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1.
J Neuroophthalmol ; 44(1): 35-40, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37523235

RESUMO

BACKGROUND: Essential tremor (ET) represents a heterogeneous condition which may overlap with Parkinson disease (PD) even at early stages, by sharing some subtle clinical aspects. Longstanding ET demonstrated also higher risk of developing PD, especially with a Tremor-dominant (TD-PD) phenotype. Therefore, differential diagnosis between ET and early PD could be quite challenging. Optical coherence tomography (OCT) has been recognized as a reliable tool to assess the retina as a proxy of neurodegeneration. We aimed to explore the possible role of retinal assessment in differential diagnosis between ET and early PD. METHODS: Macular layers and peripapillary retinal nerve fiber layer (RNFL) thickness among ET, early PD, and healthy controls (HCs) were assessed using OCT. RESULTS: Forty-two eyes from 23 ET, 41 eyes from 21 early PD, and 33 eyes from 17 HCs were analyzed. Macular RNFL, ganglion cell layer, inner plexiform layer, and inner nuclear layer were thinner in PD as compared with ET and even more in HCs. Differences between ET and PD were more evident when considering the TD-PD subgroup, especially for RNFL. Among ET patients, thickness of the inner macular layers showed negative linear relationship with both age at onset and disease duration. Peripapillary temporal quadrant thinning was found in ET compared with HCs. CONCLUSIONS: Macular inner retina was thinner in patients with ET and early PD compared with HCs. These findings suggest that the retinal assessment may have a utility in the differential diagnosis between ET and PD.


Assuntos
Tremor Essencial , Doença de Parkinson , Humanos , Tremor Essencial/diagnóstico , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Retina/diagnóstico por imagem , Tomografia de Coerência Óptica
2.
Mov Disord ; 38(4): 626-635, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36840442

RESUMO

BACKGROUND: Long-duration response (LDR) to levodopa and motor learning could be involved in changes in neuroplasticity of cortical excitability in Parkinson's disease (PD). P300, motor evoked potentials (MEPs), and Bereitschaftspotential (BP) are neurophysiological surrogate markers of neuroplasticity. OBJECTIVE: We aimed to define in PD the effects of LDR and motor learning on neurophysiological parameters involved in neuroplasticity. METHODS: Drug-naive PD patients underwent a 15-day treatment with levodopa/carbidopa 250/25 mg daily. Achievement of LDR was assessed on the 15th day of treatment (T15). Patients were grouped based on the achievement of a sustained LDR (LDR+) or no LDR (LDR-) and to the assignment of a learning motor exercise (LME) or no motor exercise (NME). Patients underwent clinical and neurophysiological (P300, MEPs, and BP) assessments at baseline (T0) and on T15. RESULTS: Forty-one PD patients and 24 age- and sex-matched normal controls (NCs) were enrolled. Neurophysiological parameters differed between untreated PD patients and NCs. Four groups of patients were obtained at the end of treatments: trained patients with a sustained LDR (LDR + LME group), untrained patients with a sustained LDR (LDR + NME group), trained patients without LDR (LDR-LME group), and untrained patients without LDR (LDR-NME group). At baseline, no differences in clinical and neurophysiological parameters were evident among the groups. After the treatments, significant improvements in neurophysiological parameters were observed in the LDR + LME group. No modifications were found in the groups without LDR. CONCLUSIONS: The achievement of a sustained LDR may act synergistically with motor learning to induce adaptive changes in neuroplasticity in basal ganglia and cortical networks. Our findings support LDR as a pharmacological outcome possibly facilitating the action of motor learning on neuroplasticity in early PD. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Assuntos
Levodopa , Doença de Parkinson , Humanos , Levodopa/efeitos adversos , Doença de Parkinson/tratamento farmacológico , Carbidopa/efeitos adversos , Fatores de Tempo , Aprendizagem , Antiparkinsonianos/efeitos adversos
3.
J Neural Transm (Vienna) ; 130(10): 1249-1257, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37526768

RESUMO

Non-motor symptoms (NMS) and Non-motor fluctuations (NMF) in Parkinson's Disease (PD) are common, involving several domains and affecting quality of life. Aim of the study is to estimate the burden of NMF in PD patients and to evaluate the possible gender effect. PD patients fulfilling the MDS-PD diagnostic criteria attending the "Parkinson's Disease and Movement Disorders Centre" of the University of Catania were evaluated using the Non-Motor Fluctuations Assessment (NoMoFA) Questionnaire. NoMoFA items were also grouped into the following domains: cognitive, mood, sleep/fatigue, dysautonomia, hallucination/perception and miscellaneous domains were identified. One-hundred and twenty-one patients with PD (67 men, 55.4%; mean age 70.2 ± 8.9 years, disease duration 8.3 ± 4.6 years) were evaluated. All PD patients reported at least one NMS, whereas 87 (71.9%) also reported NMF. "Feel sluggish or had low energy levels" (47.2%) along with "Feel excessively sleepy during the day" (40.0%) were the most common NMF reported in the whole sample. The majority of PD patients reported the presence of NMF during the OFF state (79, 65.3%). At multivariate analysis, NMF were positively associated with the female gender (adjusted OR 3.13; 95%CI 1.21-8.11 p-value 0.01). Women with PD had higher NMF scores especially in depression/anxiety, sleep/fatigue and dysautonomia domains. Our study reported the presence of a gender-related pattern in the frequency of NMS and NMF in PD patients, with female gender associated with a higher risk of developing NMF, highlighting the need for personalized treatment strategies when addressing NMF.


Assuntos
Doença de Parkinson , Disautonomias Primárias , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Doença de Parkinson/diagnóstico , Qualidade de Vida , Fatores Sexuais , Disautonomias Primárias/complicações , Fadiga/complicações
4.
Eur J Neurol ; 30(9): 2849-2853, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37265410

RESUMO

BACKGROUND AND PURPOSE: Easy and reliable tools for the differential diagnosis between idiopathic normal pressure hydrocephalus (iNPH) and Alzheimer's disease (AD) are needed. MATERIALS AND METHODS: In this cross-sectional study iNPH and AD patients referred to the Neurology Unit of the University of Catania from 1 January 2020 to 1 December 2022 were enrolled. The following brain linear measurements (BLMs) were calculated: Evan's index (EI), the parieto-occipital ratio (POR) and the temporal ratio (TR). For each index, sensitivity, specificity and the area under the curve (AUC) were calculated. Moreover, a cumulative index, the BLM index, was also considered. RESULTS: Fifty patients (25 iNPH and 25 AD) were enrolled. In differentiating iNPH from AD, EI had the highest AUC (0.956), POR had the highest specificity (100%) whilst TR had the highest sensitivity (92%). The BLM index differentiated iNPH and AD with a sensitivity of 96%, a specificity of 92% and an AUC of 0.963 with an optimal cut-off value of 0.303. CONCLUSION: Evan's index, POR and TR may be useful in the differential diagnosis between iNPH and AD. At an individual level, the BLM index represents a valid and reliable tool to achieve an accurate differentiation between these two conditions.


Assuntos
Doença de Alzheimer , Hidrocefalia de Pressão Normal , Humanos , Doença de Alzheimer/complicações , Doença de Alzheimer/diagnóstico , Hidrocefalia de Pressão Normal/diagnóstico , Estudos Transversais , Encéfalo , Diagnóstico Diferencial
5.
J Neural Transm (Vienna) ; 129(12): 1427-1433, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36308548

RESUMO

Differential diagnosis between Parkinson's disease (PD) and corticobasal syndrome (CBS) could be challenging at the early stage, due to the asymmetric onset of both diseases. Despite the clinical overlap, the anatomical circuits involved in these disorders are different. We evaluated R2 Blink Reflex Recovery Cycle (R2BRRC) and cortical thickness (CTh) in drug-naïve PD and CBS patients for characterizing pathophysiological mechanisms underlying these conditions. Patients with a clinically probable diagnosis of PD and possible CBS were recruited. R2BRRC was evaluated bilaterally at interstimulus intervals (ISIs) of 100-150-200-300-400-500-750 ms. Asymmetry index (AI) of R2BRRC for each ISI was computed. Patients underwent a structural brain MRI and hemisphere CTh and AI of MRI was calculated. Fourteen drug-naïve PD patients and 10 patients with early CBS diagnosis were enrolled. R2BRRC of PD patients showed an increased brainstem excitability for less affected side (LAS) stimulation at ISIs of 100 and 150 ms (p < 0.001) compared to most affected side (MAS), whereas no differences between LAS and MAS were found in CBS. AI of R2BRRC at ISI-100 ms showed significant difference, being higher in PD. CTh analysis showed significant differences between groups in hemisphere cortical volume contralateral to MAS, and, conversely, AI of MRI was significantly higher in CBS. PD patients exhibited an asymmetric pattern of brainstem excitability, compared to CBS. Conversely, CBS patients showed an asymmetric pattern of cortical atrophy. This opposite pattern of neurophysiological and structural abnormalities involving cortical and subcortical brain structures could highlight the different pathophysiological mechanisms underlying these disorders.


Assuntos
Degeneração Corticobasal , Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico por imagem , Piscadela , Imageamento por Ressonância Magnética , Diagnóstico Precoce
6.
J Neural Transm (Vienna) ; 129(3): 287-293, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35024950

RESUMO

The association between dyslipidemia and cognitive performance in Parkinson's disease (PD) patients still needs to be clarified. Aim of the study was to evaluate the presence of possible associations between serum lipids fractions and executive dysfunction also exploring the sex-specific contribute of lipids level on cognition. Patients from the PACOS cohort, who underwent a complete serum lipid profile measures (total cholesterol-TC, low-density lipoprotein cholesterol-LDL, high-density lipoprotein cholesterol-HDL and triglycerides-TG) were selected. Adult Treatment Panel III guidelines of the National Cholesterol Education Program were used to classify normal/abnormal lipid fractions. Executive functioning was assessed with the Frontal Assessment Battery (FAB). Logistic regression was performed to assess associations between lipids fractions and FAB score. Correlations between lipids fractions and FAB score were explored. Sex-stratified analysis was performed. Three hundred and forty-eight PD patients (148 women; age 66.5 ± 9.5 years; disease duration 3.9 ± 4.9 years) were enrolled. Women presented significantly higher TC, LDL and HDL than men. In the whole sample, any association between lipid profile measures and FAB score was found. Among women, a positive association between hypertriglyceridemia and FAB score under cutoff was found (OR 3.4; 95%CI 1.29-9.03; p value 0.013). A statistically significant negative correlation was found between the FAB score and triglyceride serum levels (r = - 0.226; p value 0.005). Differently, among men, a statistically significant negative association between hypercholesterolemia and FAB score under cutoff (OR 0.4; 95%CI 0.17-0.84; p value 0.018) and between high LDL levels and FAB score under cutoff (OR 0.4; 95%CI 0.18-0.90; p value 0.027) were found. Our data suggest a sex-specific different role of lipids in executive functioning.


Assuntos
Doença de Parkinson , Adulto , Idoso , HDL-Colesterol , LDL-Colesterol , Feminino , Humanos , Lipídeos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Triglicerídeos
7.
Eur J Neurol ; 29(11): 3197-3204, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35790057

RESUMO

BACKGROUND AND PURPOSE: Parkinson's disease (PD) patients with cognitive impairment undergo progressive atrophy of several cortical and subcortical areas. The aim was to study the magnetic resonance imaging (MRI) morphometric features of PD patients with mild cognitive impairment (MCI). METHODS: Patients from the Parkinson's Disease Cognitive Impairment Study (PACOS) cohort with an available structural volumetric brain MRI and morphometric measurements of the midbrain and pons areas, middle cerebellar peduncle, superior cerebellar peduncle width and midbrain anteroposterior diameter (A-Pdiam) were included. MCI was diagnosed according to the Movement Disorder Society level II criteria. Additionally, cortical thickness analysis was performed and correlated with morphometric brainstem measurements. RESULTS: Morphometric measurements were available for 168 subjects, of whom 67 (39.9%) were diagnosed with PD-MCI. The mean age (± standard deviation) of the sample was 64.2 ± 9.8. Amongst patients, 84 (50%) were men with a disease duration of 5.2 ± 5.4 years and a Unified Parkinson's Disease Rating Scale-Motor Examination score of 32.1 ± 12.9. In the univariate and multivariate analysis, after adjusting for age, sex, years of schooling and disease duration, MCI was associated with midbrain area (odds ratio 0.98; 95% confidence interval 0.96-0.99; p = 0.048) and A-Pdiam (odds ratio 0.63; 95% confidence interval 0.46-0.86; p = 0.005). Furthermore, 121 PD patients underwent cortical thickness analysis, which showed the presence of cortical thinning in lateral orbitofrontal regions of patients with PD-MCI. No correlation was found between cortical thickness and brainstem morphometric measurements. CONCLUSIONS: A mild midbrain atrophy and the presence of frontal cortical thickness reduction might be considered a structural MRI feature of PD patients with MCI.


Assuntos
Disfunção Cognitiva , Doença de Parkinson , Atrofia/patologia , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/patologia , Disfunção Cognitiva/complicações , Disfunção Cognitiva/etiologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/patologia
8.
Neurol Sci ; 43(9): 5201-5205, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35648268

RESUMO

BACKGROUND: Association between parkinsonism and idiopathic normal pressure hydrocephalus (iNPH) still remains debated. There is already plenty of evidences in the literature suggesting that this clinical sign can be considered as an integral part of the clinical spectrum of iNPH patients. METHODS: We reviewed the possible pitfalls in the core clinical definition of iNPH based on available international diagnostic criteria, phenomenology of parkinsonism in iNPH, and neuroimaging supporting the presence of parkinsonism in iNPH. CONCLUSIONS: We argue that the diagnostic definition of the iNPH "triad" should be possibly reconsidered as a "tetrad" also including parkinsonism.


Assuntos
Hidrocefalia de Pressão Normal , Transtornos Parkinsonianos , Humanos , Hidrocefalia de Pressão Normal/complicações , Hidrocefalia de Pressão Normal/diagnóstico por imagem , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/diagnóstico por imagem
9.
Sensors (Basel) ; 22(19)2022 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-36236223

RESUMO

Assistive Technology helps to assess the daily living and safety of frail people, with particular regards to the detection and prevention of falls. In this paper, a comparison is provided among different strategies to analyze postural sway, with the aim of detecting unstable postural status in standing condition as precursors of potential falls. Three approaches are considered: (i) a time-based features threshold algorithm, (ii) a time-based features Neuro-Fuzzy inference system, and (iii) a Neuro-Fuzzy inference fed by Discrete-Wavelet-Transform-based features. The analysis was performed across a wide dataset and exploited performance indexes aimed at assessing the accuracy and the reliability of predictions provided by the above-mentioned strategies. The results obtained demonstrate valuable performances of the three considered strategies in correctly distinguishing among stable and unstable postural status. However, the analysis of robustness against noisy data highlights better performance of Neuro-Fuzzy inference systems with respect to the threshold-based algorithm.


Assuntos
Algoritmos , Análise de Ondaletas , Humanos , Equilíbrio Postural , Reprodutibilidade dos Testes
10.
Cerebellum ; 20(4): 596-605, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33619652

RESUMO

We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disorder of glycosylation. Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years) underwent a standardized assessment to measure ADL, ataxia (brief ataxia rating scale, BARS) and phenotype severity (Nijmegen CDG rating scale, NCRS). MRI biometry of the cerebellum and the brainstem were performed in 23 patients (11 males; aged 5 months-18 years) and 19 control subjects with equal gender and age distributions. The average total ADL score was 15.3 ± 8.5 (range 3-32 out of 36 indicating severe functional disability), representing variable functional outcome in PMM2-CDG patients. Total ADL scores were significantly correlated with NCRS (r2 = 0.55, p < 0.001) and BARS scores (r2 = 0.764; p < 0.001). Severe intellectual disability, peripheral neuropathy, and severe PMM2 variants were all significantly associated with worse functional outcome. Higher ADL scores were significantly associated with decreased diameters of cerebellar vermis (r2 = 0.347; p = 0.004), hemispheres (r2 = 0.436; p = 0.005), and brainstem, particularly the mid-pons (r2 = 0.64; p < 0.001) representing the major radiological predictor of functional disability score in multivariate regression analysis. We show that cerebellar syndrome severity, cognitive level, peripheral neuropathy, and genotype correlate with ADL used to quantify disease-related deficits in PMM2-CDG. Brainstem involvement should be regarded among functional outcome predictors in patients with cerebellar atrophy caused by PMM2-CDG.


Assuntos
Atividades Cotidianas , Doenças Cerebelares , Mutação , Fosfotransferases (Fosfomutases) , Atrofia , Defeitos Congênitos da Glicosilação , Humanos , Masculino , Fosfotransferases (Fosfomutases)/deficiência , Fosfotransferases (Fosfomutases)/genética
11.
Neurol Sci ; 42(9): 3723-3731, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33447925

RESUMO

INTRODUCTION: Mild cognitive impairment (MCI) is common in Parkinson's disease (PD), but the underlying pathological mechanism has not been fully understood. Voxel-based morphometry could be used to evaluate regional atrophy and its relationship with cognitive performances in early PD-MCI. PATIENTS AND METHODS: One hundred and six patients with PD were recruited from a larger cohort of patients, the Parkinson's Disease Cognitive Impairment Study (PaCoS). Subject underwent a T1-3D MRI and a complete clinical and neuropsychological evaluation. Patients were divided into PD with normal cognition (PD-NC) and PD-MCI according to the MDS level II criteria-modified for PD-MCI. A subgroup of early patients with short disease duration (≤ 2 years) was also identified. VBM analysis between PD-NC and PD-MCI and between early PD-NC and PD-MCI was performed using two-sample t tests with whole-brain statistical threshold of p < 0.001 uncorrected in the entire PD group and p < 0.05 FWE inside ROIs, in the early PD. RESULTS: Forty patients were diagnosed with MCI and 66 were PD-NC. PD-MCI patients showed significant gray matter (GM) reduction in several brain regions, including frontal gyrus, precuneus, angular gyrus, temporal lobe, and cerebellum. Early PD-MCI showed reduction in GM density in superior frontal gyrus and cerebellum. Moreover, correlation analysis between neuropsychological performances and GM volume of early PD-MCI patients showed associations between performances of Raven and superior frontal gyrus volume, Stroop time and inferior frontal gyrus volume, accuracy of Barrage and volume of precuneus. CONCLUSION: The detection of frontal and cerebellar atrophy, even at an early stage, could be used as an early marker of PD-related cognitive impairment.


Assuntos
Disfunção Cognitiva , Doença de Parkinson , Encéfalo/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/etiologia , Substância Cinzenta/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Testes Neuropsicológicos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico por imagem
12.
Cell Mol Neurobiol ; 40(4): 531-546, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31691877

RESUMO

Neurodegenerative diseases (NDs) are age-dependent; among them, Alzheimer's disease (AD) and Parkinson's disease (PD) are the most frequent. Similarly, cerebrovascular damage can induce the development of vascular-related disorders that share common features with AD and PD, respectively, named vascular dementia (VD) and vascular parkinsonism (VP). To date, ND diagnosis is mainly clinical; therefore, since these disorders show similar symptoms, their correct discrimination may be difficult. We detected 23 ND-associated microRNAs (miRNAs) by literature mining and investigated their serum expression in a cohort of 139 patients including AD, PD, VD, and VP patients and healthy controls. TaqMan RT-PCR data showed that miR-23a upregulation was associated with an ongoing neurodegenerative process, similar to miR-22* and miR-29a, while let-7d, miR-15b, miR-24, miR-142-3p, miR-181c, and miR-222 showed an altered expression in Parkinson-like phenotypes, as well as miR-34b, miR-125b, and miR-130b in Alzheimer-like disorders. By computing logistic regression models and ROC curves, we identified signatures of neuro-miRNAs specific for each disease, showing good diagnostic performance. Interestingly, we found that miR-23a, miR-29a, miR-34b, and miR-125b exhibited a different distribution between exosomes and vesicle-free serum, suggesting a heterogeneity of secretion for these miRNAs. Our results suggest that miRNA signatures could discriminate in a non-invasive manner neurodegenerative disorders, thus improving clinical diagnoses.


Assuntos
Biomarcadores/sangue , Perfilação da Expressão Gênica , MicroRNAs/sangue , Doenças Neurodegenerativas/sangue , Doenças Neurodegenerativas/diagnóstico , Doenças Vasculares/sangue , Doenças Vasculares/diagnóstico , Idoso , Doença de Alzheimer/sangue , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Estudos de Casos e Controles , Demência Vascular/sangue , Demência Vascular/diagnóstico , Demência Vascular/genética , Diagnóstico Diferencial , Exossomos/metabolismo , Feminino , Regulação da Expressão Gênica , Humanos , Modelos Logísticos , Masculino , MicroRNAs/genética , Análise Multivariada , Doenças Neurodegenerativas/genética , Doença de Parkinson/sangue , Doença de Parkinson/diagnóstico , Doença de Parkinson/genética , Curva ROC , Reprodutibilidade dos Testes , Doenças Vasculares/genética
13.
Neurol Sci ; 41(12): 3769-3773, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32734397

RESUMO

OBJECTIVES: This study aims to evaluate the base-peak difference in levodopa response for detecting patients with motor fluctuations in Parkinson's disease (PD). METHODS: Two independent PD samples were evaluated at baseline and 2 h after the administration of the usual morning dose of levodopa using the Unified Parkinson's Disease Rating Scale part III (UPDRS-III). The presence of motor fluctuations was defined by the UPDRS-IV. We quantified the magnitude of motor variation as absolute (Δ) and percentage (Δ%) change in UPDRS-III scores. Optimal cut-offs for each index distinguishing patients with or without fluctuations were calculated on the exploratory population. The accuracy of the identified cut-offs was then verified in a testing population. RESULTS: In the exploratory population (N = 26), the optimal cut-off for detecting fluctuations was a Δ of 6 points and a Δ% of 18.4%. When we applied the identified thresholds to the testing population (N = 139), we found a sensitivity of 93.8% (95% CI: 89.7 to 97.8) and a specificity of 91.2% (95% CI: 86.5 to 95.9) for Δ, 83.3% (95% CI: 77.1 to 89.5) and 86.8% (95% CI: 81.2 to 92.4) for Δ%, respectively. CONCLUSIONS: The assessment of levodopa usual morning dose response through the base-peak evaluation represents an accurate method for detecting parkinsonian patients with motor fluctuations, and for defining the Minimal Important Difference (MID) in levodopa response suggesting the presence of motor fluctuations in PD patients demanding further therapeutic interventions.


Assuntos
Levodopa , Doença de Parkinson , Antiparkinsonianos/uso terapêutico , Humanos , Levodopa/uso terapêutico , Testes de Estado Mental e Demência , Doença de Parkinson/diagnóstico , Doença de Parkinson/tratamento farmacológico
14.
J Neural Transm (Vienna) ; 126(2): 167-172, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30506462

RESUMO

In Parkinson's disease (PD), the identification of instrumental biomarkers is crucial to evaluate disease susceptibility and motor stage. We evaluated self-similarity of electrocortical activity as expression of brain signal complexity in untreated PD, to investigate its possible role as a neurophysiological biomarker. We analyzed the data of 34 untreated PD subjects and 18 group-matched controls who underwent standardized electroencephalography. A Welch's periodogram was applied to site-specific electroencephalographic signal epochs. To investigate self-similarity of electrocortical activity, the power law exponent ß was computed for each selected coordinate. In both PD subjects and controls, ß values at each coordinate increased with an antero-posterior gradient, changing from values around one in fronto-temporal sites to values around two among parieto-occipital sites. PD subjects presented overall lower ß values among different sites compared to controls, with significant differences for the left fronto-temporal sites. Our findings suggest an increased level of fronto-temporal neuronal organization in untreated PD. We hypothesize a possible role of ß as a neurophysiological biomarker for early untreated PD.


Assuntos
Córtex Cerebral/fisiopatologia , Eletroencefalografia/métodos , Doença de Parkinson/fisiopatologia , Idoso , Biomarcadores , Humanos , Pessoa de Meia-Idade
15.
Neurol Sci ; 40(11): 2265, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31444730

RESUMO

The article "Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features, written by Giulia Donzuso, Giovanni Mostile, Alessandra Nicoletti, and Mario Zappia", was originally published electronically on the publisher's internet portal (currently SpringerLink).

16.
Neurol Sci ; 40(11): 2251-2263, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31267306

RESUMO

Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with bilateral basal ganglia calcifications (which could occur in other peculiar brain structures, such as dentate nuclei) identifies a clinical picture defined as Fahr's Disease. This denomination mainly refers to idiopathic forms in which no metabolic or other underlying causes are identified. Recently, mutations in four different genes (SLC20A2, PDGFRB, PDGFB, and XPR1) were identified, together with novel mutations in the Myogenic Regulating Glycosylase gene, causing the occurrence of movement disorders, cognitive decline, and psychiatric symptoms. On the other hand, secondary forms, also identified as Fahr's syndrome, have been associated with different conditions: endocrine abnormalities of PTH, such as hypoparathyroidism, other genetically determined conditions, brain infections, or toxic exposure. The underlying pathophysiology seems to be related to an abnormal calcium/phosphorus homeostasis and transportation and alteration of the blood-brain barrier.


Assuntos
Doenças Autoimunes do Sistema Nervoso , Doenças dos Gânglios da Base , Calcinose , Síndrome de Cockayne , Hipoparatireoidismo , Vasculite Associada ao Lúpus do Sistema Nervoso Central , Doenças Mitocondriais , Malformações do Sistema Nervoso , Doenças Neurodegenerativas , Síndromes Neurotóxicas , Pseudo-Hipoparatireoidismo , Doenças dos Gânglios da Base/genética , Doenças dos Gânglios da Base/metabolismo , Doenças dos Gânglios da Base/patologia , Doenças dos Gânglios da Base/fisiopatologia , Calcinose/genética , Calcinose/metabolismo , Calcinose/patologia , Calcinose/fisiopatologia , Humanos , Doenças Neurodegenerativas/genética , Doenças Neurodegenerativas/metabolismo , Doenças Neurodegenerativas/patologia , Doenças Neurodegenerativas/fisiopatologia , Receptor do Retrovírus Politrópico e Xenotrópico
17.
Neurol Sci ; 40(6): 1271-1273, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30737581

RESUMO

BACKGROUND: In a precedent paper, we validated part IV of the Unified Parkinson's Disease Rating Scale (UPDRS) for detecting motor fluctuations in Parkinson's Disease (PD) patients using a 12-h Waking-Day Motor Assessment (WDMA) as gold standard, showing a high sensitivity (> 80%) and a lower specificity (< 45%). The aim of this study was to validate the Movement Disorder Society-UPDRS (MDS-UPDRS) part IV, especially items 4.3 and 4.5, using the same methodology. METHODS: PD patients attending the Movement Disorders Clinic at the University Hospital in Catania were consecutively enrolled in the study. A diurnal WDMA was performed to detect motor fluctuations. At each time interval, the motor impairment was evaluated using the motor section of the MDS-UPDRS. Presence or absence of motor fluctuations and the type of motor fluctuation were assessed by four blinded expert raters in movement disorders, by evaluating the graphical representations of the WDMA. We evaluated sensitivity and specificity together with 95% Confidence Interval (CI) of items 4.3 and 4.5, using WDMA as gold standard. RESULTS: We estimated for item 4.3 of the MDS-UPDRS a sensitivity of 74.3% (95% CI 56.7-87.5) and a specificity of 70.6% (95% CI 44-89.7), while for item 4.5, a sensitivity of 67.9% (95% CI 47.6-84.1) and a specificity of 66.7% (95% CI 44.7-84.4). CONCLUSIONS: The present showed a higher specificity level for MDS-UPDRS with respect to the UPDRS, while a slightly lower sensitivity mainly for predictable OFF.


Assuntos
Testes de Estado Mental e Demência/normas , Doença de Parkinson/diagnóstico , Adulto , Humanos , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Método Simples-Cego
19.
Neurol Sci ; 39(2): 341-345, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29330628

RESUMO

Neostigmine test (NT) is a pharmacological test, demonstrating a clinical improvement in patients affected by myasthenia gravis (MG). We aim to compare clinical evaluation and neurophysiological recordings by concentric-needle single-fiber electromyography (CN-SFEMG) in response to acute administration of neostigmine in ocular and generalized MG patients. Twenty-three MG patients (10 with ocular MG and 13 with generalized MG) were evaluated before and after 90 min neostigmine 0.5-mg administration. Clinical responsiveness was assessed by MG composite (MGC) scale. Neurophysiological evaluation by CN-SFEMG considered analysis of mean value of consecutive differences (MCD), single-pair jitter, and blocks. MGC scores significantly improved after NT in generalized MG patients (MGC 11.1 ± 7.6 vs 9.1 ± 6.7, p = 0.02), whereas the improvement was not significant in the ocular group. CN-SFEMG recordings significantly improved after NT in generalized MG patients (MCD 58.9 ± 18.8 vs 45.9 ± 23.2 µs, p = 0.003; single-pair jitter 49.8 ± 26.9 vs 24.1 ± 26.7%, p = 0.0001; blocks 6.2 ± 9.5 vs 2.6 ± 7.4%, p = 0.03) as well as in ocular MG patients (MCD 50.8 ± 22.7 vs 40.1 ± 22.9 µs, p = 0.01; single-pair jitter 35.9 ± 23.7 vs 20.0 ± 25.1%, p = 0.001). CN-SFEMG is a reliable tool to evaluate responsiveness to acute administration of neostigmine in MG. Moreover, neurophysiological modifications to NT could show subclinical improvement in ocular MG better than that of the clinical scale.


Assuntos
Inibidores da Colinesterase/uso terapêutico , Miastenia Gravis/tratamento farmacológico , Neostigmina/uso terapêutico , Fibras Nervosas/efeitos dos fármacos , Resultado do Tratamento , Adulto , Idoso , Sequência de Bases/genética , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/diagnóstico por imagem , Miotonina Proteína Quinase/genética , Neuroimagem , Adulto Jovem
20.
J Neural Transm (Vienna) ; 124(12): 1539-1546, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29018993

RESUMO

The timed up and go test (TUG) is a widely used clinical test for the evaluation of balance and mobility. An instrumented version of TUG (iTUG) has been proposed to provide quantitative information on TUG performances. Here, we hypothesized that L-dopa may differently influence gait parameters recorded by a portable inertial sensor. To test this idea, we evaluated iTUG test in patients with Parkinson's disease (PD), both in L-dopa OFF and ON state. Twenty-eight PD patients performed the iTUG. Subjects were instructed to perform the task both in practical "OFF" and "ON" state. The system differentiated the test in six phases, recording phase durations, three-axial accelerations, average and peak angular speeds during turning. In all patients, sit-to-stand vertical and medio-lateral accelerations together with turning phase duration and angular speeds improved after L-dopa administration, while sit-to-stand and stand-to-sit phases antero-posterior accelerations were less responsive. In PD, L-dopa modulates iTUG in different ways, mostly improving the turning phases and less acting on postural controls during the sit-to-stand and stand-to-sit phases. Our results suggest different involvement of dopaminergic mechanisms on gait as assessed by iTUG. This is important for those aspects which are not improved by pharmacological therapy.


Assuntos
Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/etiologia , Movimento/fisiologia , Doença de Parkinson/complicações , Equilíbrio Postural/fisiologia , Idoso , Antiparkinsonianos/uso terapêutico , Feminino , Transtornos Neurológicos da Marcha/tratamento farmacológico , Humanos , Levodopa/uso terapêutico , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/tratamento farmacológico , Índice de Gravidade de Doença
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