Publications by authors named "Francisco Escamilla-Sevilla"

Introduction: In Parkinson's Disease (PD), despite available treatments focusing on symptom alleviation, the effectiveness of conventional therapies decreases over time. This study aims to enhance the identification of candidates for device-aided therapies (DAT) using artificial intelligence (AI), addressing the need for improved treatment selection in advanced PD stages.

Methods: This national, multicenter, cross-sectional, observational study involved 1086 PD patients across Spain.

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The ability of serum biomarkers to predict the prognosis and response to deep-brain stimulation (DBS) therapy in Parkinson's disease (PD) patients is promising. Here, we showed that NfL differed between healthy individuals and PD patients and that changes in NfL, GFAP, and BDNF occurred only transiently after DBS surgery. Therefore, subthalamic stimulation does not promote neurodegeneration, and these biomarkers do not serve as clinical improvement endpoints in PD DBS patients.

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Objective: Patients with essential tremor (ET) may experience cognitive-affective impairment. Deep brain stimulation (DBS) of different targets, such as the ventral intermediate nucleus (VIM) of the thalamus or the posterior subthalamic area (PSA), has been shown to be beneficial for refractory ET. However, there is little evidence regarding the possible neuropsychological effects of PSA-DBS on patients with ET, and there are few studies comparing it with VIM-DBS in this population.

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Background: Recently, a novel simple classification called MNCD, based on 4 axes (Motor; Non-motor; Cognition; Dependency) and 5 stages, has been proposed to classify Parkinson's disease (PD).

Objective: Our aim was to apply the MNCD classification in a cohort of PD patients for the first time and also to analyze the correlation with quality of life (QoL) and disease severity.

Methods: Data from the baseline visit of PD patients recruited from 35 centers in Spain from the COPPADIS cohort fromJanuary 2016 to November 2017 were used to apply the MNCD classification.

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Purpose: The aim of this study was to examine balance ability and occupational performance in patients with Parkinson's disease (PD) and on-medication-state freezing of gait (FOG).

Design: A cohort study with three groups was conducted.

Methods: Seven patients with PD and on-medication-state FOG with optimized pharmacological therapy; seven patients with PD matched by age, gender, length of time since diagnosis, and Hoehn and Yahr stage; and seven controls were included.

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Patients with Parkinson’s disease (PD) can improve some non-motor symptoms (NMS) after starting treatment with opicapone. The aim of this study was to analyze the effectiveness of opicapone on global NMS burden in PD. OPEN-PD (Opicapone Effectiveness on Non-motor symptoms in Parkinson’s Disease) is a prospective open-label single-arm study conducted in 5 centers from Spain.

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: Parkinson's disease (PD) is a clinically heterogeneous disorder in which the symptoms and prognosis can be very different among patients. We propose a new simple classification to identify key symptoms and staging in PD. : Sixteen movement disorders specialists from Spain participated in this project.

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Levodopa-carbidopa intestinal gel (LCIG) has shown to be efficacious in motor and non-motor symptoms (NMS). Nevertheless, studies with patient Quality of Life (QoL) as a primary endpoint are scarce. To assess the effect of LCIG on Advanced Parkinson's Disease (APD) patients QoL.

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Parkinson's disease (PD) is a chronic progressive and irreversible disease and the second most common neurodegenerative disease worldwide. In Spain, it affects around 120.000-150.

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Objective: We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature.

Methods: A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing.

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Article Synopsis
  • The study conducted in Spain aimed to explore genetic factors related to Parkinson's Disease (PD) through the largest genome-wide association study focusing on a single country with diverse genetic backgrounds.
  • Researchers analyzed data from 7,849 individuals to find specific genetic signals linked to PD risk and age at onset, discovering new associations particularly with the PARK2 gene and confirming others like SNCA and LRRK2.
  • The findings suggest that Spain's unique genetic diversity can enhance understanding of complex diseases like PD, providing valuable insights for future genetic research.
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Objectives: To analyse the association between aminosalicylate-treated inflammatory bowel disease (IBD) and Parkinson's disease (PD) at population level.

Design: Cross-sectional study.

Setting: The study was performed based on electronic drug prescription and dispensation records of the Andalusian Public Health System.

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The development of devices has increase interest in the use of ambulatory methods to detect sleep disorders more objectively than those permitted by subjective scales evaluating sleep quality, while subjects maintain their usual lifestyle. This study aims to validate an ambulatory circadian monitoring (ACM) device for the detection of sleep and wake states and apply it to the evaluation of sleep quality in patients with Parkinson disease (PD). A polysomnographic validation study was conducted on a group of patients with different sleep disorders in a preliminary phase, followed by a pilot study to apply this methodology to PD patients.

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Parkinson's disease (PD) is associated with several non-motor symptoms that may precede the diagnosis and constitute a major source of frailty in this population. The digital era in health care has open up new prospects to move forward from the qualitative and subjective scoring for PD with the use of new wearable biosensors that enable frequent quantitative, reliable, repeatable, and multidimensional measurements to be made with minimal discomfort and inconvenience for patients. A cross-sectional study was conducted to test a wrist-worn device combined with machine-learning processing to detect circadian rhythms of sleep, motor, and autonomic disruption, which can be suitable for the objective and non-invasive evaluation of PD patients.

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Parkinson's disease (PD) is the second most common neurodegenerative disease, whose prevalence is projected to be between 8.7 and 9.3 million by 2030.

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Article Synopsis
  • Researchers conducted a study on the genetics of Parkinson's disease (PD) in Southern Spain using a Genome-Wide Association Study with 240 PD patients and 192 controls.
  • They identified genetic variations linked to PD risk and age at onset, finding significant associations at various genetic loci and confirming the impact of a high genetic risk score on PD vulnerability.
  • The study also revealed runs of homozygosity in PD-related regions and confirmed the presence of known genetic variants associated with PD, contributing valuable insights into the genetic architecture of the disease in this population.
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To date, a large spectrum of genetic variants has been related to familial and sporadic Parkinson's disease (PD) in diverse populations worldwide. However, very little is known about the genetic landscape of PD in Southern Spain, despite its particular genetic landscape coming from multiple historical migrations. We included 134 PD patients in this study, of which 97 individuals were diagnosed with late-onset sporadic PD (LOPD), 28 with early-onset sporadic PD (EOPD), and 9 with familial PD (FPD).

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Background: A recent genome-wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in a British population. Hence, the authors proposed dysfunction of the ion channel NALCN (for sodium leak channel, nonselective) as a plausible cause of cervical dystonia. The objective of our study was to investigate the association of five single nucleotide polymorphisms (SNPs) previously reported with high signals as putative genetic risk factors for cervical dystonia in a British GWAS, including two located in the NALCN gene region.

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Background: A polymorphism in brain-derived neurotrophic factor (BDNF) (Val66Met) has been reported as a risk factor in primary dystonia. However, overall the results have been inconclusive. Our aim was to clarify the association of Val66Met with primary dystonia, and with the most prevalent clinical subtypes, cervical dystonia and blepharospasm.

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Hemiparkinsonism secondary to a vascular mesencephalic lesion is infrequent; these patients offer an exceptional opportunity to study neuropsychological alterations attributable to unilateral dopaminergic denervation, shedding light on the pathophysiology of cognitive disorders in early-stage idiopathic Parkinson's disease (PD). From the investigation of our case, we conclude that destruction of the right nigrostriatal pathway is accompanied by deficits in executive functioning and verbal/visual memory similar to those observed in many patients with early-stage idiopathic PD. The more complex neuropsychological dysfunction developed by other PD patients must therefore be related to the additional involvement of other brain structures.

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Background: Subthalamic nucleus deep brain stimulation (STN-DBS) improves motor function in selected patients with Parkinson's disease (PD) but can be associated with variable changes in cognitive functions.

Methods: We studied 21 patients selected for STN-DBS and compared 6-month clinical and neuropsychological outcomes between those who underwent surgery (n = 9) and those who voluntarily refused it (n = 12).

Results: Motor and quality of life outcomes were markedly superior in the STN-DBS group versus controls.

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