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Abstract Cognitive and visual impairment are common in Huntington’s Disease (HD) and may precede motor diagnosis. We investigate the early presence of visual cognitive deficits in 181 participants, including HD carriers (40 pre-manifest, 30 early manifest, 27 manifest, and 6 reduced penetrance) and 78 healthy controls (HC). Significant differences in visual memory were observed between reduced penetrance and pre-manifest groups (p = .003), with pre-manifest showing worse performance. Age, education, CAG repeats, motor status, executive function, and verbal fluency, accounted for up to 72.8% of the variance in general and visual cognitive functions, with motor status having the strongest impact on visual domains in HD carriers. In pre-manifest HD, visual cognitive domains were primarily influenced by executive function, verbal fluency, age, and CAG repeats, while in early and manifest stages motor status and verbal fluency becomes more influential. ROC analyses showed that especially visuospatial abilities, visual memory, and visual attention (AUC = 0.927, 0.878, 0.874, respectively) effectively differentiated HC and pre-manifest from early and manifest HD. Early assessment of visual cognitive domains, particularly visual memory, could be an early marker of cognitive decline in HD. Our findings highlight the different profiles of impairment in visual cognition across HD carriers.

Parkinson’s disease (PD) is characterized by motor and non-motor symptoms. Nutritional alterations are one of the non-motor symptoms that most influence the quality of life (QoL) in PD.ObjectiveTherefore, this review aims to evaluate whether nutritional alterations are related either to the severity of motor and non-motor symptoms through the gut-brain axis or to the different treatments for PD and whether all of this, in turn, impacts the QoL of patients.MethodsA systematic review was carried out in MEDLINE and EMBASE databases, and Mendeley from 2000 to June 2024, searching for articles related to nutritional alterations in PD that alter patients’ QoL. A total of 14 articles (2,187 participants) of 924 records were included.ResultsAmong the 14 studies examined, two investigated the relationship between nutritional status and QoL in patients with PD. Poor nutritional status was associated with lower QoL scores. Four studies explored the connection between nutritional status and its impact on both motor and non-motor symptoms (psychiatric disturbances, cognitive impairment, and fatigue), revealing a link between nutritional status, activities of daily living, and the severity of motor symptoms. Three studies identified changes in body weight associated with the severity of symptoms related to mobility issues in PD patients. Three studies investigated the relationship between different PD treatments and their interaction with changes in weight and energy metabolism, highlighting that weight loss in the early stages of PD needs adequate monitoring of different treatments, as well as the interaction between the central and peripheral nervous systems in regulating these processes. Finally, two studies investigated how gastrointestinal alterations and changes in the microbiota were related to cognitive status, thus identifying them as risk factors and early signs of PD.DiscussionThe systematic review highlighted the significant relationship between nutritional status and QoL in patients with PD, as well as how the PD treatments influenced their weight. An association was also observed in the gut-brain axis, where adequate nutritional status influenced the balance of intestinal microbiota, slowing cognitive decline, improving activities of daily living, and the QoL of PD patients. It is confirmed that the nutritional status of patients influenced both motor and non-motor symptoms of the disease, and therefore their QoL.

Background and objective: Multiple system atrophy is a rare and fatal neurodegenerative disorder, characterized by autonomic dysfunction in association with either parkinsonism or cerebellar signs. The pathologic hallmark is the presence of alpha-synuclein aggregates in oligodendrocytes, forming glial cytoplasmic inclusions. Clinically, it may be difficult to distinguish form other parkinsonisms or ataxias, particularly in the early stages of the disease. In this case series we aim to describe in detail the features of MSA patients. Material and methods: Unified MSA Rating Scale (UMSARS) score, structural and functional imaging and cardiovascular autonomic testing, are summarized since early stages of the disease. Results: UMSARS proved to be useful to perform a follow-up being longitudinal examination essential to stratify risk of poor outcome. Neuropathological diagnosis showed an overlap between parkinsonian and cerebellar subtypes, with some peculiarities that could help to distinguish from other subtypes. Conclusion: A better description of MSA features with standardized test confirmed by means of neuropathological studies could help to increase sensitivity. Resumen: Antecedentes y objetivo: La atrofia multisistémica es un trastorno neurodegenerativo raro y letal que se caracteriza por una disfunción autonómica en asociación con parkinsonismo o signos cerebelosos. La marca anatomopatológica es la presencia de agregados de α-sinucleína en los oligodendrocitos, que forman inclusiones citoplasmáticas gliales. Desde un punto de vista clínico, puede ser difícil de distinguir de otros parkinsonismos o ataxias, particularmente en las primeras etapas de la enfermedad. En esta serie de casos, nuestro objetivo es describir en detalle las características de los pacientes con atrofia multisistémica. Material y métodos: Se resumen los datos objetidos de la puntuación de la Escala de calificación unificada de la atrofia multisistémica (UMSARS), imágenes estructurales y funcionales y las pruebas autonómicas cardiovasculares realizadas desde las primeras etapas de la enfermedad. Resultados: La escala UMSAR demostró ser útil para hacer un seguimiento: el examen longitudinal esencial fue para estratificar el riesgo de peor evolución. El diagnóstico neuropatológico mostró un solapamiento entre los subtipos parkinsoniano y cerebeloso, con algunas peculiaridades que podrían ayudar a distinguir los subtipos. Conclusión: Una mejor descripción de las características de la atrofia multisistémica en casos confirmados mediante neuropatología podría ayudar a aumentar la sensibilidad del diagnóstico.

Abstract Background Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and post-COVID condition can present similarities such as fatigue, brain fog, autonomic and neuropathic symptoms. Methods The study included 87 patients with post-COVID condition, 50 patients with ME/CFS, and 50 healthy controls (HC). The hemodynamic autonomic function was evaluated using the deep breathing technique, Valsalva maneuver, and Tilt test. The presence of autonomic and sensory small fiber neuropathy (SFN) was assessed with the Sudoscan and with heat and cold evoked potentials, respectively. Finally, a complete neuropsychological evaluation was performed. The objective of this study was to analyze and compare the autonomic and neuropathic symptoms in post-COVID condition with ME/CFS, and HC, as well as, analyze the relationship of these symptoms with cognition and fatigue. Results Statistically significant differences were found between groups in heart rate using the Kruskal–Wallis test (H), with ME/CFS group presenting the highest (H = 18.3; p ≤ .001). The Postural Orthostatic Tachycardia Syndrome (POTS), and pathological values in palms on the Sudoscan were found in 31% and 34% of ME/CFS, and 13.8% and 19.5% of post-COVID patients, respectively. Concerning evoked potentials, statistically significant differences were found in response latency to heat stimuli between groups (H = 23.6; p ≤ .01). Latency was highest in ME/CFS, and lowest in HC. Regarding cognition, lower parasympathetic activation was associated with worse cognitive performance. Conclusions Both syndromes were characterized by inappropriate tachycardia at rest, with a high percentage of patients with POTS. The prolonged latencies for heat stimuli suggested damage to unmyelinated fibers. The higher proportion of patients with pathological results for upper extremities on the Sudoscan suggested a non-length-dependent SFN.

IntroductionOlfactory dysfunction (OD) is frequent after SARS-CoV-2 infection. The aim of this study was to examine if long-term OD is common in post-COVID condition, and the relationship between olfaction, cognition, neuropsychiatric symptoms, and disease duration in these patients.MethodsThis study included 121 participants with post-COVID condition and 51 healthy controls (HC). A comprehensive neuropsychological and neuropsychiatric assessment was conducted, encompassing various domains, including general cognition, processing speed, verbal fluency, attention, verbal memory, visual memory, visuoconstructive ability, visuospatial ability, abstraction, executive functions, anxious-depressive symptoms, general health perception, fatigue level, sleep quality, and olfaction. Statistical analyses were carried out to understand the relationship of OD with cognition, and its role as moderator variable.ResultsIn total, 25% of the post-covid patients had a reduced smell capacity, while only 9.3% of HC presented OD. Post-COVID patients had statistically significantly worse cognitive performance and clinical status than HC. Verbal fluency (AUC = 0.85, p

Introduction Long-acting injectable antipsychotics (LAIs) offer advantages for schizophrenic patients compared to oral antipsychotics: less frequent dosing, lower relapse rates, better adherence, and lower healthcare costs. LAIs include paliperidone, aripiprazole, olanzapine, risperidone, and zuclopenthixol. Paliperidone palmitate is the only antipsychotic with two formulations with an administration interval longer than one month (3-monthly and 6-monthly), which could be better for the patient and help ensure treatment continuity, especially in cases of limited access to the health care system. Objectives To assess the satisfaction of patients under treatment with 6-month paliperidone palmitate compared to other long-acting injectable antipsychotics with a higher frequency of administration. Methods We analyzed the satisfaction level of a sample of patients receiving treatment with LAIs at the Mental Health Center of El Escorial. All patients had a diagnosis of schizophrenia or other psychotic disorders (according to DSM-5). Patients who met the inclusion criteria completed the Treatment Satisfaction Questionnaire for Medication (TSQM), a generic questionnaire of treatment satisfaction that measures four dimensions: side effects, treatment efficacy, comfort of use, and overall satisfaction. Other clinical and socio-demographic variables were collected, as well as the type of injectable, dose, and frequency of administration. Results Data from approximately 30 patients will be analyzed and discussed later. Conclusions Less frequent administration of LAIs may result in greater patient satisfaction and be just as beneficial clinically. Treatment satisfaction is positively associated with an improvement in psychotic symptoms and seems to be related to better adherence. Disclosure of Interest None Declared

Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a complex disorder characterized by heterogeneous symptoms, which lack specific biomarkers for its diagnosis. This study aimed to investigate plasma neurofilament light chain (NfL) levels as a potential biomarker for ME/CFS and explore associations with cognitive, autonomic, and neuropathic symptoms. Here, 67 ME/CFS patients and 43 healthy controls (HCs) underwent comprehensive assessments, including neuropsychological evaluation, autonomic nervous system (ANS) testing, and plasma NfL level analysis. ME/CFS patients exhibited significantly higher plasma NfL levels compared to HC (F = 4.30, p < 0.05). Correlations were observed between NfL levels and cognitive impairment, particularly in visuospatial perception (r = −0.42; p ≤ 0.001), verbal memory (r = −0.35, p ≤ 0.005), and visual memory (r = −0.26; p < 0.05) in ME/CFS. Additionally, higher NfL levels were associated with worsened autonomic dysfunction in these patients, specifically in parasympathetic function (F = 9.48, p ≤ 0.003). In ME/CFS patients, NfL levels explained up to 17.2% of the results in cognitive tests. Unlike ME/CFS, in HC, NfL levels did not predict cognitive performance. Elevated plasma NfL levels in ME/CFS patients reflect neuroaxonal damage, contributing to cognitive dysfunction and autonomic impairment. These findings support the potential role of NfL as a biomarker for neurological dysfunction in ME/CFS. Further research is warranted to elucidate underlying mechanisms and clinical implications.

Introduction: We propose a protocol for study of complex regional pain syndrome (CRPS) based on a battery of quantitative measures (skin thermography, electrochemical skin conductance and sensory thresholds) and apply such protocol to 5 representative cases of CRPS. Patients and methods: 5 CPRS cases (2 women/3 men) that met the Budapest criteria for the diagnosis of CRPS. Results: All patients showed spontaneous pain and allodynia. Two cases correspond to a stage I, in both the resting basal temperature was increased in the affected limb. Three cases reflect more advanced stages with a decrease in resting temperature and a delay in the recovery of the temperature when compared to contralateral limb. Discussion: These non-invasive quantitative functional tests not only improve the diagnostic accuracy of CRPS but also, they help us to stratify and understand the pathological processes of the disease. Resumen: Introducción: Proponemos un protocolo para el estudio del síndrome de dolor regional complejo (SDRC) basado en una batería de medidas cuantitativas (termografía cutánea, conductancia electroquímica cutánea y umbrales sensoriales en la prueba sensorial cuantitativa [QST]) y aplicamos dicho protocolo a cinco casos representativos de SDRC. Pacientes y métodos: Se presentan cinco casos de SDRC (dos mujeres/tres hombres) que cumplieron con los criterios de Budapest para el diagnóstico de SDRC. Resultados: Todos los pacientes presentaron dolor espontáneo y alodinia. Dos casos corresponden a un estadio I, en ambos, la temperatura basal de reposo se incrementó en el miembro afectado. Tres casos muestran estadios más avanzados con disminución de la temperatura de reposo y retraso en la recuperación de la temperatura, en comparación con la extremidad contralateral, que reflejan fases más avanzadas de la enfermedad. Discusión: Estas pruebas funcionales cuantitativas no invasivas no solo mejoran la precisión diagnóstica del SDRC sino que también nos ayudan a estratificar las diferentes fases y comprender los procesos patológicos de la enfermedad.

This study examines the role of language environment (number of conversational turns) in the development of socioemotional competencies between 18 and 30 months. The language environment of 43 infants and their social-emotional competencies were measured at 18 months and again at 30 months. Multiple regressions showed a significant contribution of turns at 18 months on socioemotional competencies at 30 months, controlling for their initial levels, child vocalizations, maternal warmth, and social risk. Cross-lagged analysis revealed that the direction of the longitudinal relation between turns and emotional competencies is more likely to go from turns to socioemotional development than the other way around. Implications for theory and research are discussed.

Abstract Background Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is characterized by persistent physical and mental fatigue. The post-COVID-19 condition patients refer physical fatigue and cognitive impairment sequelae. Given the similarity between both conditions, could it be the same pathology with a different precipitating factor? Objective To describe the cognitive impairment, neuropsychiatric symptoms, and general symptomatology in both groups, to find out if it is the same pathology. As well as verify if the affectation of smell is related to cognitive deterioration in patients with post-COVID-19 condition. Methods The sample included 42 ME/CFS and 73 post-COVID-19 condition patients. Fatigue, sleep quality, anxiety and depressive symptoms, the frequency and severity of different symptoms, olfactory function and a wide range of cognitive domains were evaluated. Results Both syndromes are characterized by excessive physical fatigue, sleep problems and myalgia. Sustained attention and processing speed were impaired in 83.3% and 52.4% of ME/CFS patients while in post-COVID-19 condition were impaired in 56.2% and 41.4% of patients, respectively. Statistically significant differences were found in sustained attention and visuospatial ability, being the ME/CFS group who presented the worst performance. Physical problems and mood issues were the main variables correlating with cognitive performance in post-COVID-19 patients, while in ME/CFS it was anxiety symptoms and physical fatigue. Conclusions The symptomatology and cognitive patterns were similar in both groups, with greater impairment in ME/CFS. This disease is characterized by greater physical and neuropsychiatric problems compared to post-COVID-19 condition. Likewise, we also propose the relevance of prolonged hyposmia as a possible marker of cognitive deterioration in patients with post-COVID-19.

The theory of image formation in a microscope proposed by Ernst Abbe changed the scientific approach to microscopy. Though the theory had many detractors, his new approach led to a technological revolution in the design and construction of high-quality microscopes. It paved the way for new discoveries in the fields of biology and medicine. Joaquín María de Castellarnau, was a contemporary connoisseur of Abbe’s ideas who decided to disseminate them in Spain through various publications and training courses. In his lectures, he used various devices for practical demonstrations that allowed some concepts of the new theory to be better understood. At the Museo Nacional de Ciencias Naturales in Madrid (MNCN–CSIC), one such original and unusual instrument designed by Abbe and used by Castellarnau has been preserved in perfect condition. Castellarnau used this instrument for various experiments that helped clarify the most complex points of Abbe’s theory. In this work, we explore how the context in which science developed in Spain favoured practical activities to demonstrate new scientific theories, such as Abbe’s in the early twentieth century.

Parkinson's disease (PD) is a neurodegenerative disorder primarily characterized by motor symptoms, with emerging evidence suggesting retinal pathology, particularly in the ganglion cell-inner plexiform layer (GCIPL), detectable via optical coherence tomography (OCT). This study aimed to characterize early retinal dynamics in PD using OCT. We conducted a prospective one-year longitudinal multicenter study involving 53 early-stage PD patients with a disease duration of 5 years or less and 52 controls. The participants underwent retinal spectral-domain OCT, primary visual function and cognitive examinations. We examined baseline retinal measures and short-term longitudinal differences between groups via linear mixed effects models. In PD patients, the baseline GCIPL thickness in central regions was increased by up to 4 μm, and the rate of thinning in the parafoveal GCIPL was − 0.61 [0.29] µm/year faster over a one-year follow-up period than in controls in the 2- to 3-mm ring (p = 0.039). In PD patients, greater central GCIPL thickness was associated with poorer contrast sensitivity and reduced performance on the Farnsworth D15 color vision test. It also predicted subsequent thinning in both the GCIPL (2- to 3-mm ring) and the inner nuclear layer (2- to 5-mm rings). However, this increased thickness was not linked to prevalent or progressive motor or cognitive manifestations. In conclusion, this study provides the first detailed topographical description of early retinal dynamics in PD patients, revealing increased central GCIPL thickness and accelerated parafoveal GCIPL thinning in PD. However, the macular region shows complex and variable dynamics among PD patients, but these changes precede detectable progression in clinical scales. [ABSTRACT FROM AUTHOR]

Abstract Heart rate variability (HRV) abnormalities are potential early biomarkers in Parkinson’s disease (PD) but their relationship with central autonomic network (CAN) activity is not fully understood. We analyzed the synchronization between HRV and brain activity in 31 PD patients and 21 age-matched healthy controls using blood-oxygen-level-dependent (BOLD) signals from resting-state functional brain MRI and HRV metrics from finger plethysmography recorded for 7.40 min. We additionally quantified autonomic symptoms (SCOPA-AUT) and objective autonomic cardiovascular parameters (blood pressure and heart rate) during deep breathing, Valsalva, and head-up tilt, which were used to classify the clinical severity of dysautonomia. We evaluated HRV and BOLD signals synchronization (HRV-BOLD-sync) with Pearson lagged cross-correlations and Fisher’s statistics for combining window-length-dependent HRV-BOLD-Sync Maps and assessed their association with clinical dysautonomia. HRV-BOLD-sync was lower significantly in PD than in controls in various brain regions within CAN or in networks involved in autonomic modulation. Moreover, heart-brain synchronization index (HBSI), which quantifies heart-brain synchronization at a single-subject level, showed an inverse exposure–response relationship with dysautonomia severity, finding the lowest HBSI in patients with severe dysautonomia, followed by moderate, mild, and, lastly, controls. Importantly, HBSI was associated in PD, but not in controls, with Valsalva pressure recovery time (sympathetic), deep breathing E/I ratio (cardiovagal), and SCOPA-AUT. Our findings support the existence of heart-brain de-synchronization in PD with an impact on clinically relevant autonomic outcomes.

Abstract The maintained attention is the cause of great functional limitations in CFS/ME, a disease that mainly affects women in the central period of life. Cognitive function is explored using the Montreal Cognitive Assessment, the maintained attention using the Toulouse-Piéron test with which the Global Index of Attention and Perception (GIAP) is obtained, the fatigue using the visual analog scale and the perception of effort using the modified Borg scale. The final sample were 84 patients (66 women/18 men) who met diagnostic criteria (Fukuda-1994, Carruthers-2011) and 22 healthy controls (14 women/8 men). Most of patients maintain normal cognitive function, showing low or very low attention score in the 70% of patients with a marked cognitive fatigue compared to the control group (p

Abstract Alterations in time-varying functional connectivity (FC) have been found in Parkinson’s disease (PD) patients. To date, very little is known about the influence of sex on brain FC in PD patients and how this could be related to disease severity. The first objective was to evaluate the influence of sex on dynamic FC characteristics in PD patients and healthy controls (HC), while the second aim was to investigate the temporal patterns of dynamic connectivity related to PD motor and non-motor symptoms. Ninety-nine PD patients and sixty-two HC underwent a neuropsychological and clinical assessment. Rs-fMRI and T1-weighted MRI were also acquired. Dynamic FC analyses were performed in the GIFT toolbox. Dynamic FC analyses identified two States: State I, characterized by within-network positive coupling; and State II that showed between-network connectivity, mostly involving somatomotor and visual networks. Sex differences were found in dynamic indexes in HC but these differences were not observed in PD. Hierarchical clustering analysis identified three phenotypically distinct PD subgroups: (1) Subgroup A was characterized by mild motor symptoms; (2) Subgroup B was characterized by depressive and motor symptoms; (3) Subgroup C was characterized by cognitive and motor symptoms. Results revealed that changes in the temporal properties of connectivity were related to the motor/non-motor outcomes of PD severity. Findings suggest that while in HC sex differences may play a certain role in dynamic connectivity patterns, in PD patients, these effects may be overcome by the neurodegenerative process. Changes in the temporal properties of connectivity in PD were mainly related to the clinical markers of PD severity.