17 results on '"Sara Baldinelli"'
Search Results
2. Sleep actigraphic patterns and cognitive status
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Laura Buratti, Roberta Camilletti, Alessandra Pulcini, Chiara Rocchi, Giovanna Viticchi, Lorenzo Falsetti, Sara Baldinelli, Chiara Fiori, and Mauro Silvestrini
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sleep ,actigraphy ,cognitive impairment ,dementia ,apnea ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
We performed an actigraphic assessment of sleep characteristics in healthy subjects and patients with cognitive impairment. Thirty subjects were included and classified into controls (10 subjects), mild cognitive impairment (10 patients) and mild-to-moderate Alzheimer’s disease (10 patients). Sleep quality was assessed using the Pittsburgh Sleep Quality Index. Participants had a 7-day actigraphic record. Sleep parameters collected were time in bed, total sleep time, sleep efficiency, sleep latency, wakefulness after sleep onset, number of awakenings, and mean motor activity. Significant differences between mild cognitive impairment and controls patients were found for sleep latency (p = 0.05); Alzheimer’s disease patients had significantly worse scores for Pittsburgh Sleep Quality Index (p = 0.01), time in bed (p = 0.001), total sleep time (p = 0.04), sleep latency, sleep efficiency, motor activity (p = 0.0001) and wakefulness after sleep onset (p = 0.001) compared to controls. When comparing Alzheimer’s disease and mild cognitive impairment, differences were significant for sleep latency (p = 0.01), wakefulness after sleep onset (p = 0.004), sleep efficiency, number of awakenings and motor activity (p = 0.0001). In addition to showing a high prevalence of sleep alterations in subjects with cognitive impairment, our data suggest that they are evident from the earliest stages of cognitive decline. Further studies are needed to assess whether early correction of sleep alterations can positively influence the evolution of cognitive impairment. The opportunity to provide clinically meaningful information with a simple assessment of sleep characteristics based on actigraphy suggests that wider use of the approach in patients with cognitive decline should be considered.
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- 2021
- Full Text
- View/download PDF
3. Cerebrospinal Fluid α-Calcitonin Gene-Related Peptide: A Comparison between Alzheimer’s Disease and Multiple Sclerosis
- Author
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Giulio Papiri, Arianna Vignini, Luigi Capriotti, Paola Verdenelli, Sonila Alia, Alice Di Paolo, Chiara Fiori, Sara Baldinelli, Mauro Silvestrini, and Simona Luzzi
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α-CGRP ,Alzheimer’s disease ,multiple sclerosis ,neuropsychology ,biomarkers ,cognitive impairment ,Microbiology ,QR1-502 - Abstract
Alzheimer’s disease (AD) and Multiple Sclerosis (MS) represent an emerging health problem on a global scale, as they are responsible for a significant contribution to the burden of disability in Western countries. Limited numbers of cerebrospinal fluid (CSF) diagnostic markers are available for each disease (amyloid and tau deposition markers for AD and oligoclonal bands for MS) representing mostly state markers that provide few, if any, clues about the severity of the clinical phenotype. α-CGRP is a neuropeptide implied in nociception, vasodilation, synaptic plasticity and immune functions. This neuropeptide is expressed in encephalic regions connected to memory, attention, autonomic and behavioral functions and is also expressed by spinal motor neurons. The present work confronted α-CGRP levels between 19 AD, 27 MS and 17 control subjects using an ELISA/EIA assay. We measured higher CSF α-CGRP contents in control subjects with respect to AD, as shown in previous studies, as well as in MS patients in comparison to AD. The control subjects and MS patients did not significantly differ between each other. We did not observe a relationship between CSF protein content, albumin quotient and α-CGRP. We also describe, retrospectively, an association between higher CSF CGRP content and higher MRI overall lesion count in MS and between lower α-CGRP and worse attention and visuo-perceptual skills in AD. We speculate that α-CGRP could be differentially involved in both disabling diseases.
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- 2022
- Full Text
- View/download PDF
4. Auto-GO: Reproducible, Robust and High Quality Ontology Enrichment Visualizations.
- Author
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Isabella Grassucci, Alice Massacci, Eleonora Sperandio, Sara Baldinelli, Matteo Pallocca, Fabio Ticconi, and Martina Betti
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- 2023
- Full Text
- View/download PDF
5. Allochiria for spatial landmarks as the presenting feature of posterior cortical atrophy
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Simona Luzzi, Chiara Fiori, Valentina Ranaldi, Sara Baldinelli, Veronica Cherubini, Mauro Morelli, Mauro Silvestrini, and Julie S. Snowden
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Neuropsychology and Physiological Psychology ,Cognitive Neuroscience ,Experimental and Cognitive Psychology - Published
- 2022
6. Sleep actigraphic patterns and cognitive status
- Author
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Chiara Rocchi, Giovanna Viticchi, Roberta Camilletti, Laura Buratti, Chiara Fiori, Lorenzo Falsetti, Sara Baldinelli, Alessandra Pulcini, and Mauro Silvestrini
- Subjects
Male ,Sleep Wake Disorders ,medicine.medical_specialty ,Neurosciences. Biological psychiatry. Neuropsychiatry ,Audiology ,Pittsburgh Sleep Quality Index ,Alzheimer Disease ,medicine ,Dementia ,Humans ,Cognitive Dysfunction ,Cognitive decline ,sleep ,Aged ,cognitive impairment ,business.industry ,General Neuroscience ,Apnea ,Actigraphy ,General Medicine ,apnea ,medicine.disease ,Sleep in non-human animals ,Sleep Quality ,Wakefulness ,Female ,medicine.symptom ,Sleep onset ,business ,actigraphy ,dementia ,RC321-571 - Abstract
We performed an actigraphic assessment of sleep characteristics in healthy subjects and patients with cognitive impairment. Thirty subjects were included and classified into controls (10 subjects), mild cognitive impairment (10 patients) and mild-to-moderate Alzheimer’s disease (10 patients). Sleep quality was assessed using the Pittsburgh Sleep Quality Index. Participants had a 7-day actigraphic record. Sleep parameters collected were time in bed, total sleep time, sleep efficiency, sleep latency, wakefulness after sleep onset, number of awakenings, and mean motor activity. Significant differences between mild cognitive impairment and controls patients were found for sleep latency (p = 0.05); Alzheimer’s disease patients had significantly worse scores for Pittsburgh Sleep Quality Index (p = 0.01), time in bed (p = 0.001), total sleep time (p = 0.04), sleep latency, sleep efficiency, motor activity (p = 0.0001) and wakefulness after sleep onset (p = 0.001) compared to controls. When comparing Alzheimer’s disease and mild cognitive impairment, differences were significant for sleep latency (p = 0.01), wakefulness after sleep onset (p = 0.004), sleep efficiency, number of awakenings and motor activity (p = 0.0001). In addition to showing a high prevalence of sleep alterations in subjects with cognitive impairment, our data suggest that they are evident from the earliest stages of cognitive decline. Further studies are needed to assess whether early correction of sleep alterations can positively influence the evolution of cognitive impairment. The opportunity to provide clinically meaningful information with a simple assessment of sleep characteristics based on actigraphy suggests that wider use of the approach in patients with cognitive decline should be considered.
- Published
- 2021
7. Insight in frontotemporal dementia and progressive supranuclear palsy
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Emanuele Camerucci, Valentina Ranaldi, Mauro Silvestrini, Andrea Plutino, Chiara Fiori, Simona Luzzi, and Sara Baldinelli
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Pediatrics ,medicine.medical_specialty ,Neurology ,Dermatology ,Logistic regression ,Progressive supranuclear palsy ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,mental disorders ,medicine ,Humans ,Dementia ,030212 general & internal medicine ,Retrospective Studies ,Neuroradiology ,Receiver operating characteristic ,business.industry ,Neuropsychology ,General Medicine ,medicine.disease ,eye diseases ,Psychiatry and Mental health ,Frontotemporal Dementia ,Supranuclear Palsy, Progressive ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Frontotemporal dementia - Abstract
Progressive supranuclear palsy (PSP) and behavioural variant frontotemporal dementia – (bv-FTD) share common neuropsychological features except for online monitoring awareness. Therefore, the aim of our study is to explore if this assessment could be used in standard clinical practice. We retrospectively analyse 93 subjects (27 FTD, 25 PSP, 42 healthy controls). Neuropsychological and instrumental examinations were performed for each patient. FTD patients made fewer self-corrections than PSP patients despite a similar number of total errors. We also performed ROC curves: the area under the curve (AUC) is 0.79. A model for a logistic regression was also developed: the only significant predictor is the number of self-corrections (p = 0.004 β = 1244). In conclusion, our findings show online awareness is more compromised in FTD patients than in PSP patients. This difference could be useful for making a differential diagnosis between the two diseases: for each extra point in number of self-corrections the probability of suffering from PSP increases by about three and a half times (OR 3.47).
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- 2020
8. Cerebrospinal Fluid α-Calcitonin Gene-Related Peptide: A Comparison between Alzheimer's Disease and Multiple Sclerosis
- Author
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Giulio Papiri, Arianna Vignini, Luigi Capriotti, Paola Verdenelli, Sonila Alia, Alice Di Paolo, Chiara Fiori, Sara Baldinelli, Mauro Silvestrini, and Simona Luzzi
- Subjects
α-CGRP ,Alzheimer’s disease ,multiple sclerosis ,neuropsychology ,biomarkers ,cognitive impairment ,Amyloid beta-Peptides ,Multiple Sclerosis ,Alzheimer Disease ,Calcitonin Gene-Related Peptide ,Humans ,tau Proteins ,Molecular Biology ,Biochemistry ,Biomarkers ,Peptide Fragments ,Retrospective Studies - Abstract
Alzheimer’s disease (AD) and Multiple Sclerosis (MS) represent an emerging health problem on a global scale, as they are responsible for a significant contribution to the burden of disability in Western countries. Limited numbers of cerebrospinal fluid (CSF) diagnostic markers are available for each disease (amyloid and tau deposition markers for AD and oligoclonal bands for MS) representing mostly state markers that provide few, if any, clues about the severity of the clinical phenotype. α-CGRP is a neuropeptide implied in nociception, vasodilation, synaptic plasticity and immune functions. This neuropeptide is expressed in encephalic regions connected to memory, attention, autonomic and behavioral functions and is also expressed by spinal motor neurons. The present work confronted α-CGRP levels between 19 AD, 27 MS and 17 control subjects using an ELISA/EIA assay. We measured higher CSF α-CGRP contents in control subjects with respect to AD, as shown in previous studies, as well as in MS patients in comparison to AD. The control subjects and MS patients did not significantly differ between each other. We did not observe a relationship between CSF protein content, albumin quotient and α-CGRP. We also describe, retrospectively, an association between higher CSF CGRP content and higher MRI overall lesion count in MS and between lower α-CGRP and worse attention and visuo-perceptual skills in AD. We speculate that α-CGRP could be differentially involved in both disabling diseases.
- Published
- 2021
9. Association between homocysteine levels and cognitive profile in Alzheimer's Disease
- Author
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Mauro Silvestrini, Giovanna Viticchi, Giulio Papiri, Chiara Fiori, Sara Baldinelli, Simona Luzzi, and Alessio Toraldo
- Subjects
Hyperhomocysteinemia ,medicine.medical_specialty ,business.industry ,Neuropsychology ,Cognition ,General Medicine ,Audiology ,Neuropsychological Tests ,medicine.disease ,Atrophy ,Cross-Sectional Studies ,Neurology ,Neuroimaging ,Alzheimer Disease ,Physiology (medical) ,medicine ,Humans ,Surgery ,Neurology (clinical) ,Verbal memory ,Risk factor ,Association (psychology) ,business ,Homocysteine - Abstract
Background Growing evidence suggests that hyperhomocysteinemia (HHcy) constitutes a risk factor for Alzheimer’s Disease (AD). The impact of HHcy on cognitive functions has mainly been investigated using screening neuropsychological tests that provide general, unspecific measures of cognitive level. Since an association between HHcy and temporo-mesial atrophy has been documented, we predicted that a fine-grained analysis of neuropsychological performance should show stronger Hcy effects on memory scores than on other cognitive scores. Objective To determine the influence of Hcy level on cognitive profile evaluated with specific, sensitive neuropsychological tests in a wide AD cohort. Methods 323 patients with AD were enrolled in a cross-sectional study and underwent a neuropsychological examination exploring several cognitive domains (memory, language, visuoperception, visuospatial abilities, executive function, constructional praxis, ideomotor praxis). The effects of Hcy levels and other risk factors (including cholesterol, smoking habits, triglycerides, apoEe4 allele) were analysed. Results Generalized Linear Model detected a significant drop in performance with increasing Hcy in 6/19 measures of cognitive functions, namely, in memory performance tasks as well as in Luria’s motor planning test, with effect sizes ranging 1.4%–2.8% (Eta-squared), partialling out effects of other predictors. Conclusions HHcy was associated with poor performance in short and long-term spatial and verbal memory more than with other cognitive dysfunctions. These results support the hypothesis that medial temporal networks might be vulnerable to HHcy, consistently with data from neuroimaging studies suggesting a link in AD between temporal atrophy and HHcy; the effect on Luria’s motor planning task suggests further involvement of frontal structures.
- Published
- 2021
10. The management of epilepsy in clinical practice: Do the needs manifested by the patients correspond to the priorities of the caring physicians? Findings from the EPINEEDS Study
- Author
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Giorgia Giussani, Gabriele Enia, Elisa Bianchi, Oriano Mecarelli, Ettore Beghi, Patrizia Pulitano, Claudia Cagnetti, Sara Baldinelli, Simona Lattanzi, Angela La Neve, Maria Tappatà, Teresa Francavilla, Giovanni De Maria, Vito Sofia, Loretta Giuliano, Greta Mainieri, Daniela Fatuzzo, Vincenzo Belcastro, Maurizio Elia, Giuseppe D'Orsi, Alessandra Lalla, Andrea Salmaggi, Francesco Brigo, Adriana Magaudda, Francesco Pisani, Santi Galletta, Laura R. Pisani, Massimo Raffaele, Domenico Cosenza, Flavio S. Villani, Rui M.M. Quintas, Rosa Cervellione, Simona Borroni, Stefano Meletti, Carlo Ferrarese, Giuseppina Barbella, Jacopo Di Francesco, Graziella Bogliun, Simone Beretta, Carlo A. Galimberti, Teresa A. Cantisani, Michela Cecconi, Maria G. Celani, Rossella Papetti, Filippo S. Giorgi, Umberto Aguglia, Sara Gasparini, Edoardo Ferlazzo, Paolo Manganotti, Giovanni Crichiutti, Giulia Bravar, Giussani, G., Enia, G., Bianchi, E., Mecarelli, O., Beghi, E., Pulitano, P., Cagnetti, C., Baldinelli, S., La Neve, A., Tappata, M., Francavilla, T., De Maria, G., Sofia, V., Giuliano, L., Mainieri, G., Fatuzzo, D., Belcastro, V., Elia, M., D'Orsi, G., Lalla, A., Salmaggi, A., Brigo, F., Magaudda, A., Pisani, F., Galletta, S., Pisani, L. R., Raffaele, M., Cosenza, D., Villani, F. S., Quintas, R. M. M., Cervellione, R., Borroni, S., Meletti, S., Ferrarese, C., Barbella, G., Di Francesco, J., Bogliun, G., Beretta, S., Galimberti, C. A., Cantisani, T. A., Cecconi, M., Celani, M. G., Papetti, R., Giorgi, F. S., Aguglia, U., Gasparini, S., Ferlazzo, E., Manganotti, P., Crichiutti, G., Bravar, G., Giussani, G, Enia, G, Bianchi, E, Mecarelli, O, Beghi, E, Pulitano, P, Cagnetti, C, Baldinelli, S, La Neve, A, Tappata, M, Francavilla, T, De Maria, G, Sofia, V, Giuliano, L, Mainieri, G, Fatuzzo, D, Belcastro, V, Elia, M, D'Orsi, G, Lalla, A, Salmaggi, A, Brigo, F, Magaudda, A, Pisani, F, Galletta, S, Pisani, L, Raffaele, M, Cosenza, D, Villani, F, Quintas, R, Cervellione, R, Borroni, S, Meletti, S, Ferrarese, C, Barbella, G, Di Francesco, J, Bogliun, G, Beretta, S, Galimberti, C, Cantisani, T, Cecconi, M, Celani, M, Papetti, R, Giorgi, F, Aguglia, U, Gasparini, S, Ferlazzo, E, Manganotti, P, Crichiutti, G, and Bravar, G
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Activities of daily living ,Adolescent ,Patients ,Concordance ,Satisfaction ,Need ,Disease ,03 medical and health sciences ,Behavioral Neuroscience ,Psychiatric comorbidity ,Epilepsy ,Young Adult ,0302 clinical medicine ,Genetic etiology ,Seizures ,Physicians ,Surveys and Questionnaires ,Medicine ,Humans ,Epilepsy Needs ,030212 general & internal medicine ,Aged ,Aged, 80 and over ,Health Services Needs and Demand ,Physician-Patient Relations ,business.industry ,Prioritie ,Communication ,Needs ,Priorities ,Disease Management ,Middle Aged ,medicine.disease ,Clinical Practice ,Cross-Sectional Studies ,Neurology ,Italy ,Socioeconomic Factors ,Etiology ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Purpose The purpose of this study was to assess the priorities of patients with epilepsy and caring physicians and the correspondence between these priorities. Methods In this multicenter cross-sectional study, patients with epilepsy attending 21 Italian epilepsy centers and their caring physicians filled anonymously questionnaires on the needs and priorities in the management of the disease. Included were questions on patients' demographics, diagnosis, treatment, and outcome of epilepsy. The concordance between patients and their physicians was assessed on various aspects of the diagnosis and care of the disease. Patients' satisfaction with communication, services, and patient–doctor relationship was also assessed. Results Included were 432 women and 355 men aged 15 to 88 years (median: 41 years). Disease duration ranged from 6 months to 75 years. A structural/metabolic etiology predominated (52.7%), followed by a (presumed) genetic etiology (33.0%). Seizure remission was present in 56.5% of cases. Comorbidities requiring chronic treatment were present in 27.5%, and comorbidities affecting self-sufficiency in 9.5%. Psychiatric comorbidity was present in 35.0%. Patients' priorities included discovery of the cause (89.1%), use of right drug (98.7%), use of a drug without chronic side effects (94.0%), and a life without restrictions (90.4%). Physicians' priorities included choice of right drug (83.5%) and use of drugs without chronic side effects (86.8%). Priorities varied with patients' age, sex, education, and occupation. Patient–doctor relationships were at least good in most cases. The information imparted was considered unsatisfactory by 21–44% of cases on seizure circumstances and complications, side effects of drugs, limitations of daily activities, and management of physiologic or pathologic conditions. Patients declared overall satisfaction, except for appointments (21.5%) and emergencies (30.8%). Conclusion Patients and physicians' priorities in the management of epilepsy overlap only in part. Patients are satisfied with their caring physicians and less satisfied with communication and management of routine and emergency problems.
- Published
- 2020
11. Famous faces and voices: Differential profiles in early right and left semantic dementia and in Alzheimer's disease
- Author
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Fabio M. Fringuelli, Leandro Provinciali, Simona Luzzi, Katia Fabi, Sara Baldinelli, Guido Gainotti, Mauro Silvestrini, Carlo Reverberi, Valentina Ranaldi, Viviana Cafazzo, Luzzi, S, Baldinelli, S, Ranaldi, V, Fabi, K, Cafazzo, V, Fringuelli, F, Silvestrini, M, Provinciali, L, Reverberi, C, and Gainotti, G
- Subjects
Famous faces ,Male ,Neuropsychological Tests ,Audiology ,Functional Laterality ,Behavioral Neuroscience ,Discrimination, Psychological ,0302 clinical medicine ,Famous voice ,Discrimination ,Psychology ,media_common ,05 social sciences ,Semantic dementia ,Brain ,Cognition ,Alzheimer's disease ,Settore MED/26 - NEUROLOGIA ,Frontotemporal Dementia ,Speech Perception ,Radiopharmaceutical ,Female ,Neuropsychological Test ,Facial Recognition ,Human ,Cognitive psychology ,Frontotemporal dementia ,medicine.medical_specialty ,Speech perception ,Famous voices ,Cognitive Neuroscience ,media_common.quotation_subject ,Experimental and Cognitive Psychology ,Recognition (Psychology) ,Cognitive neuroscience ,050105 experimental psychology ,Association ,03 medical and health sciences ,Right temporal lobe atrophy ,Alzheimer Disease ,Fluorodeoxyglucose F18 ,Perception ,medicine ,Humans ,Famous face ,0501 psychology and cognitive sciences ,Set (psychology) ,Aged ,Discrimination (Psychology) ,Recognition, Psychology ,medicine.disease ,Recognition ,Positron-Emission Tomography ,Psychological ,Radiopharmaceuticals ,Atrophy ,030217 neurology & neurosurgery - Abstract
Background Famous face and voice recognition is reported to be impaired both in semantic dementia (SD) and in Alzheimer's Disease (AD), although more severely in the former. In AD a coexistence of perceptual impairment in face and voice processing has also been reported and this could contribute to the altered performance in complex semantic tasks. On the other hand, in SD both face and voice recognition disorders could be related to the prevalence of atrophy in the right temporal lobe (RTL). Objective The aim of the present study was twofold: (1) to investigate famous faces and voices recognition in SD and AD to verify if the two diseases show a differential pattern of impairment, resulting from disruption of different cognitive mechanisms; (2) to check if face and voice recognition disorders prevail in patients with atrophy mainly affecting the RTL. Materials To avoid the potential influence of primary perceptual problems in face and voice recognition, a pool of patients suffering from early SD and AD were administered a detailed set of tests exploring face and voice perception. Thirteen SD (8 with prevalence of right and 5 with prevalence of left temporal atrophy) and 25 CE patients, who did not show visual and auditory perceptual impairment, were finally selected and were administered an experimental battery exploring famous face and voice recognition and naming. Twelve SD patients underwent cerebral PET imaging and were classified in right and left SD according to the onset modality and to the prevalent decrease in FDG uptake in right or left temporal lobe respectively. Correlation of PET imaging and famous face and voice recognition was performed. Results Results showed a differential performance profile in the two diseases, because AD patients were significantly impaired in the naming tests, but showed preserved recognition, whereas SD patients were profoundly impaired both in naming and in recognition of famous faces and voices. Furthermore, face and voice recognition disorders prevailed in SD patients with RTL atrophy, who also showed a conceptual impairment on the Pyramids and Palm Trees test more important in the pictorial than in the verbal modality. Finally, in 12SD patients in whom PET was available, a strong correlation between FDG uptake and face-to-name and voice-to-name matching data was found in the right but not in the left temporal lobe. Discussion The data support the hypothesis of a different cognitive basis for impairment of face and voice recognition in the two dementias and suggest that the pattern of impairment in SD may be due to a loss of semantic representations, while a defect of semantic control, with impaired naming and preserved recognition might be hypothesized in AD. Furthermore, the correlation between face and voice recognition disorders and RTL damage are consistent with the hypothesis assuming that in the RTL person-specific knowledge may be mainly based upon non-verbal representations.
- Published
- 2017
12. Inter-rater reliability of primitive signs in dementia
- Author
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Andrea Plutino, Mauro Silvestrini, Valentina Ranaldi, Chiara Fiori, Simona Luzzi, and Sara Baldinelli
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Primitive reflexes ,Adult ,Male ,Reflex, Stretch ,medicine.medical_specialty ,Audiology ,Neuropsychological Tests ,Palmomental reflex ,03 medical and health sciences ,0302 clinical medicine ,Snout reflex ,Reflex ,medicine ,Humans ,Aged ,Aged, 80 and over ,Neurologic Examination ,Observer Variation ,Hand Strength ,Reflex, Abnormal ,business.industry ,Masseter Muscle ,Reproducibility of Results ,General Medicine ,Grasp reflex ,Middle Aged ,Glabella ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Educational Status ,Surgery ,Dementia ,Female ,Neurology (clinical) ,Snout ,business ,030217 neurology & neurosurgery ,Jaw jerk reflex - Abstract
Objectives The aim of the present study is to explore inter-rater reliability of primitive signs in a group of patients assessed for dementia. Patients and methods 97 patients admitted to our University Hospital for cognitive impairment were enrolled in the study. The mean age was 73.04 ± 8.68 (53 females and 44 males). All patients were examined by two cognitive neurologists in a blind fashion. The grasp reflex, the snout reflex, the glabella tap reflex and the palmomental reflex were elicited according to the current literature. Moreover, we add a stretch reflexes (the masseter reflex) to our battery. Results The most frequent primitive reflex was the palmomental reflex followed by the glabella tap, snout, and grasp. The inter-rater reliability was measured for each primitive reflex: grasp reflex (0.884) have a strong correspondence; the glabella tap (0.556), the palmomental (0.516) and the snout reflex (0.445) have otherwise a weak correspondence. The masseter reflex reaches a moderate agreement (0.662). All the measurements reached statistical significance (p Conclusion The results of the study show weak to substantial agreement for primitive signs and the masseter reflex as expressed by the low-to-high kappa values.
- Published
- 2019
13. Semantic Corticobasal Dementia
- Author
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Fabio M. Fringuelli, Giorgio Ascoli, Mauro Silvestrini, Simona Luzzi, Leandro Provinciali, Viviana Cafazzo, David G. Mann, Stuart Pickering-Brown, Katia Fabi, Sara Baldinelli, David Neary, Carlo Reverberi, Julie S. Snowden, Luzzi, S, Fabi, K, Cafazzo, V, Fringuelli, F, Reverberi, F, Baldinelli, S, Silvestrini, M, Provinciali, L, Ascoli, G, Pickering Brown, S, Mann, D, Neary, D, and Snowden, J
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Nosology ,Psychoanalysis ,semantic dementia, corticobasal syndrome, fronto-temporal dementia, apraxia ,MEDLINE ,Degeneration (medical) ,M-PSI/02 - PSICOBIOLOGIA E PSICOLOGIA FISIOLOGICA ,medicine.disease ,Temporal Lobe ,Psychiatry and Mental health ,Clinical Psychology ,Frontotemporal Dementia ,medicine ,Humans ,Dementia ,Female ,Frontotemporal Lobar Degeneration ,Geriatrics and Gerontology ,M-PSI/01 - PSICOLOGIA GENERALE ,Psychology ,Gerontology ,Aged - Abstract
Luzzi, Simona Fabi, Katia Cafazzo, Viviana Fringuelli, Fabio M Reverberi, Carlo Baldinelli, Sara Silvestrini, Mauro Provinciali, Leandro Ascoli, Giorgio Pickering-Brown, Stuart Mann, David Neary, David Snowden, Julie S 089701/Wellcome Trust/United Kingdom G0701441/Medical Research Council/United Kingdom Alzheimer Dis Assoc Disord. 2015 Oct-Dec;29(4):360-3. doi: 10.1097/WAD.0000000000000064.
- Published
- 2015
14. Selective associative phonagnosia after right anterior temporal stroke
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Guido Gainotti, Mauro Silvestrini, Gabriella Ceravolo, Leandro Provinciali, Fabio M. Fringuelli, Carlo Reverberi, Gabriele Polonara, Simona Luzzi, Michela Coccia, Sara Baldinelli, Luzzi, S, Coccia, M, Polonara, G, Reverberi, F, Ceravolo, G, Silvestrini, M, Fringuelli, F, Baldinelli, S, Provinciali, L, and Gainotti, G
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Male ,medicine.medical_specialty ,Cognitive Neuroscience ,Image Processing ,Experimental and Cognitive Psychology ,Audiology ,Neuropsychological Tests ,050105 experimental psychology ,Functional Laterality ,Temporal lobe ,03 medical and health sciences ,Behavioral Neuroscience ,0302 clinical medicine ,Computer-Assisted ,Neuroimaging ,Face perception ,Fluorodeoxyglucose F18 ,medicine ,Image Processing, Computer-Assisted ,Semantic memory ,Right temporal pole ,Humans ,Psychology ,0501 psychology and cognitive sciences ,Associative phonagnosia ,Lenticular nucleus ,05 social sciences ,Phonagnosia ,Neuropsychology ,Recognition, Psychology ,Middle Aged ,Executive functions ,medicine.disease ,Magnetic Resonance Imaging ,Temporal Lobe ,Stroke ,Recognition ,Settore MED/26 - NEUROLOGIA ,Positron-Emission Tomography ,Agnosia ,Caudate Nucleus ,Famous voice recognition ,030217 neurology & neurosurgery ,Cognitive psychology - Abstract
We report the case of a 48 year old men who developed a selective impairment in famous voice recognition after ischemic stroke in right subcortical structures (lenticular nucleus and head of the caudate) and right anterior temporal lobe. He underwent fibrinolytic treatment. During the following days he progressively recovered and was discharged without neurological focal sign. Patent foramen ovale was found. When he got back to his house he noticed that he was unable to recognize the voice of his favoured singers and needed to ask who was the singer to his relatives. Neuropsychological examination revealed a selective impairment in famous voice recognition in the absence of alteration of voice perception, face perception and famous face recognition. All other neuropsychological domains were spared. In particular language, memory and executive functions were intact. Neuroimaging carried out by means of PET and MRI revealed two small ischemic lesions in the right subcortical region, involving lenticular and caudate nuclei and in the right temporal pole. To our knowledge, this is the first case described in literature of a patient showing a selective associative phonagnosia after right anterior temporal stroke. The present case helps to clarify the brain circuits underlying famous voice recognition and adds evidence in favour of a right hemisphere involvement in processing knowledge of familiar voices. These findings are discussed in relation to current models of brain organization of person-specific and general semantic knowledge.
- Published
- 2018
15. Sleep Apnea, Cognitive Profile, and Vascular Changes: An Intriguing Relationship
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Giovanna Viticchi, Leandro Provinciali, Laura Buratti, Cristina Petrelli, Lorenzo Falsetti, Simona Luzzi, Alessandra Pulcini, Mauro Silvestrini, Sara Baldinelli, Buratti, L, Viticchi, G, Baldinelli, S, Falsetti, L, Luzzi, S, Pulcini, A, Petrelli, C, Provinciali, L, and Silvestrini, M.
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Male ,medicine.medical_specialty ,Sleep Apnea ,Polysomnography ,Hemodynamics ,Neuropsychological Tests ,Severity of Illness Index ,Breath Holding ,03 medical and health sciences ,0302 clinical medicine ,Cognition ,Internal medicine ,Severity of illness ,Vascular Disease ,medicine ,Humans ,030212 general & internal medicine ,Aged ,Sleep Apnea, Obstructive ,medicine.diagnostic_test ,business.industry ,General Neuroscience ,Neuropsychology ,Sleep apnea ,General Medicine ,Middle Aged ,medicine.disease ,Obstructive sleep apnea ,Psychiatry and Mental health ,Clinical Psychology ,Cognitive Profile ,Treatment Outcome ,Cerebrovascular Haemodynamic ,Cerebrovascular Disease ,Cerebrovascular Circulation ,Multivariate Analysis ,Cardiology ,Linear Models ,Female ,Geriatrics and Gerontology ,Verbal memory ,business ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
BACKGROUND: Sleep breathing disorders can affect cognitive performances through complex brain anatomical and functional changes. OBJECTIVE: Our aim was to evaluate the correlations between cognitive performances and obstructive sleep apnea syndrome (OSAS), as well as the possible influence of vascular factors. METHODS: Thirty-four non-demented OSAS patients and 34 controls were submitted to a neuropsychological evaluation and to a vascular screening including the study of cerebrovascular reactivity by means of the breath-holding index (BHI) calculation. After 6 months, polisomnographic, neuropsychologic, and hemodynamics assessment was repeated in patients. RESULTS: At baseline, some cognitive performances involved in executive and memory functions were significantly lower in patients with respect to controls. Significantly lower values in mean BHI were also detected in patients with respect to controls (p
- Published
- 2017
16. Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation
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Mauro Silvestrini, Francesca Girelli, Stuart Pickering-Brown, Julie S. Snowden, Valentina Ranaldi, Sara Rollinson, Sara Baldinelli, Valentina Cameriere, Chiara Fiori, Simona Luzzi, David M. A. Mann, and Leandro Provinciali
- Subjects
0301 basic medicine ,Dystonia ,medicine.medical_specialty ,Cousin ,Neurogenetics ,medicine.disease ,Apraxia ,03 medical and health sciences ,Psychiatry and Mental health ,030104 developmental biology ,0302 clinical medicine ,C9orf72 ,Aphasia ,medicine ,Dementia ,Surgery ,Neurology (clinical) ,medicine.symptom ,Psychiatry ,Psychology ,030217 neurology & neurosurgery ,Frontotemporal dementia - Abstract
The commonest genetic cause of frontotemporal dementia (FTD) is a hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9ORF72).1 ,2 The clinical presentation is heterogeneous.3 Patients with C9ORF72 expansions may exhibit behavioural variant FTD (bvFTD) with or without motor neuron disease, psychosis and non-fluent aphasia, and, more rarely, parkinsonian syndromes such as corticobasal syndrome (CBS). We describe an Italian family carrying the C9ORF72 mutation in which prototypical features of FTD were, unusually, combined with an isolated left hand dystonia occurring in the absence of extrapyramidal signs or apraxia. The family was native to a small village in the Marche region of Italy. To preserve anonymity, family members are referred to by the abbreviation (AN) of the province (Ancona) where they were examined. Eight family members had dementia (see figure 1 for genealogical tree). Figure 1 AN family pedigree. Four family members were available for assessment: two sisters with FTD (AN1 and AN2), and a healthy brother (AN3) and cousin (AN4). AN6 and AN7 were reported to have died after a 6–10-year history of dementia beginning with behavioural problems/psychosis. AN8, AN9 and AN10 were also said to suffer from dementia, although no details were available. ### Patient AN1 AN1, a 59-year-old right-handed woman, a native Italian housewife, presented with a 2-year history of behavioural problems. Early …
- Published
- 2015
17. Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration
- Author
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Giorgio Giaccone, Sara Baldinelli, Francesca Girelli, Chiara Fiori, Giacomina Rossi, Fabrizio Tagliavini, Simona Luzzi, Mauro Silvestrini, Paola Caroppo, Lara Colleoni, and Paola Corbetta
- Subjects
Male ,0301 basic medicine ,Aging ,RNA Splicing ,Mutation, Missense ,Disease ,Biology ,Protein degradation ,03 medical and health sciences ,Progranulins ,0302 clinical medicine ,mental disorders ,medicine ,Humans ,Missense mutation ,Gene ,Genetic Association Studies ,Aged ,Genetics ,General Neuroscience ,Frontotemporal lobar degeneration ,Middle Aged ,medicine.disease ,Major gene ,Pedigree ,030104 developmental biology ,RNA splicing ,Intercellular Signaling Peptides and Proteins ,Female ,Neurology (clinical) ,Frontotemporal Lobar Degeneration ,Geriatrics and Gerontology ,Haploinsufficiency ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
Gene coding for progranulin, GRN, is a major gene linked to frontotemporal lobar degeneration. While most of pathogenic GRN mutations are null mutations leading to haploinsufficiency, GRN missense mutations do not have an obvious pathogenicity, and only a few have been revealed to act through different pathogenetic mechanisms, such as cytoplasmic missorting, protein degradation, and abnormal cleavage by elastase. The aim of this study was to disclose the pathogenetic mechanisms of the GRN A199V missense mutation, which was previously reported not to alter physiological progranulin features but was associated with a reduced plasma progranulin level. After investigating the family pedigree, we performed genetic and biochemical analysis on its members and performed RNA expression studies. We found that the mutation segregates with the disease and discovered that its pathogenic feature is the alteration of GRN mRNA splicing, actually leading to haploinsufficiency. Thus, when facing with a missense GRN mutation, its pathogenetic effects should be investigated, especially if associated with low plasma progranulin levels, to determine its nature of either benign polymorphism or pathogenic mutation.
- Published
- 2017
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