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While ChatGPT has recently become very popular, AI has a long history and philosophy. This paper intends to explore the promises and pitfalls of the Generative Pre-trained Transformer (GPT) AI and potentially future technologies by adopting a speculative methodology. Speculative future narratives with a specific focus on educational contexts are provided in an attempt to identify emerging themes and discuss their implications for education in the 21st century. Affordances of (using) AI in Education (AIEd) and possible adverse effects are identified and discussed which emerge from the narratives. It is argued that now is the best of times to define human vs AI contribution to education because AI can accomplish more and more educational activities that used to be the prerogative of human educators. Therefore, it is imperative to rethink the respective roles of technology and human educators in education with a future-oriented mindset.

Metacognition can be considered as knowledge about one's own cognitive activities and their regulation during learning processes (Flavell, 1979). Students are, then, involved in metacognitive mental activities when they think about what they have learned, how they have learned it, or how they can relate it to their personal experiences, among other things. Based on this, students who develop these skills should show more appropriate strategies to know what they need to find out or do while learning. Therefore, understanding and controlling these cognitive processes may be one of the most essential skills that teachers should encourage at all academic levels (Anderson, 2002). The Guided Learning Diary (GLD, Bort-Mir, 2016) was developed as a learning diary with several aims: (i) defining the general and specific objectives of the content to be taught, (ii) developing the students' metacognitive skills through strategic questions, and (iii) promoting the development of important competences such as self-criticism, autonomous learning, self-evaluation and capacity for improvement. The GLD also allows a self-evaluation process for teachers, thus facilitating the supervision and improvement both of the contents of the course and the didactic methodology. This tool was developed and applied within the Theatre in English subject at Universitat Jaume I, embedded in the third course of the English Studies Degree, and the students' results were significantly higher than those of previous years (Bort-Mir & Silvestre-López, 2017). The present research proposes a technological turn in the application of the GLD with the use of the open-source tool Penzu™. The creation of academic online diaries with this tool may improve students' motivation while promoting meaningful and self-regulated learning in Higher Education environments, thus helping students reach academic success. Penzu™ allows this investigation to widen the scope of the GLD to the general public.

This study looks at the effect that the compulsory COVID-19 lockdown restrictions introduced by the Spanish government had on the quality of life of teachers working in the Spanish education system, i.e. those teaching at early years, primary, secondary, tertiary vocational training and university education levels. Participants completed a questionnaire that included the 7-item Generalized Anxiety Disorder Scale (GAD-7) along with other questions relating to their wellbeing from the European Quality of Life Survey (EQLS). A total of 668 teachers responded to the questionnaire, which was generated using Microsoft Forms and distributed in an online format. The results confirm significant levels of abnormal anxiety during prolonged lockdown. We perform a multivariate analysis that shows that, whatever the level of anxiety, two variables are always significant in all the contrast models: participants felt the effects of lockdown on a personal level and found it difficult to carry out their work. The results also indicate that teachers working in primary and secondary education were those most affected by the strict, prolonged lockdown and that female teachers suffered much higher levels of anxiety than male teachers.

This article presents and discusses the results of an educational innovation that seeks to introduce the world of molecular gastronomy in chemistry lessons as a means to review stoichiometry and offer an alternative way to learn. In the literature to date, there is no evidence of haute cuisine having been employed to contextualize stoichiometry problem statements with its everyday applications. The proposed novel strategy, called "MasterChemist", involved the participation of Spanish first-year university students taking the subject General Chemistry in the Bachelor's Degree in Chemical Engineering. A Game-Based Learning (GBL) approach was used to solve the exercises and make the activity more appealing and interesting by adding fun to the learning process. The problems were contextualized in the use of siphons, isomalt sugar, and the spherification technique. Furthermore, dividing students into groups also boosted their cooperative skills. The students' answers to a final survey revealed that the general opinion regarding the activity was highly positive. The undergraduates reviewed some stoichiometry concepts which we had previously observed that they had problems understanding. In addition, the attractive theme of haute cuisine made the activity dynamic and enjoyable both for students and for the teacher.

Background: Skin cancer incidence is increasing alarmingly, despite current efforts trying to improve its early detection. Community pharmacists have proven success in implementing screening protocols for a number of diseases because of their skills and easy access. Objective: To evaluate the prevalence of skin cancer risk factors and the photoprotection habits with a questionnaire in community pharmacy users. Methods: A research group consisting of pharmacists and dermatologists conducted a descriptive cross-sectional study to assess photoprotection habits and skin cancer risk factors by using a validated questionnaire in 218 community pharmacies in Barcelona from May 23rd to June 13th 2016. All participants received health education on photoprotection and skin cancer prevention. Patients with ≥1 skin cancer risk factor were referred to their physician, as they needed further screening of skin cancer. Results: A total of 5,530 participants were evaluated. Of those, only 20.2% participants had received a total body skin examination for skin cancer screening in the past by a physician and 57.1% reported using a SPF 50+ sunscreen. 53.9% participants presented ≥1 skin cancer risk factor: 11.8% participants reported having skin cancer familial history and 6.2% reported skin cancer personal history; pharmacists found ≥10 melanocytic nevi in 43.8% participants and chronically sun-damaged skin in 21.4%. Lesions suspicious for melanoma were reported in 10.9% of the participants and urgent dermatological evaluation was recommended. Conclusions: Pharmacists can detect people with skin cancer risk factors amongst their users. This intervention can be considered in multidisciplinary strategies of skin cancer screening. [ABSTRACT FROM AUTHOR]

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Over the past years, a growing environmental awareness in our society has run parallel with the development and implementation of environmental management systems in tourism destinations. The Blue Flag classification system for beach coastal systems tries to justify environmental quality, even when these areas have long lost their geomorphological and ecologic features. The aim of this project is to test if the Blue Flag management system really ensures an improvement of environmental and natural features of beaches, or if they are just a mechanism for improving the services and benefits to users. Thus, 481 beaches of the Spanish coastline awarded with a Blue Flag have been analyzed over the period 2007–2012 using different environmental variables. ACP and Cluster (Bray Curtis similarity) analysis show that the beaches are not characterized for their naturalness; instead they show high levels of human influence and artificialization. The concession of Blue Flag award is strictly focused on services offered to the users of the beach, and they do not take in account environmental and ecological issues related to the behavior of beaches as natural and fragile systems. [ABSTRACT FROM AUTHOR]

Background: Different types of therapies were proven effective for the medical management of motor and non-motor symptoms in Parkinson's disease (PD). We aimed to gain consensus on the dopamine agonist (DA) therapy use in different clinical scenarios of Parkinson's disease (PD) patients., Methods: This consensus study was based on the nominal group technique. Initially, a consensus group comprising 12 expert neurologists in the PD field identified the topics to be addressed and elaborated different evidence-based preliminary statements. Next, a panel of 48 Spanish neurologists expressed their opinion on an internet-based systematic voting program. Finally, initial ideas were reviewed and rewritten according to panel contribution and were ranked by the consensus group using a Likert-type scale. The analysis of data was carried out by using a combination of both qualitative and quantitative methods. The consensus was achieved if the statement reached ≥ 3.5 points in the voting process., Results: The consensus group produced 76 real-world recommendations. The topics addressed included 12 statements related to DA therapy in early PD, 20 statements concerning DA treatment strategy in patients with motor complications, 11 statements associated with DA drugs and their side effects, and 33 statements regarding DA therapy in specific clinical scenarios. The consensus group did not reach a consensus on 15 statements., Conclusion: The findings from this consensus method represent an exploratory step to help clinicians and patients in the appropriate use of DA in different stages and clinical situations of PD., (Copyright © 2023 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

Background and Purpose: Parkinson disease (PD) is a complex and heterogeneous neurodegenerative disorder with a broad spectrum of clinical manifestations, determined by a complex interplay of environmental and genetic factors. This study aimed to investigate genetic variants associated with PD and assess their impact on the disease phenotype through genotype-phenotype correlations., Methods: We employed a targeted resequencing panel to analyze 27 genes linked to PD in a cohort of 1185 PD patients from southern Spain. Variants were categorized based on the American College of Medical Genetics and Genomics pathogenicity criteria. Demographic and clinical data were also collected., Results: Among the patients analyzed, 13.5% carried potential disease-causing pathogenic or likely pathogenic variants in 12 different genes, indicating significant genetic heterogeneity. The most frequently affected genes were LRRK2, PRKN, and GBA1 (accounting for 72.1% of positive cases). Sex-specific differences were observed, with a higher proportion of female patients carrying LRRK2 variants. Differences in age at onset and clinical features were also observed among the different mutated genes. Notably, variants in genes associated with atypical parkinsonism presented distinct clinical presentations, highlighting the importance of genetic factors in the differential diagnosis., Conclusions: Our study provides valuable information on the genetic landscape of PD and its clinical manifestations. The observed genotype-phenotype correlations, along with sex-specific differences, emphasize the complexity of PD pathogenesis, underlining the importance of personalized approaches to PD diagnosis and treatment. Further investigations into genetic interactions and population-specific effects are warranted to enhance our understanding of PD etiology and improve patient care., (© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

The ATP10B gene has been proposed to play an important role in the development of early-onset Parkinson's disease (PD). Nevertheless, various studies have presented controversial conclusions regarding the involvement of this gene in PD. Here, we screened 1162 patients with PD, employing a targeted resequencing approach to investigate the putative relevance of this gene in a large independent cohort of these patients from southern Spain. Variations were classified according to the American College of Medical Genetics and Genomics criteria. Association studies were performed using data of a representative healthy Spanish population from the Medical Genome Project. Frequent variants were excluded. A total of 68 variants (rare or very rare) were detected in our cohort. Among ATP10B variant carriers, 12.9 % were putative compound heterozygous carriers; of these, 25 % were patients with early-onset PD. No evidence of a relation between any rare variants of ATP10B and PD risk was observed. Therefore, our results do not support a role for ATP10B in the onset of PD, or in the risk of developing it., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019., Patients and Methods: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019., Results: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7., Conclusions: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials., (Copyright © 2021 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

Background: There is a need for identifying risk factors for hospitalization in Parkinson's disease (PD) and also interventions to reduce acute hospital admission., Objective: To analyze the frequency, causes, and predictors of acute hospitalization (AH) in PD patients from a Spanish cohort., Methods: PD patients recruited from 35 centers of Spain from the COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015) cohort from January 2016 to November 2017, were included in the study. In order to identify predictors of AH, Kaplan-Meier estimates of factors considered as potential predictors were obtained and Cox regression performed on time to hospital encounter 1-year after the baseline visit., Results: Thirty-five out of 605 (5.8%) PD patients (62.5±8.9 years old; 59.8% males) presented an AH during the 1-year follow-up after the baseline visit. Traumatic falls represented the most frequent cause of admission, being 23.7% of all acute hospitalizations. To suffer from motor fluctuations (HR [hazard ratio] 2.461; 95% CI, 1.065-5.678; p = 0.035), a very severe non-motor symptoms burden (HR [hazard ratio] 2.828; 95% CI, 1.319-6.063; p = 0.008), falls (HR 3.966; 95% CI 1.757-8.470; p = 0.001), and dysphagia (HR 2.356; 95% CI 1.124-4.941; p = 0.023) was associated with AH after adjustment to age, gender, disease duration, levodopa equivalent daily dose, total number of non-antiparkinsonian drugs, and UPDRS-IIIOFF. Of the previous variables, only falls (HR 2.998; 95% CI 1.080-8.322; p = 0.035) was an independent predictor of AH., Conclusion: Falls is an independent predictor of AH in PD patients.

Introduction: Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been reported with a more variable clinical phenotype in other countries. Cases have recently been described of muscular dystrophy, arthrogryposis, and cardiomyopathy due to SYNE1 mutations., Objective: To describe clinical and molecular findings from 4 patients (3 men and one woman) diagnosed with ARCA1/SCAR8 from 3 Spanish families from different regions., Material and Methods: We describe the clinical, paraclinical, and genetic results from 4 patients diagnosed with ARCA1/SCAR8 at different Spanish neurology departments., Results: Onset occurred in the third or fourth decade of life in all patients. After 15 years of progression, 3 patients presented pure cerebellar syndrome, similar to the Canadian patients; the fourth patient, with over 30 years' progression, presented vertical gaze palsy, pyramidal signs, and moderate cognitive impairment. In all patients, MRI studies showed cerebellar atrophy. The genetic study revealed distinct pathogenic SYNE1 mutations in each family., Conclusions: ARCA1/SCAR8 can be found worldwide and may be caused by many distinct mutations in the SYNE1 gene. The disease may manifest with a complex phenotype of varying severity., (Copyright © 2019 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

Safinamide is a new add-on drug to levodopa for the treatment of Parkinson's disease (PD) with motor fluctuations. Due to the recent incorporation of safinamide into routine clinical practice, no post-authorisation phase IV studies on the safety of safinamide have been conducted to date. This study provides clinical management guidelines for safinamide based on the opinion of a group of experts in movement disorders. This project was developed in 2 phases: 16 local meetings in phase 1 and a national meeting in phase 2. The meetings followed a pre-established agenda. The present clinical practice guidelines are based on the main conclusions reached during the national meeting. The group concluded that safinamide is effective in reducing motor and non-motor fluctuations. PD patients with mild-to-moderate fluctuations benefit most from treatment, although the drug may also improve the clinical status of patients with advanced PD. The dose of other dopaminergic drugs may be reduced after introducing safinamide, which would contribute to reducing such adverse reactions as impulse control disorder. At doses higher than those usually prescribed, safinamide may also improve dyskinesia. The experts agreed that safinamide is well tolerated and causes few adverse reactions when compared with placebo., (Copyright © 2020. Published by Elsevier España, S.L.U.)

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. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed., Results: Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively., Conclusions: There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype., (© 2020 European Academy of Neurology.)

Objectives: To compare the characteristics of patients undergoing treatment with continuous intestinal infusion of levodopa-carbidopa (CIILC) for advanced Parkinson's disease and the data on the effectiveness and safety of CIILC in the different autonomous communities (AC) of Spain., Methods: A retrospective, longitudinal, observational study was carried out into 177 patients from 11 CAs who underwent CIILC between January 2006 and December 2011. We analysed data on patients' clinical and demographic characteristics, variables related to effectiveness (changes in off time/on time with or without disabling dyskinesia; changes in Hoehn and Yahr scale and Unified Parkinson's Disease Rating Scale scores; non-motor symptoms; and Clinical Global Impression scale scores) and safety (adverse events), and the rate of CIILC discontinuation., Results: Significant differences were observed between CAs for several baseline variables: duration of disease progression prior to CIILC onset, off time (34.9-59.7%) and on time (2.6-48.0%; with or without disabling dyskinesia), Hoehn and Yahr score during on time, Unified Parkinson's Disease Rating Scale-III score during both on and off time, presence of≥ 4 motor symptoms, and CIILC dose. Significant differences were observed during follow-up (> 24 months in 9 of the 11 CAs studied) for the percentage of off time and on time without disabling dyskinesia, adverse events frequency, and Clinical Global Impression scores. The rate of CIILC discontinuation was between 20-40% in 9 CAs (78 and 80% in remaining 2 CAs)., Conclusions: This study reveals a marked variability between CAs in terms of patient selection and CIILC safety and effectiveness. These results may have been influenced by patients' baseline characteristics, the availability of multidisciplinary teams, and clinical experience., (Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background: Depression and impulse control disorders (ICDs) are both common in Parkinson's disease (PD) patients and their coexistence is frequent. Our aim was to determine the relationship between depression and impulsive-compulsive behaviors (ICBs) in a large cohort of PD patients., Methods: PD patients recruited from 35 centers of Spain from the COPPADIS cohort from January 2016 to November 2017 were included in the study. The QUIP-RS (Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale) was used for screening ICDs (cutoff points: gambling ≥6, buying ≥8, sex≥8, eating≥7) and compulsive behaviors (CBs) (cutoff points: hobbyism-punding ≥7). Mood was assessed with the BDI-II (Beck Depression Inventory - II) and major, minor, and subthreshold depression were defined., Results: Depression was more frequent in PD patients with ICBs than in those without: 66.3% (69/104) vs 47.5% (242/509); p<0.0001. Major depression was more frequent in this group as well: 22.1% [23/104] vs 14.5% [74/509]; p=0.041. Considering types of ICBs individually, depression was more frequent in patients with pathological gambling (88.9% [8/9] vs 50.2% [303/603]; p=0.021), compulsive eating behavior (65.9% [27/41] vs 49.7% [284/572]; p=0.032), and hobbyism-punding (69% [29/42] vs 49.4% [282/571]; p=0.010) than in those without, respectively. The presence of ICBs was also associated with depression (OR=1.831; 95%CI 1.048-3.201; p=0.034) after adjusting for age, sex, civil status, disease duration, equivalent daily levodopa dose, antidepressant treatment, Hoehn&Yahr stage, non-motor symptoms burden, autonomy for activities of daily living, and global perception of QoL., Limitations: Cross-sectional design., Conclusions: Depression is associated with ICBs in PD. Specifically, with pathological gambling, compulsive eating behavior, and hobbyism-punding., (Copyright © 2020. Published by Elsevier B.V.)

The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson's disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS-2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment-related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose.

Lipoprotein receptor-related protein 10 (LRP10) has been proposed as a novel causative gene for autosomal dominant Parkinson's disease (PD), and the c.919T>A (p.Tyr307Asn) variant has been identified as possibly involved in the development of familial PD and PD with dementia. We screened for the p.Tyr307Asn variant in a southern Spain population of 679 PD patients, of who 129 were familial cases, and 1217 unrelated healthy controls. A total of 3 carriers of the LRP10 p.Tyr307Asn variant were identified: 1 PD patient and 2 healthy controls. Together with the absence of a family history of PD, this finding might suggest a low penetrance variant as well as a limited role for p.Tyr307Asn in PD in our cohort. Nevertheless, a family history of Alzheimer's disease in the LRP10 p.Tyr307Asn carriers provides evidence for a possible association with dementia., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases., Objectives: To perform the largest PD genome-wide association study restricted to a single country., Methods: We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses., Results: We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls., Conclusions: Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain. © 2019 International Parkinson and Movement Disorder Society., (© 2019 International Parkinson and Movement Disorder Society.)

Recently, 5 previously Parkinson's disease (PD)-related loci: ACMSD/TMEM163, STK39, MIR4697, SREBF1/RAI1PD and MAPT, have been associated to PD in a Southern Spanish population. However, due to the small sample size of the cohort, this association did not reach genome wide significance. Our aim was to investigate the robustness of this association in a larger and independent cohort from the South of Spain. Variants were genotyped employing TaqMan SNP Genotyping Assay and high resolution melting analysis in 738 PD patients and 1138 healthy controls. Furthermore, a meta-analysis study was carried out with both cohorts. In the replication analysis, only two loci (ACMSD/TMEM163 and MAPT) were replicated with a Bonferroni significance level. In the meta-analysis study no loci reached a genome-wide significance level (P<5xE-8), but a suggestive association (P-value = 1.04E-6) between rs6430538 (ACMSD/TMEM163) and an increased risk of PD was found. In addition, rs9468 (MAPT) was associated with a decreased risk of PD (P-value = 5.70E-7). Our results add further support for the genetic involvement of these two loci in the susceptibility to PD in population from the South of Spain. We believe that our findings will be very useful for future genetic studies on PD., (Copyright © 2019. Published by Elsevier B.V.)

Background and Purpose: In Parkinson's disease (PD), the course of the disorder is highly variable between patients. Well-designed, prospective studies for identifying PD progression biomarkers are necessary. Our aim was to show the results of baseline evaluations of an ongoing global PD project, COPPADIS-2015 (Cohort of Patients with PArkinson's DIsease in Spain, 2015)., Methods: This was an observational, descriptive, nationwide study (Spain). The recruitment period ended in October 2017. Baseline evaluation included more than 15 validated scales and complementary studies in a subgroup of participants., Results: In total, 1174 subjects from 35 centres were considered valid for baseline analysis: 694 patients (62.6 ± 8.9 years old, 60.3% males), 273 caregivers (58.5 ± 11.9 years old, 31.8% males) and 207 controls (61 ± 8.3 years old, 49.5% males). The mean disease duration was 5.5 ± 4.4 years. Hoehn and Yahr stage was 1 or 2 in 90.7% of the patients whilst 33.9% and 18.1% of them presented motor fluctuations and dyskinesias, respectively. The mean Non-Motor Symptoms Scale total score was 45.4 ± 38.1, and 30.4% of the patients presented cognitive impairment, 16.1% major depression, 12.7% impulse control disorder, 7.2% compulsive behaviour, 57.2% pain and 13.2% falls. Compared to the control group, PD patients presented a significantly higher burden of non-motor symptoms and a worse quality of life. More than 300 subjects conducted complementary studies (serum biomarkers, genetic and neuroimaging)., Conclusions: Parkinson's disease is a complex disorder and different non-motor symptoms are frequently present and are more prevalent than in controls. In real clinical practice it is important to ask for them., (© European Academy of Neurology 2019.)

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways., Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets., Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444., Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series., (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

Researching genetic factors involved in Parkinson's disease (PD) is crucial to increase our knowledge about the pathophysiology of the disorder. A missense mutation has recently been reported within CHCHD2, a gene newly associated with autosomal dominant PD. Subsequent studies in different ethnic populations have not reached any conclusive result about the role of CHCHD2 in PD. Therefore, the aim of this study was to investigate the implication of this gene for a PD population from southern Spain (including 536 PD patients and 518 unrelated control subjects). We studied all 4 exons of CHCHD2 and their exon-intron boundary regions. Four variants were observed in non-coding regions. No significant differences were observed in the allele frequencies of these variants between patients and controls. Thus, our study suggests that CHCHD2 is probably not involved in the etiopathogenesis of PD in our population., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Mutations in FBXO7 (PARK15) have been associated with a syndrome characterized by early-onset progressive parkinsonism with and without pyramidal tract signs. Therefore, our aim was to analyze this gene in a population from southern Spain (338 Parkinson's disease [PD] patients and 330 unrelated control subjects) to elucidate the potential involvement of FBXO7 in PD pathogenesis. We identified 17 variants (11 novel), including 10 missense substitutions, 3 synonymous, and 4 intronic alterations. Six substitutions were described as putatively damaging by the bioinformatics tools and 1 intronic variation was described to affect splicing. Minor allele frequencies of the highly polymorphic coding single nucleotide polymorphisms (SNPs) in PD patients and control subjects were similar. All rare variants were heterozygous. No deletions or duplications involving FBXO7 exons were identified. Our results suggest that the involvement of the FBXO7 gene in PD is very rare, at least in this population from southern Spain., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Background and Purpose: Uric acid (UA) is thought to have an antioxidant effect on the central nervous system and may also prevent cerebral damage induced by oxidative stress. Our study aimed to investigate whether patients with Parkinson's disease (PD) had lower serum UA concentrations than controls and whether UA concentration was related to clinical parameters of the disease., Methods: We included 161 patients with PD and 178 controls from southern Spain. UA concentration was compared between these two groups. Clinical parameters including severity of the disease were related to serum UA., Results: Patients with PD showed statistically significant lower serum UA concentrations than controls. Serum UA concentration was lower in patients with PD in severe stages (4 and 5) than in those in moderate stage (2) according to the modified Hoehn and Yahr scale. Other clinical parameters were not related to serum UA concentration, except for levodopa equivalent daily dose that was associated with lower serum UA concentration in men., Conclusions: Our study produced consistent findings that UA might have a protective effect against PD and could influence its clinical progression., (© 2012 The Author(s) European Journal of Neurology © 2012 EFNS.)

Background: Common variants in the LRRK2 gene influence the risk of Parkinson's disease (PD) in Asians, but whether the same is true in European-derived populations is less clear., Methods: We genotyped 66 LRRK2 tagging single-nucleotide polymorphisms (SNPs) in 575 PD patients and 689 controls from the northwestern United States (tier 1). PD-associated SNPs (P < .05) were then genotyped in an independent sample of 3617 cases and 2512 controls from the United States and Spain (tier 2). Logistic regression was used to model additive SNP genotype effects adjusted for age and sex among white individuals., Results: Two regions showed independent association with PD in tier 1, and SNPs in both regions were successfully replicated in tier 2 (rs10878226, combined odds ratio [OR], 1.20; 95% confidence interval [CI], 1.08-1.33; P = 6.3 × 10(-4); rs11176013, OR, 0.89; CI, 0.83-0.95; P = 4.6 × 10(-4))., Conclusions: Our data suggest that common variation within LRRK2 conveys susceptibility for PD in individuals of European ancestry., (Copyright © 2012 Movement Disorder Society.)

Aim: To determine the prevalence of peri-implant diseases in private practice patients enrolled in a periodontal maintenance programme., Material and Methods: A cross-sectional study was carried out in patients with dental implants attending the dental clinic to comply with a periodontal maintenance programme between January and June 2010. Implants with at least 1 year of loading time (range: 1-18 years) were included. A patient-based prevalence analysis of peri-implant diseases was carried out. Additionally, implants were classified into the following categories: healthy, clinically stable, mucositis and peri-implantitis., Results: A total of 245 patients (964 dental implants) were analysed. Implant and patient-based peri-implantitis prevalences were 9.1% [95% confidence interval (95%CI): 7.5-11.1%] and 16.3% [95%CI: 12.2-21.5%] respectively. Mucositis affected 21.6% [95%CI: 19.1-24.5%] of the studied implants and 38.8% [95%CI: 33.3-45.4%] of the patients., Conclusions: The prevalence of peri-implantitis in private practice patients enrolled in a periodontal maintenance programme was estimated to be between 12% and 22%. Almost 40% of the patients had mucositis. These prevalences are similar to those published in University environment samples., (© 2012 John Wiley & Sons A/S.)

Introduction: In previous publications we analysed the tendency of mortality from cerebrovascular diseases (CVD) in Andalusia over the period 1975-1992, and we observed a marked decrease in the mortality rates in both sexes. AIMS. To describe the evolution of mortality from CVD in Andalusia throughout the period 1975-1999., Patients and Methods: Deaths from CVD over the period 1975 1999 were obtained from the Instituto Andaluz de Estadística. We employed the direct method of standardisation of rates (world standard population). The rates were subjected to logarithmic transformations and the regression lines were adjusted., Results: A considerable decrease was found in the rates: 3.9% in males and 4.0% in females. The drop in truncated rates (35 64 years old) was greater in women ( 5.9%) than in men ( 4.3%)., Conclusions: Our work shows a marked and continuous decrease in mortality from CVD in Andalusia (1975-1999). In accordance with the process of aging of the population, the magnitude of CVD measured in terms of deaths, invalidity and health costs still represents a great challenge for preventative and health care policies.

Objectives: To determine whether the mitochondrial DNA (mtDNA) A4336G mutation represents a risk factor for Spanish patients with both Alzheimer's disease (AD) and Parkinson's disease (PD)., Material and Methods: One hundred and sixty-one AD and 106 PD unrelated patients were included in the study. Seventy-eight age-matched and 144 randomly chosen healthy subjects served as controls. The frequency of the A4336G mutation in these groups was compared using the chi(2) and Fisher's exact tests. p < 0.05 was established as a statistically significant differential value., Results: The mtDNA A4336G mutation was present in 1/161 of AD patients (0.6%), in 3/106 of PD patients (2.8%), in 1/78 of age-matched controls (1.3%) and in 2/144 of the randomly chosen controls (1.4%). These differences were not statistically significant., Conclusion: Our results do not support the hypothesis that this mutation represents a risk factor for either AD or PD patients, at least in the case of this Spanish sample., (Copyright 2002 S. Karger AG, Basel)