there have been new advanced imaging technologies and radiopharmaceuticals development, there is a need for up-to-date consensus guidelines. Thus, the Nuclear Medicine Society of Thailand, the Neurological Society of Thailand, and the Thai Medical Physicist Society collaborated to establish the guideline for Nuclear Medicine investigations in movement disorder for practical use in patient care. We have extensively reviewed the current practice guidelines from other related societies and good quality papers as well as our own experience in Nuclear Medicine practice in movement disorders. We also adjust for the most suitability for application in Thailand and other developing countries.

14.
Front Neurol ; 15: 1386608, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38803644

RESUMEN

The rising prevalence of Parkinson's disease (PD) globally presents a significant public health challenge for national healthcare systems, particularly in low-to-middle income countries, such as Thailand, which may have insufficient resources to meet these escalating healthcare needs. There are also many undiagnosed cases of early-stage PD, a period when therapeutic interventions would have the most value and least cost. The traditional "passive" approach, whereby clinicians wait for patients with symptomatic PD to seek treatment, is inadequate. Proactive, early identification of PD will allow timely therapeutic interventions, and digital health technologies can be scaled up in the identification and early diagnosis of cases. The Parkinson's disease risk survey (TCTR20231025005) aims to evaluate a digital population screening platform to identify undiagnosed PD cases in the Thai population. Recognizing the long prodromal phase of PD, the target demographic for screening is people aged ≥ 40 years, approximately 20 years before the usual emergence of motor symptoms. Thailand has a highly rated healthcare system with an established universal healthcare program for citizens, making it ideal for deploying a national screening program using digital technology. Designed by a multidisciplinary group of PD experts, the digital platform comprises a 20-item questionnaire about PD symptoms along with objective tests of eight digital markers: voice vowel, voice sentences, resting and postural tremor, alternate finger tapping, a "pinch-to-size" test, gait and balance, with performance recorded using a mobile application and smartphone's sensors. Machine learning tools use the collected data to identify subjects at risk of developing, or with early signs of, PD. This article describes the selection and validation of questionnaire items and digital markers, with results showing the chosen parameters and data analysis methods to be robust, reliable, and reproducible. This digital platform could serve as a model for similar screening strategies for other non-communicable diseases in Thailand.

15.
PLoS One ; 18(10): e0293516, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37906549

RESUMEN

BACKGROUND: With the benefit of using next-generation sequencing (NGS), our aim was to examine the prevalence of known monogenic causes in early-onset Parkinson's disease (EOPD) patients in Thailand. The association between clinical features, such as levodopa-induced dyskinesia (LID), and genotypes were also explored. METHOD: NGS studies were carried out for EOPD patients in the Tertiary-referral center for Parkinson's disease and movement disorders. EOPD patients who had LID symptoms were enrolled in this study (n = 47). We defined EOPD as a patient with onset of PD at or below 50 years of age. LID was defined as hyperkinetic movements including chorea, ballism, dystonia, myoclonus, or any combination of these movements resulting from levodopa therapy, which could be peak-dose, off-period, or diphasic dyskinesias. RESULTS: Pathogenic variants were identified in 17% (8/47) of the Thai EOPD patients, of which 10.6% (5/47) were heterozygous GBA variants (c.1448T>C in 3 patients and c.115+1G>A in 2 patients), 4.3% (2/47) homozygous PINK1 variants (c.1474C>T) and 2.1% (1/47) a PRKN mutation (homozygous deletion of exon 7). The LID onset was earlier in patients with GBA mutations compared to those without (34.8±23.4 vs 106.2±59.5 months after starting levodopa, respectively, p = 0.001). LID onset within the first 30 months of the disease was also found to be independently associated with the GBA mutation (odds ratio [95% confidence interval] = 25.00 [2.12-295.06], p = 0.011). CONCLUSION: Our study highlights the high prevalence of GBA pathogenic variants in Thai patients with EOPD and the independent association of these variants with the earlier onset of LID. This emphasizes the importance of genetic testing in this population.


Asunto(s)
Discinesias , Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/genética , Enfermedad de Parkinson/epidemiología , Levodopa/efectos adversos , Levodopa/genética , Glucosilceramidasa/genética , Glucosilceramidasa/uso terapéutico , Homocigoto , Tailandia , Eliminación de Secuencia , Mutación , Discinesias/etiología , Secuenciación de Nucleótidos de Alto Rendimiento , Edad de Inicio
16.
Mov Disord Clin Pract ; 10(6): 878-895, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37332644

RESUMEN

The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. Not only is the pace of discovery of novel disease-causing genes accelerating but also the phenotypic spectra associated with previously known genes are expanding. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders. Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann-Sträussler-Scheinker disease, PLA2G6-related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia. We also review common disorders seen worldwide with specific mutations or presentations that occur frequently in Asians.

17.
J Mov Disord ; 16(3): 248-260, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37291830

RESUMEN

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 ß-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.

18.
J Mov Disord ; 16(3): 231-247, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37309109

RESUMEN

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.

19.
J Neurol ; 270(5): 2409-2415, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36943516

RESUMEN

BACKGROUND: Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited. METHODS: Cases with new-onset COVID-19-associated movement disorders were identified by searching the literature. Authors were contacted for outcome data which were reviewed and analyzed. RESULTS: Movement disorders began 12.6 days on average after the initial onset of COVID-19. 92% of patients required hospital admission (mean duration 23 days). In a fraction of patients (6 of 27; 22%; 4 males/2 females, mean age 66.8 years) the movement disorder (ataxia, myoclonus, tremor, parkinsonism) was still present after a follow-up period of 7.5 ± 3 weeks. Severe COVID-19 in general and development of encephalopathy were risk factors, albeit not strong predictors, for the persistence. CONCLUSIONS: The prognosis of new-onset COVID-19-associated movement disorder appears to be generally good. The majority recovered without residual symptoms within several weeks or months. Permanent cases may be due to unmasking of a previous subclinical movement disorder or due to vascular/demyelinating damage. Given the relatively low response rate of one third only and the heterogeneity of mechanisms firm conclusions on the (long-term) outome cannot, however, be drawn.


Asunto(s)
COVID-19 , Trastornos del Movimiento , Masculino , Femenino , Humanos , Anciano , COVID-19/complicaciones , Estudios de Seguimiento , Trastornos del Movimiento/etiología , Factores de Riesgo , Temblor/complicaciones
20.
J Clin Med ; 11(4)2022 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-35207194

RESUMEN

Infections are a significant cause of movement disorders. The clinical manifestations of SARS-CoV-2 infection are variable, with up to one-third of patients developing neurologic complications, including movement disorders. This scoping review will lay out a comprehensive understanding of movement disorders induced by SARS-CoV-2 infection. We aim to investigate the epidemiology, clinical and paraclinical features, interventions, and diagnostic challenges in patients with different types of movement disorders in the context of SARS-CoV-2 infection. We will search three databases applying appropriate search terms. Inclusion and exclusion criteria are pre-defined; the data of eligible studies will be extracted in standardized forms. We will report the results following Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). We will present information for clinicians and other healthcare professionals, policymakers, and public health researchers. In addition, the results of the present review may assist in the development and confirmation of inclusion criteria and research questions for further systematic review or meta-analysis, with more precise, narrower questions.

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