Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 262
Filtrar
Más filtros

Banco de datos
País/Región como asunto
Tipo del documento
Intervalo de año de publicación
1.
Artículo en Inglés | MEDLINE | ID: mdl-38429083

RESUMEN

BACKGROUND: Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread. OBJECTIVE: To provide accurate information on the relationship between sex differences, motor phenomenology, dystonia-associated features and the natural history of IAOD. METHODS: Data of 1701 patients with IAOD from the Italian Dystonia Registry were analysed. RESULTS: Women predominated over men in blepharospasm, oromandibular, laryngeal and cervical dystonia; the sex ratio was reversed in task-specific upper limb dystonia; and no clear sex difference emerged in non-task-specific upper limb dystonia and lower limb dystonia. This pattern was present at disease onset and the last examination. Women and men did not significantly differ for several dystonia-associated features and tendency to spread. In women and men, the absolute number of individuals who developed dystonia tended to increase from 20 to 60 years and then declined. However, when we stratified by site of dystonia onset, different patterns of female-to-male ratio over time could be observed in the various forms of dystonia. CONCLUSIONS: Our findings provide novel evidence on sex as a key mediator of IAOD phenotype at disease onset. Age-related sexual dimorphism may result from the varying exposures to specific age-related and sex-related environmental risk factors interacting in a complex manner with biological factors such as hormonal sex factors.

2.
Mov Disord ; 39(6): 1043-1048, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38468604

RESUMEN

BACKGROUND: Progressive supranuclear palsy (PSP) is a rare 4R-tauopathy. Transcranial direct current stimulation (tDCS) may improve specific symptoms. OBJECTIVES: This randomized, double-blinded, sham-controlled trial aimed at verifying the short-, mid-, and long-term effect of multiple sessions of anodal tDCS over the left dorsolateral prefrontal cortex (DLPFC) cortex in PSP. METHODS: Twenty-five patients were randomly assigned to active or sham stimulation (2 mA for 20 minute) for 5 days/week for 2 weeks. Participants underwent assessments at baseline, after the 2-week stimulation protocol, then after 45 days and 3 months from baseline. Primary outcomes were verbal and semantic fluency. The efficacy was verified with analysis of covariance. RESULTS: We failed to detect a significant effect of active stimulation on primary outcomes. Stimulation was associated to worsening of specific behavioral complaints. CONCLUSIONS: A 2-week protocol of anodal left DLPFC tDCS is not effective in PSP. Specific challenges in running symptomatic clinical trials with classic design are highlighted. © 2024 International Parkinson and Movement Disorder Society.


Asunto(s)
Corteza Prefrontal , Parálisis Supranuclear Progresiva , Estimulación Transcraneal de Corriente Directa , Humanos , Parálisis Supranuclear Progresiva/terapia , Parálisis Supranuclear Progresiva/fisiopatología , Masculino , Femenino , Estimulación Transcraneal de Corriente Directa/métodos , Anciano , Persona de Mediana Edad , Método Doble Ciego , Corteza Prefrontal/fisiopatología , Resultado del Tratamiento , Corteza Prefontal Dorsolateral/fisiología
3.
Mov Disord ; 39(3): 462-471, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38243775

RESUMEN

The International Parkinson and Movement Disorder Society (MDS) created a task force (TF) to provide a critical overview of the Parkinson's disease (PD) subtyping field and develop a guidance on future research in PD subtypes. Based on a literature review, we previously concluded that PD subtyping requires an ultimate alignment with principles of precision medicine, and consequently novel approaches were needed to describe heterogeneity at the individual patient level. In this manuscript, we present a novel purpose-driven framework for subtype research as a guidance to clinicians and researchers when proposing to develop, evaluate, or use PD subtypes. Using a formal consensus methodology, we determined that the key purposes of PD subtyping are: (1) to predict disease progression, for both the development of therapies (use in clinical trials) and prognosis counseling, (2) to predict response to treatments, and (3) to identify therapeutic targets for disease modification. For each purpose, we describe the desired product and the research required for its development. Given the current state of knowledge and data resources, we see purpose-driven subtyping as a pragmatic and necessary step on the way to precision medicine. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/terapia , Medicina de Precisión , Progresión de la Enfermedad , Comités Consultivos
4.
J Neural Transm (Vienna) ; 131(2): 173-180, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38200268

RESUMEN

OBJECTIVES: The Caregiver's Inventory Neuropsychological Diagnosis Dementia (CINDD) is an easy tool designed to quantify cognitive, behavioural and functional deficits of patients with cognitive impairment. Aim of the present study was to analyse the psychometric properties of the CINDD in Mild Cognitive Impairment (MCI) and Dementia (D). DESIGN, SETTING AND PARTICIPANTS: The CINDD, composed by 9 sub-domains, was administered to fifty-six caregivers of patients with different types of dementia (D) and 44 caregivers of patients with MCI. All patients underwent an extensive neuropsychological assessment, the Neuropsychiatric Inventory (NPI) and functional autonomy scales. The reliability, convergent construct validity and possible cut-off of CINND were measured by Cronbach's alpha (α), Pearson's correlation and ROC analysis, respectively. RESULTS: The D and MCI patients differed only for age (p=0.006). The internal consistency of CINDD was high (α= 0.969). The α-value for each CINDD domain was considered acceptable, except the mood domain (α=0.209). The CINDD total score correlated with cognitive screening tests; each domain of the CINDD correlated with the corresponding score from either tests or NPI (p<0.05), except for visuo-spatial perception skills and apathy. A screening cut-off equal to 59, can be used discriminate D from MCI (Sensitivity=0.70, Specificity=0.57). CONCLUSION: The CINDD is a feasible, accurate and reliable tool for the assessment of cognitive and behavioural difficulties in patients with different degree of cognitive impairment. It may be used to quantify and monitor caregiver-reported ecological data in both clinical and research settings.


Asunto(s)
Disfunción Cognitiva , Demencia , Humanos , Cuidadores/psicología , Psicometría , Reproducibilidad de los Resultados , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/psicología , Pruebas Neuropsicológicas
5.
J Neural Transm (Vienna) ; 131(4): 369-375, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38376582

RESUMEN

A few earlier observations and recent controlled studies pointed to the possible contribution of thyroid diseases in idiopathic adult-onset dystonia (IAOD). The aim of this study was to investigate the association between thyroid status and clinical characteristics of IAOD, focusing on dystonia localization, spread, and associated features such as tremors and sensory tricks. Patients were identified from those included in the Italian Dystonia Registry, a multicentre dataset of patients with adult-onset dystonia. The study population included 1518 IAOD patients. Patients with hypothyroidism and hyperthyroidism were compared with those without any thyroid disease. In the 1518 IAOD patients, 167 patients (11%; 95% CI 9.5-12.6%) were diagnosed with hypothyroidism and 42 (2.8%; 95% CI 1.99-3.74) with hyperthyroidism. The three groups were comparable in age at dystonia onset, but there were more women than men in the groups with thyroid disease. Analysing the anatomical distribution of dystonia, more patients with blepharospasm were present in the hyperthyroidism group, but the difference did not reach statistical significance after the Bonferroni correction. The remaining dystonia-affected body sites were similarly distributed in the three groups, as did dystonia-associated features and spread. Our findings provided novel information indicating that the high rate of thyroid diseases is not specific for any specific dystonia subpopulation and does not appear to influence the natural history of the disease.


Asunto(s)
Distonía , Trastornos Distónicos , Hipertiroidismo , Hipotiroidismo , Enfermedades de la Tiroides , Masculino , Adulto , Humanos , Femenino , Distonía/epidemiología , Factores de Riesgo , Trastornos Distónicos/epidemiología , Hipotiroidismo/epidemiología , Hipertiroidismo/complicaciones , Hipertiroidismo/epidemiología , Sistema de Registros , Italia/epidemiología
6.
Neurol Sci ; 45(3): 1063-1069, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37843691

RESUMEN

BACKGROUND: No tool is currently able to measure digital inclusion in clinical populations suitable for telemedicine. We developed the "Digital Inclusion Questionnaire" (DIQUEST) to estimate access and skills in Parkinson's Disease (PD) patients and verified its properties with a pilot study. METHODS: Thirty PD patients completed the initial version of the DIQUEST along with the Mobile Device Proficiency Questionnaire (MDPQ) and a practical computer task. A Principal Components Analysis (PCA) was conducted to define the DIQUEST factor structure and remove less informative items. We used Cronbach's α to measure internal reliability and Spearman's correlation test to determine the convergent and predictive validity with the MDPQ and the practical task, respectively. RESULTS: The final version of the DIQUEST consisted of 20 items clustering in five components: "advanced skills," "navigation skills," "basic skills/knowledge," "physical access," and "economical access." All components showed high reliability (α > 0.75) as did the entire questionnaire (α = 0.94). Correlation analysis demonstrated high convergent (rho: 0.911; p<0.001) and predictive (rho: 0.807; p<0.001) validity. CONCLUSIONS: We have here presented the development of the DIQUEST as a screening tool to assess the level of digital inclusion, particularly addressing the access and skills domains. Future studies are needed for its validation beyond PD.


Asunto(s)
Enfermedad de Parkinson , Humanos , Enfermedad de Parkinson/diagnóstico , Reproducibilidad de los Resultados , Proyectos Piloto , Computadoras de Mano , Encuestas y Cuestionarios , Psicometría
7.
Neurol Sci ; 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38639893

RESUMEN

INTRODUCTION: Alterations in metabolic status, body composition, and food intake are present in all neurodegenerative diseases. Aim of this study was to detect the progression of these changes in Progressive Supranuclear Palsy (PSP). METHODS: We conducted a longitudinal study of 15 patients with PSP. The assessments were performed at baseline (T0) and after 7(IQR = 5) months of follow-up (T1). We collected anthropometric measures including body weight, height, body mass index and waist circumference, metabolic parameters through indirect calorimeters, body composition using bioimpedance analysis, and dietary habits with a validated questionnaire. PSP-rating scale (PSP-rs) was used to evaluate disease severity and dysphagia. RESULTS: The majority of patients (66.66%) presented PSP-Richardson Syndrome and 33.33% the other variant syndromes of the disease. At T1 there was a decrease in intake of total daily calories (p < 0.001), proteins (p < 0.001), fibers (p = 0.001), calcium (p = 0.008), iron (p < 0.001), zinc (0.034), vitamin E (p = 0.006) and folates (p = 0.038) compared to T0. No other changes were found. As for T1 data, no significant differences were shown according to disease phenotypes or the presence of clinically significant dysphagia for solids. CONCLUSIONS: Within a mid-term follow up, PSP patients presented reduced caloric and proteins intake regardless the presence of dysphagia. The PSP-rs is likely not adequate to assess dysphagia, which should be investigated by specific clinical scales or instrumental examinations. With the goal of maintaining adequate nutritional status, the administration of protein and vitamin supplements should be considered even in the absence of dysphagia evidenced by the rating scales.

8.
Neurol Sci ; 2024 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-38536550

RESUMEN

BACKGROUND: Detailed information about the epidemiological and phenomenological differences among the aetiological subtypes of oromandibular dystonia (OMD) is lacking. Moreover, the OMD tendency to spread to other body sites has never been investigated. AIM: To compare the main demographic and clinical features of OMD in different aetiological groups and assess the risk of spread. MATERIALS AND METHODS: We retrospectively analysed data from patients contained in the Italian Dystonia Registry. The risk of spread was assessed by Kaplan Meyer curves and Cox regression analysis. RESULTS: The study included 273 patients (175 women) aged 55.7 years (SD 12.7) at OMD onset. Female predominance was observed. Idiopathic dystonia was diagnosed in 241 patients, acquired dystonia in 22. In 50/273 patients, dystonia started in the oromandibular region (focal OMD onset); in 96/273 patients the onset involved the oromandibular region and a neighbouring body site (segmental/multifocal OMD onset); and in 127/273 patients OMD was a site of spread from another body region. Sensory trick (ST) and positive family history predominated in the idiopathic group. No dystonia spread was detected in the acquired group, whereas spread mostly occurred within the first five years of history in 34% of the focal OMD onset idiopathic patients. Cox regression analysis revealed ST as a significant predictor of spread (HR, 12.1; 95% CI, 2.5 - 18.8; P = 0.002). CONCLUSION: This large study provides novel information about the clinical phenomenology of idiopathic and acquired OMD. We pointed out a possible role of oestrogens in favouring dystonia development. Moreover, we described for the first time the association between ST and dystonia spread, revealing possible common pathophysiological mechanisms. Our findings may be suggested as a referral point for future pathophysiological and therapeutic studies on OMD.

9.
Mov Disord ; 38(7): 1175-1186, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37226973

RESUMEN

BACKGROUND: A better understanding of pain in adult-onset idiopathic dystonia (AOID) is needed to implement effective therapeutic strategies. OBJECTIVE: To develop a new rating instrument for pain in AOID and validate it in cervical dystonia (CD). METHODS: Development and validation of the Pain in Dystonia Scale (PIDS) comprised three phases. In phase 1, international experts and participants with AOID generated and evaluated the preliminary items for content validity. In phase 2, the PIDS was drafted and revised by the experts, followed by cognitive interviews to ensure self-administration suitability. In phase 3, the PIDS psychometric properties were assessed in 85 participants with CD and retested in 40 participants. RESULTS: The final version of PIDS evaluates pain severity (by body-part), functional impact, and external modulating factors. Test-retest reliability showed a high-correlation coefficient for the total score (0.9, P < 0.001), and intraclass correlation coefficients were 0.7 or higher for all items in all body-parts subscores. The overall PIDS severity score showed high internal consistency (Cronbach's α, 0.9). Convergent validity analysis revealed a strong correlation between the PIDS severity score and the Toronto Western Spasmodic Torticollis Rating Scale pain subscale (0.8, P < 0.001) and the Brief Pain Inventory-short form items related to pain at time of the assessment (0.7, P < 0.001) and impact of pain on daily functioning (0.7, P < 0.001). CONCLUSION: The PIDS is the first specific questionnaire developed to evaluate pain in all patients with AOID, here, demonstrating high-level psychometric properties in people with CD. Future work will validate PIDS in other forms of AOID. © 2023 International Parkinson and Movement Disorder Society.


Asunto(s)
Trastornos Distónicos , Tortícolis , Adulto , Humanos , Tortícolis/complicaciones , Dimensión del Dolor , Reproducibilidad de los Resultados , Dolor , Psicometría , Encuestas y Cuestionarios
10.
Mov Disord ; 38(4): 646-653, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36727539

RESUMEN

BACKGROUND: Movement disorders are frequent in patients with inborn errors of metabolism (IEMs) but poorly recognized, particularly by nonmovement disorder specialists. We propose an easy-to-use clinical screening tool to help recognize movement disorders. OBJECTIVE: The aim is to develop a user-friendly rapid screening tool for nonmovement disorder specialists to detect moderate and severe movement disorders in patients aged ≥4 years with IEMs. METHODS: Videos of 55 patients with different IEMs were scored by experienced movement disorder specialists (n = 12). Inter-rater agreements were determined on the presence and subtype of the movement disorder. Based on ranking and consensus, items were chosen to be incorporated into the screening tool. RESULTS: A movement disorder was rated as present in 80% of the patients, with a moderate inter-rater agreement (κ =0.420, P < 0.001) on the presence of a movement disorder. When considering only moderate and severe movement disorders, the inter-rater agreement increased to almost perfect (κ = 0.900, P < 0.001). Dystonia was most frequently scored (27.3%) as the dominant phenotype. Treatment was mainly suggested for patients with moderate or severe movement disorders. Walking, observations of the arms, and drawing a spiral were found to be the most informative tasks and were included in the screening tool. CONCLUSIONS: We designed a screening tool to recognize movement disorders in patients with IEMs. We propose that this screening tool can contribute to select patients who should be referred to a movement disorder specialist for further evaluation and, if necessary, treatment of the movement disorder. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Distonía , Trastornos Distónicos , Errores Innatos del Metabolismo , Trastornos del Movimiento , Humanos , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/etiología , Trastornos Distónicos/diagnóstico , Errores Innatos del Metabolismo/diagnóstico
11.
Cerebellum ; 22(5): 810-817, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35982370

RESUMEN

The exact pathophysiology of cognitive impairment in multiple system atrophy (MSA) is unclear. In our longitudinal study, we aimed to analyze (I) the relationships between cognitive functions and some subcortical structures, such as putamen and cerebellum assessed by voxel-based morphometry (VBM) and T1-weighted/T2-weighted (T1w/T2w) ratio, and (II) the neuroimaging predictors of the progression of cognitive deficits. Twenty-six patients with MSA underwent a comprehensive neuropsychological battery, motor examination, and brain MRI at baseline (T0) and 1-year follow-up (T1). Patients were then divided according to cognitive status into MSA with normal cognition (MSA-NC) and MSA with mild cognitive impairment (MCI). At T1, we divided the sample according to worsening/non worsening of cognitive status compared to baseline evaluation. Logistic regression analysis showed that age (ß = - 9.45, p = .02) and T1w/T2w value in the left putamen (ß = 230.64, p = .01) were significant predictors of global cognitive status at T0, explaining 65% of the variance. Logistic regression analysis showed that ∆-values of WM density in the cerebellum/brainstem (ß = 2188.70, p = .02) significantly predicted cognitive worsening at T1, explaining 64% of the variance. Our results suggest a role for the putamen and cerebellum in the cognitive changes of MSA, probably due to their connections with the cortex. The putaminal T1w/T2w ratio may deserve further studies as a marker of cognitive impairment in MSA.


Asunto(s)
Disfunción Cognitiva , Atrofia de Múltiples Sistemas , Humanos , Atrofia de Múltiples Sistemas/complicaciones , Atrofia de Múltiples Sistemas/diagnóstico por imagen , Putamen/diagnóstico por imagen , Putamen/patología , Estudios Longitudinales , Imagen por Resonancia Magnética/métodos , Cerebelo/diagnóstico por imagen , Cerebelo/patología , Disfunción Cognitiva/diagnóstico por imagen , Disfunción Cognitiva/patología , Espectroscopía de Resonancia Magnética
12.
J Neural Transm (Vienna) ; 130(10): 1259-1267, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37535119

RESUMEN

Neuropsychiatric symptoms are intrinsic to Progressive Supranuclear Palsy (PSP) and a spoonful of studies investigated their imaging correlates. Describe (I) the frequency and severity of neuropsychiatric symptoms in PSP and (II) their structural imaging correlates. Twenty-six PSP patients underwent Neuropsychiatric Inventory (NPI) and brain 3D T1-weighted MRI. Spearman's rho with Bonferroni correction was used to investigate correlations between NPI scores and volumes of gray matter regions. More than 80% of patients presented at least one behavioral symptom of any severity. The most frequent and severe were depression/dysphoria, apathy, and irritability/lability. Significant relationships were found between the severity of irritability and right pars opercularis volume (p < 0.001) as well as between the frequency of agitation/aggression and left lateral occipital volume (p < 0.001). Depression, apathy, and irritability are the most common neuropsychiatric symptoms in PSP. Moreover, we found a relationship between specific positive symptoms as irritability and agitation/aggression and greater volume of the right pars opercularis cortex and lower volume of the left occipital cortex, respectively, which deserve further investigations.


Asunto(s)
Trastornos Mentales , Parálisis Supranuclear Progresiva , Humanos , Parálisis Supranuclear Progresiva/diagnóstico por imagen , Trastornos Mentales/psicología , Encéfalo/diagnóstico por imagen , Ansiedad , Síntomas Conductuales/diagnóstico por imagen , Síntomas Conductuales/etiología
13.
J Neuropsychiatry Clin Neurosci ; 35(1): 86-91, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-35989570

RESUMEN

OBJECTIVE: Functional neurological disorder (FND) is frequently encountered in clinical practice but commonly misdiagnosed, which might lead to higher direct costs for the health care system. The investigators analyzed the direct costs associated with the diagnosis of FND compared with costs associated with other neurological conditions and explored possible cost trends related to the clinical and demographic features of FND. METHODS: Consecutive patients attending a general neurology clinic were recruited and underwent a structured assessment aimed to collect information pertaining to their demographic and clinical characteristics, as well as data regarding their prior diagnostic processes (e.g., the number of consulted specialists, number and type of investigations, emergency department visits, etc.). The costs were hence calculated and compared between the study groups. RESULTS: A total of 155 consecutive patients were recruited; of these, 18.6% had FND, 55.84% had one or more other neurological disorder (OND), and 27.10% presented with comorbid FND and OND. The total prediagnostic costs (in euros [€]) were higher in the FND group compared with the OND group (median=€289, interquartile range [IQR] €385 vs. median=€98, IQR €216; Mann-Whitney U=879.5, p=0.04). There was a higher diagnostic delay in the FND group compared with the OND group (median=48 months, IQR 60 months vs. median=12 months, IQR 6 months; Mann-Whitney U=162.00, p<0.01). Diagnostic delay significantly correlated with the total costs in the entire study sample (Spearman's ρ=0.25, p=0.003) but more strongly in the FND group (Spearman's ρ=0.81, p<0.001). In the FND group, higher numbers of investigations and costs were associated with the presence of a physiological or psychological trigger and multiple symptoms. CONCLUSIONS: Delayed diagnosis of FND significantly affects health care system costs, and raising awareness about FND to improve the diagnostic process and outcomes is necessary.


Asunto(s)
Trastornos de Conversión , Enfermedades del Sistema Nervioso , Humanos , Diagnóstico Tardío , Derivación y Consulta
14.
Neurol Sci ; 44(3): 889-895, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36401656

RESUMEN

Hyposmia is a common finding in Parkinson's disease (PD) and is usually tested through the University of Pennsylvania Smell Identification Test (UPSIT). The aim of our study is to provide a briefer version of the Italian-adapted UPSIT test, able to discriminate between PD patients and healthy subjects (HS). By means of several univariate and multivariate (machine-learning-based) statistical approaches, we selected 8 items by which we trained a partial-least-square discriminant analysis (PLS-DA) and a decision tree (DT) model: class predictions of both models performed better with the 8-item version when compared to the 40-item version. An area under the receiver operating characteristic (AUC-ROC) curve built with the selected 8 odors showed the best performance (sensitivity 86.8%, specificity 82%) in predicting the PD condition at a cut-off point of ≤ 6. These performances were higher than those previously calculated for the 40-item UPSIT test (sensitivity 82% and specificity 88.2 % with a cut-off point of ≤ 21). Qualitatively, our selection contains one odor (i.e., apple) which is Italian-specific, supporting the need for cultural adaptation of smell testing; on the other hand, some of the selected best discriminating odors are in common with existing brief smell test versions validated on PD patients of other cultures, supporting the view that disease-specific odor patterns may exist and deserve a further evaluation.


Asunto(s)
Trastornos del Olfato , Enfermedad de Parkinson , Humanos , Trastornos del Olfato/diagnóstico , Trastornos del Olfato/etiología , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Olfato/fisiología , Odorantes , Italia
15.
J Neural Transm (Vienna) ; 129(7): 835-846, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35672518

RESUMEN

Since the initial description of Essential Tremor (ET), the entity of ET with rest tremor has proven to be a controversial concept. Some authors argued it could be a late manifestation of ET, others suggested it could be a variant of ET, yet others suggested it could represent a transitional state between ET and Parkinson's disease. The novel tremor classification has proposed the construct of ET-plus to differentiate patients with rest tremor from pure ET. However, there is no clarity of what ET-plus rest tremor represents. With the aim of shedding light on this controversial entity, we have, therefore, systematically reviewed all clinical, electrophysiological, imaging and anatomopathological studies indexed in the Medline database published both before and after the new tremor classification and involving patients with ET-plus rest tremor. Forty-four studies involving 4028 patients were included in this review and analyzed in detail by means of descriptive statistics. The results of the current review suggest that ET-plus rest tremor is a heterogenous group of conditions: thus, rest tremor might represent a late feature of ET, might reflect a different disorder with higher age at onset and lower dependance on genetic susceptibility than ET, might suggest the development of Parkinson's disease or might indicate a misdiagnosis of ET. The reviewed lines of evidence refuse recent claims arguing against the construct of ET-plus, which should be viewed as a syndrome with different possible underpinnings, and highlights methodological issues to be solved in future research.


Asunto(s)
Temblor Esencial , Enfermedad de Parkinson , Bases de Datos Factuales , Temblor Esencial/diagnóstico , Temblor Esencial/patología , Predisposición Genética a la Enfermedad , Humanos , Enfermedad de Parkinson/diagnóstico , Temblor/diagnóstico
16.
J Neural Transm (Vienna) ; 129(10): 1271-1276, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35972697

RESUMEN

The aim of this study is to assess changes in the body distribution and the semeiology of functional motor disorder (FMD) in patients who reported only one or more than one body site affected at FMD onset. Data were obtained from the Italian Registry of Functional Motor Disorders, which included patients with a diagnosis of clinically definite FMDs. The relationship between FMD features and spread to other body sites was estimated by multivariate Cox regression analysis. We identified 201 (49%) patients who reported only one body site affected at FMD onset and 209 (51%) who reported multiple body sites affected at onset. FMD spread from the initial site to another site in 43/201 (21.4%) patients over 5.7 ± 7.1 years in those with only one site affected at FMD onset; FMD spread to an another body site in 29/209 (13.8%) over 5.5 ± 6.5 years. The spread of FMD was associated with non-motor functional symptoms and psychiatric comorbidities only in the patients with one body site affected at FMD onset. Our findings provide novel insight into the natural history of FMD. The number of body sites affected at onset does not seem to have a consistent influence on the risk of spread. Furthermore, our findings suggest that psychiatric comorbidities and non-motor functional symptoms may predict the spread of FMD symptoms, at least in patients with one body site affected at onset.


Asunto(s)
Trastornos Motores , Trastornos del Movimiento , Demografía , Humanos , Trastornos Motores/epidemiología
17.
Eur J Neurol ; 29(12): 3508-3512, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36038356

RESUMEN

BACKGROUND AND PURPOSE: Clinical experience suggests that many patients with functional motor disorders (FMD), despite reporting severe balance problems, typically do not fall frequently. This discrepancy may hint towards a functional component. Here, we explored the role of the Shoulder-Touch test, which features a light touch on the patient's shoulders, to reveal a possible functional etiology of postural instability. METHODS: We enrolled consecutive outpatients with a definite diagnosis of FMD. Patients with Parkinson's disease (PD) or progressive supranuclear palsy (PSP) with postural instability served as controls. Each patient underwent a clinical evaluation including testing for postural instability using the retropulsion test. Patients with an abnormal retropulsion test (score ≥ 1) also received a light touch on their shoulders to explore the presence (S-Touch+) or absence (S-Touch-) of an incongruent, exaggerated postural response, defined as taking three or more steps to recover or a fall if not caught by the examiner. RESULTS: From a total sample of 52 FMD patients, 48 patients were recruited. Twenty-five patients (52%) had an abnormal retropulsion test. Twelve of these 25 patients (48%) had an S-Touch+, either because of need to take two or more steps (n = 4) or a fall if not caught by the examiner (n = 8). None of the 23 PD/PSP patients manifested S-Touch+. The sensitivity of the S-Touch test was 48%, whereas its specificity was 100%. CONCLUSION: The S-Touch test has a high specificity, albeit with a modest sensitivity, to reveal a functional etiology of postural instability in persons with FMD.


Asunto(s)
Trastornos Motores , Enfermedad de Parkinson , Parálisis Supranuclear Progresiva , Humanos , Hombro , Equilibrio Postural/fisiología
18.
Neurol Sci ; 43(9): 5251-5258, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35644829

RESUMEN

OBJECTIVE: The Fist-Palm Test (FiPaT) is a novel non-verbal task to be used at the patient's bedside for a cognitive functions screening. The aims of this study are to analyze (I) the qualitative and quantitative performance features at FiPaT, (II) the psychometric characteristics of FiPaT, and (III) the correlation between FiPat and traditional cognitive assessments in subjects with normal cognition (NC), Mild Cognitive Impairment-single domain (MCI-sd), and Mild Cognitive Impairment-multiple domain (MCI-md). METHODS: One hundred-thirteen subjects (53M/60F), with a mean age of 66.28 ± 7.22 years and 11.08 ± 4.93 years of education, were recruited and underwent a complete neuropsychological battery and FiPaT. RESULTS: We found 68 subjects with NC, 31 with MCI-sd, and 14 with MCI-md and a high reliability of the FiPaT (alpha =0.762). The number of FiPaT errors correlated with age and all neuropsychological tests, except for the memory recall test. Subjects with MCI had greater FiPaT errors than subjects with NC. The FiPaT, used with the MOCA test, predicted the presence of MCI, with a variance of 44%. CONCLUSION: The FiPaT is an acceptable and reliable non-verbal test, able to screen for global cognitive status, attention, and executive functions, and to predict the MCI. Future studies will validate this initial findings as well as the discriminatory role of the FiPaT in detecting specific types of cognitive impairment.


Asunto(s)
Disfunción Cognitiva , Anciano , Cognición , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/psicología , Función Ejecutiva , Humanos , Persona de Mediana Edad , Pruebas Neuropsicológicas , Reproducibilidad de los Resultados
19.
Neurol Sci ; 43(5): 3079-3087, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-34850301

RESUMEN

BACKGROUND: The aims of this explore the psychometric properties of the novel Italian version of the 14-item Resilience Scale (RS-14) and to assess the relationship between RS-14, mood and quality of life. METHOD: The original English version of the RS-14 was translated into Italian, and the Italian version was confirmed with back-translation. Three-hundred healthy volunteers (M = 122) aged > 18 years, completed the RS-14 as well as different scales to measure depression, anxiety and quality of life. Statistical analyses were used to measure the reliability, validity and key factors of RS-14. We measured the differences in socio-demographic subgroups, the relationship between mood and RS-14 score and the impact of RS-14 on mental health. RESULTS: The RS-14 showed good acceptability, reliability and validity. Factor analysis indicated a two-factor structure: 'Self-confidence' and 'Self-control', with the former having a more significant impact on mental health. The RS-14 score was not significantly different for sex, age and education, but there was significant difference for marital status. Lower resilience correlated with higher levels of anxiety and depression and with lower quality of life. CONCLUSION: We propose the novel Italian version of the RS-14 which has good reliability and validity. Our results stress the influence of resilience on mental health.


Asunto(s)
Ansiedad , Calidad de Vida , Adulto , Ansiedad/diagnóstico , Ansiedad/psicología , Análisis Factorial , Humanos , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
20.
Neurol Sci ; 43(6): 3677-3682, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35106692

RESUMEN

BACKGROUND: Richardson's syndrome (RS) is considered the most symmetric phenotype of progressive supranuclear palsy (PSP) as opposed to PSP with predominant corticobasal syndrome (PSP-CBS) or parkinsonism (PSP-P). OBJECTIVES: Evaluate asymmetrical motor and higher cortical features in probable PSP-RS and compare the degree of asymmetry of cortical lobes and hemispheres between PSP-RS, PSP-CBS, PSP-P, and age-matched healthy controls (HC). METHODS: Asymmetry of motor and higher cortical features evaluated with an extensive videotaped neurologic examination was investigated in 28 PSP-RS, 8 PSP-CBS, and 14 PSP-P. Brain MRI to compute the laterality index (LI) was performed in 36 patients as well as in 56 HC. RESULTS: In PSP-RS, parkinsonism was the most common asymmetric motor feature (53.6%), followed by dystonia and myoclonus (21.4% and 17.9%, respectively). Among higher cortical features, limb apraxia was found asymmetric in about one-third of patients. PSP-RS disclosed higher LI for hemispheres compared to HC, indicating a greater degree of asymmetry (p = 0.003). The degree of asymmetry of clinical features was not different between PSP-RS and those qualifying for PSP-CBS or PSP-P. As for imaging, LI was not different between PSP-RS, PSP-CBS, and PSP-P in any cortical region. CONCLUSIONS: Motor and higher cortical features are asymmetric in up to 50% of PSP-RS who also present a greater degree of asymmetry in hemispheres compared to age-matched HC. Lateralization of clinical features should be annotated in PSP.


Asunto(s)
Apraxias , Trastornos Parkinsonianos , Parálisis Supranuclear Progresiva , Humanos , Imagen por Resonancia Magnética , Neuroimagen/métodos , Trastornos Parkinsonianos/diagnóstico por imagen , Parálisis Supranuclear Progresiva/diagnóstico por imagen
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA