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3. Clinical validity of the Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB) in Mild Cognitive Impairment and Alzheimer’s Disease

Author

Conca, Francesca, Esposito, Valentina, Catricalà, Eleonora, Manenti, Rosa, L’Abbate, Federica, Quaranta, Davide, Giuffrè, Guido Maria, Rossetto, Federica, Solca, Federica, Orso, Beatrice, Inguscio, Emanuela, Crepaldi, Valeria, De Matteis, Maddalena, Rotondo, Emanuela, Manera, Marina, Caruso, Giulia, Catania, Valentina, Canu, Elisa, Rundo, Francesco, Cotta Ramusino, Matteo, Filippi, Massimo, Fundarò, Cira, Piras, Federica, Arighi, Andrea, Tiraboschi, Pietro, Stanzani Maserati, Michelangelo, Pardini, Matteo, Poletti, Barbara, Silani, Vincenzo, Marra, Camillo, Di Tella, Sonia, Cotelli, Maria, Lodi, Raffaele, Tagliavini, Fabrizio, and Cappa, Stefano Francesco

Published
2024
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5. Correction: Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I‑UDSNB 1.0): development and normative data

Author

Conca, Francesca, Esposito, Valentina, Rundo, Francesco, Quaranta, Davide, Muscio, Cristina, Manenti, Rosa, Caruso, Giulia, Lucca, Ugo, Galbussera, Alessia Antonella, Di Tella, Sonia, Baglio, Francesca, L’Abbate, Federica, Canu, Elisa, Catania, Valentina, Filippi, Massimo, Mattavelli, Giulia, Poletti, Barbara, Silani, Vincenzo, Lodi, Raffaele, De Matteis, Maddalena, Maserati, Michelangelo Stanzani, Arighi, Andrea, Rotondo, Emanuela, Tanzilli, Antonio, Pace, Andrea, Garramone, Federica, Cavaliere, Carlo, Pardini, Matteo, Rizzetto, Cristiano, Sorbi, Sandro, Perri, Roberta, Tiraboschi, Pietro, Canessa, Nicola, Cotelli, Maria, Ferri, Raffaele, Weintraub, Sandra, Marra, Camillo, Tagliavini, Fabrizio, Catricalà, Eleonora, and Cappa, Stefano Francesco

Published
2023
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11. Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB 1.0): development and normative data

Author

Conca, Francesca, Esposito, Valentina, Rundo, Francesco, Quaranta, Davide, Muscio, Cristina, Manenti, Rosa, Caruso, Giulia, Lucca, Ugo, Galbussera, Alessia Antonella, Di Tella, Sonia, Baglio, Francesca, L’Abbate, Federica, Canu, Elisa, Catania, Valentina, Filippi, Massimo, Mattavelli, Giulia, Poletti, Barbara, Silani, Vincenzo, Lodi, Raffaele, De Matteis, Maddalena, Stanzani Maserati, Michelangelo, Arighi, Andrea, Rotondo, Emanuela, Tanzilli, Antonio, Pace, Andrea, Garramone, Federica, Cavaliere, Carlo, Pardini, Matteo, Rizzetto, Cristiano, Sorbi, Sandro, Perri, Roberta, Tiraboschi, Pietro, Canessa, Nicola, Cotelli, Maria, Ferri, Raffaele, Weintraub, Sandra, Marra, Camillo, Tagliavini, Fabrizio, Catricalà, Eleonora, and Cappa, Stefano Francesco

Published
2022
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12. The Contribution of Cognitive Control Networks in Word Selection Processing in Parkinson's Disease: Novel Insights from a Functional Connectivity Study.

Author

Di Tella, Sonia, De Marco, Matteo, Anzuino, Isabella, Quaranta, Davide, Baglio, Francesca, and Silveri, Maria Caterina

Subjects
DEFAULT mode network, PREFRONTAL cortex, INDEPENDENT component analysis, EXECUTIVE function, PARKINSON'S disease
Abstract

Parkinson's disease (PD) patients are impaired in word production when the word has to be selected among competing alternatives requiring higher attentional resources. In PD, word selection processes are correlated with the structural integrity of the inferior frontal gyrus, which is critical for response selection, and the uncinate fasciculus, which is necessary for processing lexical information. In early PD, we investigated the role of the main cognitive large-scale networks, namely the salience network (SN), the central executive networks (CENs), and the default mode network (DMN), in word selection. Eighteen PD patients and sixteen healthy controls were required to derive nouns from verbs or generate verbs from nouns. Participants also underwent a resting-state functional MRI. Functional connectivity (FC) was examined using independent component analysis. Functional seeds for the SN, CENs, and DMN were defined as spheres, centered at the local activation maximum. Correlations were calculated between the FC of each functional seed and word production. A significant association between SN connectivity and task performance and, with less evidence, between CEN connectivity and the task requiring selection among a larger number of competitors, emerged in the PD group. These findings suggest the involvement of the SN and CEN in word selection in early PD, supporting the hypothesis of impaired executive control. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Associations Between Free and Cued Selective Reminding Test and Cerebrospinal Fluid Biomarkers in Amnestic Mild Cognitive Impairment.

Author

Giuffrè, Guido Maria, Quaranta, Davide, Citro, Salvatore, Morganti, Tommaso Giuseppe, Martellacci, Noemi, Vita, Maria Gabriella, Rossini, Paolo Maria, Calabresi, Paolo, and Marra, Camillo

Subjects
*AMNESTIC mild cognitive impairment, *CEREBROSPINAL fluid, *MILD cognitive impairment, *EPISODIC memory, *BIOMARKERS, *MEMORY disorders, *VERBAL memory
Abstract

Background: The Free and Cued Selective Reminding Test (FCSRT), assessing verbal episodic memory with controlled learning and semantic cueing, has been recommended for detecting the genuine encoding and storage deficits characterizing AD-related memory disorders. Objective: The present study aims at investigating the ability of FCSRT in predicting cerebrospinal fluid (CSF) evidence of amyloid-β positivity in subjects with amnestic mild cognitive impairment (aMCI) and exploring its associations with amyloidopathy, tauopathy and neurodegeneration biomarkers. Methods: 120 aMCI subjects underwent comprehensive neurological and neuropsychological examinations, including the FCSRT assessment, and CSF collection; CSF Aβ42/40 ratio, p-tau181, and total-tau quantification were conducted by an automated CLEIA method on Lumipulse G1200. Based on the Aβ42/40 ratio value, subjects were classified as either A+ or A–. Results: All FCSRT subitem scores were significantly lower in A+ group and significantly predicted the amyloid-β status, with Immediate Total Recall (ITR) being the best predictor. No significant correlations were found between FCSRT and CSF biomarkers in the A– aMCI group, while in the A+ aMCI group, all FCSRT subitem scores were negatively correlated with CSF p-tau181 and total-tau, but not with the Aβ42/40 ratio. Conclusions: FCSRT confirms its validity as a tool for the diagnosis of AD, being able to predict the presence of amyloid-β deposition with high specificity. The associations between FCSRT subitem scores and CSF p-tau-181 and total-tau levels in aMCI due to AD could further encourage the clinical use of this simple and cost-effective test in the evaluation of individuals with aMCI. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Medical Information Extraction with NLP-Powered QABots: a Real-World Scenario

Author

Crema, Claudio, primary, Verde, Federico, additional, Tiraboschi, Pietro, additional, Marra, Camillo, additional, Arighi, Andrea, additional, Fostinelli, Silvia, additional, Giuffré, Guido Maria, additional, Maschio, Vera Pacoova Dal, additional, L'abbate, Federica, additional, Solca, Federica, additional, Poletti, Barbara, additional, Silani, Vincenzo, additional, Rotondo, Emanuela, additional, Borracci, Vittoria, additional, Vimercati, Roberto, additional, Crepaldi, Valeria, additional, Inguscio, Emanuela, additional, Filippi, Massimo, additional, Caso, Francesca, additional, Rosati, Alessandra Maria, additional, Quaranta, Davide, additional, Binetti, Giuliano, additional, Pagnoni, Ilaria, additional, Morreale, Manuela, additional, Burgio, Francesca, additional, Maserati, Michelangelo Stanzani, additional, Capellari, Sabina, additional, Pardini, Matteo, additional, Girtler, Nicola, additional, Piras, Federica, additional, Piras, Fabrizio, additional, Lalli, Stefania, additional, Perdixi, Elena, additional, Lombardi, Gemma, additional, Tella, Sonia Di, additional, Costa, Alfredo, additional, Capelli, Marco, additional, Fundarò, Cira, additional, Manera, Marina, additional, Muscio, Cristina, additional, Pellencin, Elisa, additional, Lodi, Raffaele, additional, Tagliavini, Fabrizio, additional, and Redolfi, Alberto, additional

Published
2023
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23. Self-assessment of empathy uncovers defective self-awareness in mild cognitive impairment

Author

Quaranta, Davide, Cerami, Chiara, Caraglia, Naike, Costantini, Emanuele Maria, Di Tella, Sonia, Silveri, Maria Caterina, Cappa, Stefano Francesco, Gaudino, Simona, Marra, Camillo, Dodich, Alessandra, Di Tella, Sonia (ORCID:0000-0002-2248-5120), Silveri, Maria Caterina (ORCID:0000-0001-5012-0682), Cappa, Stefano, Gaudino, Simona (ORCID:0000-0003-1681-4343), Marra, Camillo (ORCID:0000-0003-3994-4044), Quaranta, Davide, Cerami, Chiara, Caraglia, Naike, Costantini, Emanuele Maria, Di Tella, Sonia, Silveri, Maria Caterina, Cappa, Stefano Francesco, Gaudino, Simona, Marra, Camillo, Dodich, Alessandra, Di Tella, Sonia (ORCID:0000-0002-2248-5120), Silveri, Maria Caterina (ORCID:0000-0001-5012-0682), Cappa, Stefano, Gaudino, Simona (ORCID:0000-0003-1681-4343), and Marra, Camillo (ORCID:0000-0003-3994-4044)

Abstract

Objective: Self-assessment scales are broadly used to evaluate empathy in neurological patients, but it is conceivable that some discrepancy with caregiver evaluation may emerge as consequence of reduced self-awareness. The aim of the present study was to verify the presence of discrepancies in the self-assessment of empathy in subjects with mild cognitive impairment (MCI) and to explore their neural correlates. Method: Twenty MCI patients and 38 healthy controls (HCs) underwent the Interpersonal Reactivity Index (IRI), exploring the following four aspects of empathy: perspective taking (PT), fantasy, empathic concern, and personal distress. The questionnaire was administered in two modalities: self-administered, and administered to an informant, and the scores were compared. The correlation between discrepancies and regional cortical thickness was assessed. Results: The self-administered version of IRI showed higher PT scores in MCI as compared to HC (p = .017), with no differences detected in the other subscales. The difference between the scores obtained in the self-administered and in the informant-administered IRI-PT was significantly higher in MCI than in HCs (p = .006). Conclusion: The self-assessment of empathy in subjects with MCI may be misleading because of a tendency toward an overestimation of the PT ability, typically considered as a cognitive component of empathy. Our results may reflect a particular aspect of reduced self-awareness in MCI subjects. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Published
2023

25. Basal ganglia ischaemic infarction after thrombectomy: cognitive impairment at acute stage

Author

Guglielmi, Valeria, Quaranta, Davide, Masone Iacobucci, Giovanna, Citro, Salvatore, Scala, Irene, Genovese, Danilo, Brunetti, Valerio, Marra, Camillo, Calabresi, Paolo, Della Marca, Giacomo, Marra, Camillo (ORCID:0000-0003-3994-4044), Calabresi, Paolo (ORCID:0000-0003-0326-5509), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Guglielmi, Valeria, Quaranta, Davide, Masone Iacobucci, Giovanna, Citro, Salvatore, Scala, Irene, Genovese, Danilo, Brunetti, Valerio, Marra, Camillo, Calabresi, Paolo, Della Marca, Giacomo, Marra, Camillo (ORCID:0000-0003-3994-4044), Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Della Marca, Giacomo (ORCID:0000-0001-6914-799X)

Abstract

Background and purpose: After successful mechanical thrombectomy for middle cerebral artery occlusion, basal ganglia infarction is commonly detectable. Whilst the functional outcome of these patients is often good, less knowledge is available about the cognitive outcome. The aim of our study was to assess the presence of cognitive impairment within 1 week after thrombectomy.Methods: In all, 43 subjects underwent a general cognitive assessment using the Montreal Cognitive Assessment and an extensive battery of tests. Patients were classified as cognitively impaired (CImp) or not (noCImp) according to a Montreal Cognitive Assessment score below 18.Results: Cognitively impaired and noCImp subjects did not differ either in their National Institutes of Health Stroke Scale (NIHSS) and modified Rankin Scale (mRS) at admittance, or in their Fazekas score and Alberta Stroke Program Early Computed Tomography Score. At discharge, CImp subjects showed higher scores than noCImp subjects on NIHSS (p = 0.002) and mRS (p < 0.001). The percentage of pathological performances on each neuropsychological test in the whole sample and in CImp and noCImp patients shows a similar cognitive profile between the groups.Conclusions: Some patients who underwent thrombectomy experienced a detectable cognitive impairment that probably led to worse NIHSS and mRS. The neuropsychological profile of such cognitive impairment at the acute stage consists of wide deficits in numerous cognitive domains, suggesting that basal ganglia damage may lead to complex functional impairments.

Published
2023

26. Neuropsychological predictors of conversion from mild cognitive impairment to dementia at different timepoints

Author

Quaranta, Davide, Caraglia, Naike, L'Abbate, Federica, Giuffrè, Guido Maria, Guglielmi, Valeria, Iacobucci, Giovanna Masone, Rossini, Paolo Maria, Calabresi, Paolo, Marra, Camillo, Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), Marra, Camillo (ORCID:0000-0003-3994-4044), Quaranta, Davide, Caraglia, Naike, L'Abbate, Federica, Giuffrè, Guido Maria, Guglielmi, Valeria, Iacobucci, Giovanna Masone, Rossini, Paolo Maria, Calabresi, Paolo, Marra, Camillo, Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Calabresi, Paolo (ORCID:0000-0003-0326-5509), and Marra, Camillo (ORCID:0000-0003-3994-4044)

Abstract

Introduction: Impairment of episodic memory is largely considered the main cognitive marker of prodromic Alzheimer's disease (AD). Nevertheless, the neuropathological process in AD starts several years before and, apart from biomarkers well defined in the Amyloid (A), Tauopathy (T), Neurodegeneration (N) framework, early clinical and neuropsychological markers able to detect mild cognitive impairment (MCI) due to AD before the appearance of memory disorders are lacking in clinical practice. Investigations on semantic memory have shown promising results in providing an earlier marker of dementia in MCI patients. Methods: A total of 253 MCI subjects were followed up every 6 months for 6 years-186 converted to dementia and 67 remained stable at the sixth year of follow-up. Twenty-seven patients progressed in the first 2 years (fast converters), 107 in the third to fourth year (intermediate converters), and 51 after the fourth year of follow-up (slow converters). Results: Stable MCI subjects performed better than fast decliners in Mini-Mental State Examination (MMSE), several long-term memory scores, and category verbal fluency test (CFT); stable and intermediate converters differ only in MMSE and CFT tests; and stable and slow converters differ only in MMSE and phonological/semantic discrepancy score. Conclusion: Early impairment of semantic memory could predict the evolution to AD before the onset of episodic memory disorders, and the discrepancy between phonological and semantic verbal fluency could be able to detect this impairment in advance in respect of simple CFT tests. The assessment of different aspects of semantic memory and its degradation could represent an early cognitive marker to intercept MCI due to AD in clinical practice.

Published
2023

31. Selective Impairment of Living Things and Musical Instruments on a Verbal 'Semantic Knowledge Questionnaire' in a Case of Apperceptive Visual Agnosia

Author

Masullo, Carlo, Piccininni, Chiara, and Quaranta, Davide

Abstract

Semantic memory was investigated in a patient (MR) affected by a severe apperceptive visual agnosia, due to an ischemic cerebral lesion, bilaterally affecting the infero-mesial parts of the temporo-occipital cortices. The study was made by means of a Semantic Knowledge Questionnaire (Laiacona, Barbarotto, Trivelli, & Capitani, 1993), which takes separately into account four categories of living beings (animals, fruits, vegetables and body parts) and of artefacts (furniture, tools, vehicles and musical instruments), does not require a visual analysis and allows to distinguish errors concerning super-ordinate categorization, perceptual features and functional/encyclopedic knowledge. When the total number of errors obtained on all the categories of living and non-living beings was considered, a non-significant trend toward a higher number of errors in living stimuli was observed. This difference, however, became significant when body parts and musical instruments were excluded from the analysis. Furthermore, the number of errors obtained on the musical instruments was similar to that obtained on the living categories of animals, fruits and vegetables and significantly higher of that obtained in the other artefact categories. This difference was still significant when familiarity, frequency of use and prototypicality of each stimulus entered into a logistic regression analysis. On the other hand, a separate analysis of errors obtained on questions exploring super-ordinate categorization, perceptual features and functional/encyclopedic attributes showed that the differences between living and non-living stimuli and between musical instruments and other artefact categories were mainly due to errors obtained on questions exploring perceptual features. All these data are at variance with the "domains of knowledge hypothesis," which assumes that the breakdown of different categories of living and non-living things respects the distinction between biological entities and artefacts and support the models assuming that "category-specific semantic disorders" are the by-product of the differential weighting that visual-perceptual and functional (or action-related) attributes have in the construction of different biological and artefacts categories. (Contains 1 figure and 2 tables.)

Published
2012
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35. Introduzione alla neuroanatomia funzionale dei processi cognitivi

Author

Quaranta, Davide, Silveri, Maria Caterina, Marra, Camillo, Quaranta D, Silveri MC (ORCID:0000-0001-5012-0682), marra C (ORCID:0000-0003-3994-4044), Quaranta, Davide, Silveri, Maria Caterina, Marra, Camillo, Quaranta D, Silveri MC (ORCID:0000-0001-5012-0682), and marra C (ORCID:0000-0003-3994-4044)

Abstract

italiano

Published
2022

36. Neuroanatomical Correlates of Semantic Features of Narrative Speech in Semantic and Logopenic Variants of Primary Progressive Aphasia

Author

Quaranta, Davide, Di Tella, Sonia, Marra, Camillo, Gaudino, Simona, L'Abbate, Federica, Silveri, Maria Caterina, Di Tella, Sonia (ORCID:0000-0002-2248-5120), Marra, Camillo (ORCID:0000-0003-3994-4044), Gaudino, Simona (ORCID:0000-0003-1681-4343), Silveri, Maria Caterina (ORCID:0000-0001-5012-0682), Quaranta, Davide, Di Tella, Sonia, Marra, Camillo, Gaudino, Simona, L'Abbate, Federica, Silveri, Maria Caterina, Di Tella, Sonia (ORCID:0000-0002-2248-5120), Marra, Camillo (ORCID:0000-0003-3994-4044), Gaudino, Simona (ORCID:0000-0003-1681-4343), and Silveri, Maria Caterina (ORCID:0000-0001-5012-0682)

Abstract

The semantic variant of a primary progressive aphasia (svPPA) is characterized by progressive disruption of semantic knowledge. This study aimed to compare the semantic features of words produced during a narrative speech in svPPA and the logopenic variant of PPA (lvPPA) and to explore their neuroanatomical correlates. Six patients with svPPA and sixteen with 1vPPA underwent narrative speech tasks. For all the content words, a semantic depth index (SDI) was determined based on the taxonomic structure of a large lexical database. Study participants underwent an MRI examination. Cortical thickness measures were extracted according to the Desikan atlas. Correlations were computed between SDI and the thickness of cortical regions. Mean SDI was lower for svPPA than for 1vPPA. Correlation analyses showed a positive association between the SDI and the cortical thickness of the bilateral temporal pole, parahippocampal and entorhinal cortices, and left middle and superior temporal cortices. Disruption of semantic knowledge observed in svPPA leads to the production of generic terms in narrative speech, and the SDI may be useful for quantifying the level of semantic impairment. The measure was associated with the cortical thickness of brain regions associated with semantic memory.

Published
2022

37. The Cerebellum Is a Key Structure in the Neural Network for Mentalizing: An MRI Study in the Behavioral Variant of Frontotemporal Dementia

Author

Olivito, Giusy, Quaranta, Davide, Siciliano, Libera, Caraglia, Naike, Caprara, Alessia, Marra, Camillo, Leggio, Maria, Silveri, Maria Caterina, Marra, Camillo (ORCID:0000-0003-3994-4044), Silveri, Maria Caterina (ORCID:0000-0001-5012-0682), Olivito, Giusy, Quaranta, Davide, Siciliano, Libera, Caraglia, Naike, Caprara, Alessia, Marra, Camillo, Leggio, Maria, Silveri, Maria Caterina, Marra, Camillo (ORCID:0000-0003-3994-4044), and Silveri, Maria Caterina (ORCID:0000-0001-5012-0682)

Abstract

The behavioural variant of frontotemporal dementia (bvFTD) is primarily characterized by deficits in social behaviour and theory of mind (ToM). Although a consensus has been reached on the roles of the cerebellum in social cognition and ToM, its specific contribution to social impairments of bvFTD has never been specifically investigated. The aim of this study was to assess cerebellar structural and functional changes in patients with bvFTD and their potential association with ToM deficits of patients. Therefore, 15 patients with bvFTD and 34 healthy subjects underwent an MRI examination. Voxel-based morphometry was used to assess cerebellar (GM) changes, and a seed-based analysis was performed to test cerebello-cerebral functional connectivity (FC). The performance of bvFTD patients in a ToM task was then correlated with FC patterns. Compared to healthy subjects, patients with bvFTD showed significant cerebellar GM loss specifically involving cerebellar Crus I-II. Additionally, FC changes FC were observed between the cerebellum and cerebral regions related to ToM. Interestingly, patterns of changes in cerebello-cerebral FC correlated with altered ToM performances explored using the "Reading the Mind with the Eyes" test (RMET) of patients. The present findings suggest that specific changes in cerebello-cerebral FC may underlie ToM alterations in patients with bvFTD.

Published
2022

40. Additional file 1 of Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB 1.0): development and normative data

Author

Conca, Francesca, Esposito, Valentina, Rundo, Francesco, Quaranta, Davide, Muscio, Cristina, Manenti, Rosa, Caruso, Giulia, Lucca, Ugo, Galbussera, Alessia Antonella, Di Tella, Sonia, Baglio, Francesca, L’Abbate, Federica, Canu, Elisa, Catania, Valentina, Filippi, Massimo, Mattavelli, Giulia, Poletti, Barbara, Silani, Vincenzo, Lodi, Raffaele, De Matteis, Maddalena, Stanzani Maserati, Michelangelo, Arighi, Andrea, Rotondo, Emanuela, Tanzilli, Antonio, Pace, Andrea, Garramone, Federica, Cavaliere, Carlo, Pardini, Matteo, Rizzetto, Cristiano, Sorbi, Sandro, Perri, Roberta, Tiraboschi, Pietro, Canessa, Nicola, Cotelli, Maria, Ferri, Raffaele, Weintraub, Sandra, Marra, Camillo, Tagliavini, Fabrizio, Catricalà, Eleonora, and Cappa, Stefano Francesco

Abstract

Additional file 1: Supplementary materials. Table S1. Correction grids for age, education and sex and Equivalent Scores for each test (when available). To correct the raw score, the examiner has to add/subtract the values indicated on the bases of the subject age and/or education and/or sex to the raw score. Corrected score is then assigned an Equivalent Score (when available) according to the corresponding grid of values.

Published
2022
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41. Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown

Author

Zucca, M., Isella, V., Lorenzo, R. D., Marra, Camillo, Cagnin, A., Cupidi, C., Bonanni, L., Lagana, V., Rubino, E., Vanacore, N., Agosta, F., Caffarra, P., Sambati, R., Quaranta, Davide, Guglielmi, Valeria, Appollonio, I. M., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., Martino, P. D., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, Claudia, Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Fede, G. D., Coppa, D., Peluso, L., Insarda, P., Bartolo, M. D., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Ciccola, A., Cionfrini, L., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Petrucci, R., Accogli, M., Carapelle, E., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Impagnatiello, V., Beretta, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Togni, L. D., Sala, F., Nicolosi, V., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Zucca M., Isella V., Lorenzo R.D., Marra C., Cagnin A., Cupidi C., Bonanni L., Lagana V., Rubino E., Vanacore N., Agosta F., Caffarra P., Sambati R., Quaranta D., Guglielmi V., Appollonio I.M., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., Bruni A.C., Gallo E., Grassini A., Marcinno A., Roveta F., Martino P.D., Frangipane F., Puccio G., Colao R., Mirabelli M., Martellacci N., Lino F., Mozzetta S., Busse C., Camporese G., Sacco S., Lechiara M.C., Carrarini C., Russo M., Casalena A., Sucapane P., Tiraboschi P., Caroppo P., Redaelli V., Fede G.D., Coppa D., Peluso L., Insarda P., Bartolo M.D., Esposito S., Iavarone A., Orsini A.V.M., Salvatore E., Criscuolo C., Sambati L., Santoro R., Gragnaniello D., Pedriali I., Ludovico L., Chiari A., Fabbo A., Bevilacqua P., Galli C., Magarelli S., Perini M., Spalletta G., Banaj N., Porcari D.E., Caruso G., Cipollini V., Casini A.R., Ursini F., Bruno G., Rozzini R., Brambilla M., Magnani G., Caso F., Spinelli E.G., Ramusino M.C., Perini G., Luzzi S., Cacchio G., Ciccola A., Cionfrini L., Giuli C., Fabi K., Guidi M., Paci C., Castellano A., Petrucci R., Accogli M., Carapelle E., Calabrese G., Trevisi G.N., Coluccia B., Giuliano A.V., Caggiula M., Impagnatiello V., Beretta F., Milia A., Pilia G., Mascia M.G., Putzu V., Piccoli T., Cuffaro L., Monastero R., Battaglia A., Blandino V., Lupo F., Cumbo E., Luca A., Caravaglios G., Vezzosi A., Bessi V., Tognoni G., Calsolaro V., Mossello E., Amici S., Trequattrini A., Pezzuto S., Mecocci P., Fichera G., Pradelli S., Formilan M., Coin A., Togni L.D., Sala F., Nicolosi V., Gallucci M., Mazzarolo A.P., Bergamelli C., Zucca, M, Isella, V, Di Lorenzo, R, Marra, C, Cagnin, A, Cupidi, C, Bonanni, L, Laganà, V, Rubino, E, Vanacore, N, Agosta, F, Caffarra, P, Sambati, R, Quaranta, D, Guglielmi, V, Appollonio, I, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Martellacci, N, Lino, F, Mozzetta, S, Bussè, C, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casalena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Orsini, A, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Perini, M, Spalletta, G, Banaj, N, Porcari, D, Caruso, G, Cipollini, V, Casini, A, Ursini, F, Bruno, G, Rozzini, R, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Cotta Ramusino, M, Perini, G, Luzzi, S, Cacchiò, G, Ciccola, A, Cionfrini, L, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Petrucci, R, Accogli, M, Carapelle, E, Calabrese, G, Trevisi, G, Coluccia, B, Vasquez Giuliano, A, Caggiula, M, Impagnatiello, V, Beretta, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Mossello, E, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Fichera, G, Pradelli, S, Formilan, M, Coin, A, De Togni, L, Sala, F, Nicolosi, V, Gallucci, M, Mazzarolo, A, Bergamelli, C, Zucca, Milena, Isella, Valeria, Lorenzo, Raffaele Di, Marra, Camillo, Cagnin, Annachiara, Cupidi, Chiara, Bonanni, Laura, Laganà, Valentina, Rubino, Elisa, Vanacore, Nicola, Agosta, Federica, Caffarra, Paolo, Sambati, Renato, Quaranta, Davide, Guglielmi, Valeria, Appollonio, Ildebrando M., Logroscino, Giancarlo, Filippi, Massimo, Tedeschi, Gioacchino, Ferrarese, Carlo, Rainero, Innocenzo, and Bruni, Amalia C.

Subjects
Aging, medicine.medical_specialty, Cognitive Neuroscience, Population, Psychological intervention, Protective factor, Neurosciences. Biological psychiatry. Neuropsychiatry, burden, 03 medical and health sciences, stress, 0302 clinical medicine, stre, medicine, Dementia, caregiver, COVID-19, dementia, Psychiatry, education, Original Research, MED/26 - NEUROLOGIA, education.field_of_study, 030214 geriatrics, burden, caregiver, COVID-19, dementia, stress, Family caregivers, business.industry, medicine.disease, Mental health, Settore MED/26 - NEUROLOGIA, Anxiety, Caregiver stress, M-PSI/08 - PSICOLOGIA CLINICA, medicine.symptom, business, 030217 neurology & neurosurgery, Neuroscience, RC321-571
Abstract

Background: Family caregivers of patients with dementia are at high risk of stress and burden, and quarantine due to the coronavirus disease 2019 (COVID-19) pandemic may have increased the risk of psychological disturbances in this population. The current study was carried out during the national lockdown declared in March 2020 by the Italian government as a containment measure of the first wave of the coronavirus pandemic and is the first nationwide survey on the impact of COVID-19 lockdown on the mental health of dementia informal caregivers.Methods: Eighty-seven dementia centers evenly distributed on the Italian territory enrolled 4,710 caregiver–patient pairs. Caregivers underwent a telephone interview assessing classical symptoms of caregiver stress and concern for the consequences of COVID-19 infection on patient’s health. We calculated prevalence of symptoms and regressed them on various potential stress risk factors: caregivers’ sociodemographic characteristics and lifestyle, patients’ clinical features, and lockdown-related elements, like discontinuity in medical care.Results: Approximately 90% of caregivers reported at least one symptom of stress, and nearly 30% reported four or more symptoms. The most prevalent symptoms were concern for consequences of COVID-19 on patient’s health (75%) and anxiety (46%). The main risk factors for stress were identified as a conflicting relationship with the patient and discontinuity in assistance, but caregiver’s female sex, younger age, lower education, and cohabitation with the patient also had an impact. Availability of help from institutions or private individuals showed a protective effect against sense of abandonment but a detrimental effect on concern about the risk for the patient to contract COVID-19. The only protective factor was mild dementia severity, which was associated with a lower risk of feeling isolated and abandoned; type of dementia, on the other hand, did not affect stress risk.Conclusion: Our results demonstrate the large prevalence of stress in family caregivers of patients with dementia during the COVID-19 pandemic and have identified both caregivers and situations at a higher risk of stress, which should be taken into account in the planning of interventions in support of quarantined families and patients.

Published
2021

47. Clinical and genetic characteristics of late-onset Huntington's disease

Author

Oosterloo, Mayke, Bijlsma, Emilia K., van Kuijk, Sander MJ., Minkels, Floor, de Die-Smulders, Christine EM., Bachoud-Lévi, Anne-Catherine, Bentivoglio, Anna-Rita, Biunno, Ida, Bonelli, Raphael M., Bronzova, Juliana, Burgunder, Jean-Marc, Dunnett, Stephen B., Ferreira, Joaquim J., Frich, Jan, Giuliano, Joe, Handley, Olivia J., Heiberg, Arvid, Illarioshkin, Sergey, Illmann, Torsten, Klempir, Jiri, Landwehrmeyer, G. Bernhard, Levey, Jamie, Mclean, Tim, Nielsen, Jørgen E., Koivisto, Susana Pro, Päivärinta, Markku, Pålhagen, Sven, Quarrell, Oliver, Ramos-Arroyo, Maria, Roos, Raymund A. C., Saft, Carsten, Sebastián, Ana Rojo, Tabrizi, Sarah J., Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström+, Jan, Zaremba, Jacek (formerly Rödig, Verena, Baake, Barth, Katrin, Garde, Monica Bascuñana, Becanovic, Kristina, Bernard, Tomáš, Betz, Sabrina, Bos, Reineke, Come, Adrien, Guedes, Leonor Correia, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Horta, Andrea, Hvalstedt, Carina, Held, Christine, Hussain, Hasina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren (formerly Heinonen), Niini, Salgueiro, Ana, Šašinková, Pavla, Seliverstov, Yury, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, van Walsem, Marleen R., Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Hecht, Karen, Herranhof, Brigitte, Holl (formerly Hödl), Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Linder, Christoph, Pirker, Walter, Liessens, Dirk, Calmeyn, Godelinde, Somers, Nele, Delvaux, Isabelle, Boogaerts, Andrea, Flamez, Anja, de Raedt, Sylvie, Alaerts, Nick, Slama, Hichem, Supiot, Frédéric, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, van de Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, van Reijen, Dimphna, Weckx, Petra, Kaiserova, Michaela, Šenkárová, Zuzana, Bezdíček, Ondřej, Klempíř, Jiří, Klempířová, Olga, Majerová-Ibarburu, Veronika, Nikolai, Tomáš, Roth, Jan, Stárková, Irena, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Larsen, Ida Unmack, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Roos, Peter, Stockholm, Jette, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjatta, Bruun, Anu, Hartikainen, Paivi, Mäkipää, Seija, Ollokainen, Mari, Åman, Jaana, Kärppä, Mikko, Ignatius, Jaakko, Jääskeläinen, Outi, Kajula, Outi, Moilanen, Jukka, Mustonen, Aki, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Ojala, Marjut, Tähkäpää, Sirkku, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Bled, Déborah, Debruxelles, Sabrina, Duché, Charlotte, Fraisse, Sonia, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Derost, Philippe, Durif, Franck, Germain, Véronique, Legendre, Perrine, Loiseau, Sylvie, Marques, Ana, Ulla, Miguel, Vidal, Tiphaine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, Cleret de Langavant, Laurent, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnès, Barthélémy, Recka, De Bruycker, Christelle, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicolas, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Blin, Stéphanie, Chen, Simone, Masmoudi, Kamel, Morin, Gilles, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Zouitina, Yassine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Guenam, Aicha, Mundler, Laura, Nguyen, Karine, Benaich, Sandra, Brice, Alexis, Boster, Sarah, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Monnier, Tiffany, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Anheim, Mathieu, Barun, Nadia, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Gisèle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Marquine, Laurent, Pariente, Jérémie, Pierre, Michèle, Pomies, Elsa, Rolland, Sandrine, Souyris, Corinne, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Beuth, Markus, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Stamm, Christiane, Ganos, Christos, Stubbe, Lars, Tadic, Vera, Tübing, Jennifer, Lange, Herwig, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthias, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharias, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Goerendt, Ines, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat+, Michael, Longinus, Bernhard, Möller, Carsten, Bürk, Katrin, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthias, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Musacchio, Thomas, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Nuzzi, Angela, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Agosti, Chiara, Barlati, Sergio, Compostella, Silvia, Marchina, Eleonora, Padovani, Alessando, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bertini, Elisabetta, Bartoli, Caterina, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, Bandettini di Poggio, Monica, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Tamburini, Tiziano, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Esposito, Chiara, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, D'Alessio, Barbara, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, Di Giacopo, Raffaella, Fasano, Alfonso, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Romano, Silvia, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Ristori, Giovanni, van Hout, Monique S. E., van Vugt, Jeroen P. P., Marit de Weert, A., Verhoeven, Marloes, Dekker, Meike, Klooster, Jesper, Leenders, Nico, van Oostrom, Joost, Kremer, Berry, Baake, Verena, van den Bogaard, Simon J. A., Dumas, Eve M., t Hart, Ellen P., Hogenboom, Marye, Jacobs, Milou, Jurgens, Caroline, Kampstra, Anne, Schoonderbeek, Anne, Witjes-Ané, Marie-Noëlle, Duits, Annelien, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Retterstøl, Lars, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, van Walsem, Marleen, Wehus, Ragnhild, Arntsen, Vibeke, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Østern, Rune, Paulsen, Julie, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska – Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anna Bryl, Jacek Anioła, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol (formerly Kalbarczyk), Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski+, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Coelho, Miguel, Magalhães, Andreia, Mendes, Tiago, Neutel, Dulce, Rodrigues, Filipe, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Santos, Mariana, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Gonçalves, Alexandra, Loureiro, Rui, Moreira, Inês, Magalhães, Marina, Salgado, Paula, Andrade, Carlos, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Khasanova, Diana, Zalyalova, Zuleykha, Klyushnikov, Sergey, Sidorova, Olga, Smirnov, Oleg, Antonova, Victoria, Kopishinskaya, Svetlana, Korotysh, Maria, Magzhanov, Rim, Saifullina, Elena, Kurbatov, Sergey, Solis, Pilar, Herrera, Carmen Durán, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, María, Andrés de la Cerda Santa, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Pardo, Sonia Arribas, Guia, Dolors Badenes, Calzado, Noemi, Hernanz, Laura Casas, Tartari Díaz-Zorita, Juan Pablo, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Ruiz Idiago, Jesús Miguel, Riballo, Antonio Villa, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Bojarsky, Jaime Kulisevsky, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Acera Gil, Maria Angeles, Corrales, Koldo Berganzo, Gomez Esteban, Juan Carlos, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Sánchez, Jesús, Romero, Sandra Gutierrez, Arbelo, José Matías, Malo de Molina, Rocío, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Loarte, María del Valle, Barrero, Francisco, Morales, Blas, Frades, Belén, Villanueva, Marina Ávila, Zea Sevilla, Maria Ascension, Fenollar, María del Mar, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatás, Caldentey, Juan García, Ribas, Guillermo García, García de Yébenes, Justo, López-Sendón Moreno, José Luis, Barral, Verónica Mañanes, Feliz, Cici, García Ruíz, Pedro José, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Pueyo, Angel Martínez, Martin, Veronica Puertas, Martínez, Noelia Rodríguez, Montojo, Teresa, Sainz Artiga, María José, Sánchez, Vicenta, Alarcón, María Dolores, Almagro, Carmen Antúnez, Diéguez, Esther, Fortuna, Lorenza, Legaz, Agustina, Manzanares, Salvadora, Muñoz, Juan Marín, Antequera Torres, María Martirio, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlos, Lozano, Pablo Sánchez, Ramirez, Inés Legarda, Benito, Dolors Moragues, Arques, Penelope Navas, Lopera, Monica Rodriguez, Pastor, Barbara Vives, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolores, Ramos-Arroyo, Maria Antonia, Adarmes, Astrid, Bernal-Escudero, Maravilla, Carrillo, Fátima, Jesús, Silvia, Mir, Pablo, Vargas-González, Laura, Hermoso, Fátima Damas, García Moreno, José Manuel, Jaramillo, Javier Abril, Lucena, Carolina Mendez, Pacheco Cortegana, Eva María, Peña, José Chacón, Redondo, Luis, Sánchez, Violeta Sánchez, Fernandez, Cristina Melgar, Romero Lemos, María Dolores, Mata, Maite Paredes, Casado, Rocío Villagrán, Bosca, Maria, Burguera, Juan Andres, Brugada, Francisco Castera, Millán Salvador, Jose Maria, Vilaplana, Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Diago, Elena Bellosta, López del Val, Javier, Martinez, Laura Martinez, López, Elena, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Lewin, Kajsa, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Esmaeilzadeh, Mouna, Tedroff, Joakim, Winnberg, Elisabeth, Benaminov, Stanislav, Björnsson, Elisabeth, Merrick, Daniel, Paucar, Martin, Svenningsson, Per, Wallden, Tina, Berglund, Måns, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Johansson, Anders, Niemelä, Valter, Nyholm, Dag, Wiklund, Leif, Koehli, Jessica, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francois, Wider+, Christian, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Harrower, Timothy, Vernon, Nathan, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza (Keylock), Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Haig-Brown, Diane, Craven, Janet, Pallett, Andrew, Simpson, Steve, Weekes, Rebecca, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Barker, Roger A., O'Keefe, Deidre, Gerrtiz (nee Di Pietro), Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Goudie, David, Buchanan, Lindsay, Mcfadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Carrie, Ho, Mcgill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Neumann, Christian, Patterson, Kirsten, Thomson, David, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Harrison, Kaye, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Rowett, Liz, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Gosling (nee Brown), Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thomas, Wild, Edward, Ackermann, Oda, Duport, Sophie, Scott, Adrienne, Stoy, Nicholas, Vaughn, Jenny, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen (formerly Ritchie), Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Lois, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Purkayastha, Debasish Das, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O., Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Burn, John, Bailey, Wendy, Coleman, Caroline, Majeed, Tahir, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Aileen, Ho, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Taylor, Cat, Tidswell, Katherine, Kipps, Christopher, Mackinnon, Lesley, Agarwal, Veena, Hayward, Elaine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Heywood, Melanie, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Wood, Sue, Kennedy (nee Smith), Karen, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Louis, Lau, Puay Ngoh, Pica, Emmanuel, Roos, Raymund AC., Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: KIO Kemta (9), Epidemiologie, RS: CAPHRI - R2 - Creating Value-Based Health Care, Klinische Genetica, MUMC+: DA KG Polikliniek (9), and RS: GROW - R4 - Reproductive and Perinatal Medicine

Subjects
Male, HD, 0301 basic medicine, Pediatrics, Neurology, Huntingtin Protein/genetics, FEATURES, Disease, Neuropsychological Tests, 0302 clinical medicine, Cognitive Dysfunction/psychology, Medicine, Family history, Postural Balance, Huntington Disease/genetics, Huntingtin Protein, education.field_of_study, Chorea/physiopathology, Huntington's disease, Sensation Disorders/physiopathology, Middle Aged, Dystonia, Settore MED/26 - NEUROLOGIA, Huntington Disease, neurodegenerative disorders, Sensation Disorders, Disease Progression, Female, medicine.symptom, Adult, medicine.medical_specialty, Population, Age of onset, Late-onset Huntington's disease, Geriatrics and Gerontology, Neurology (clinical), 03 medical and health sciences, AGE, Chorea, Humans, Cognitive Dysfunction, education, Dystonia/physiopathology, Gait Disorders, Neurologic/physiopathology, Gait Disorders, Neurologic, business.industry, medicine.disease, Gait, 030104 developmental biology, Trinucleotide Repeat Expansion, business, 030217 neurology & neurosurgery, Balance problems
Abstract

Background: The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive. Objective: Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database. Methods: Participants with late- and common-onset (30–50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded. Results: Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P

Published
2019

50. Semantic Memory as an Early Cognitive Marker of Alzheimer's Disease: Role of Category and Phonological Verbal Fluency Tasks

Author

Marra, Camillo, Piccininni, Chiara, Iacobucci, Giovanna Masone, Caprara, Alessia, Gainotti, Guido, Costantini, Emanuele Maria, Callea, Antonio, Venneri, Annalena, Quaranta, Davide, Marra, Camillo (ORCID:0000-0003-3994-4044), Maria Costantini, Emanuele, Marra, Camillo, Piccininni, Chiara, Iacobucci, Giovanna Masone, Caprara, Alessia, Gainotti, Guido, Costantini, Emanuele Maria, Callea, Antonio, Venneri, Annalena, Quaranta, Davide, Marra, Camillo (ORCID:0000-0003-3994-4044), and Maria Costantini, Emanuele

Abstract

Background: The assessment of semantic memory may be a useful marker to identify individuals with mild cognitive impairment (MCI) who will progress to Alzheimer's disease (AD) in the early stages of the disease. Objective: The aim of this five-year follow-up longitudinal study is to assess whether semantic assessment could predict progression in MCI. Methods: A population of MCI (N = 251); mild (N = 178) and moderate AD (N = 114); and a sample of healthy participants (HP; N = 262) was investigated. The five-year follow-up of the MCI group was completed by 178 patients. Semantic and episodic memory measures were used, including a measure of the discrepancy between categorical and phonological verbal fluency, the semantic-phonological delta (SPD). The main outcome was the progression of MCI due to AD to dementia. Results: A general linear model showed a significant effect of diagnosis on SPD (Wilks' Lambda = 0.591; p < 0.001). The estimated marginal means were -0.91 (SE = 0.185) in HP, -1.83 (SE = 0.187) in MCI, -1.16 (SE = 0.218) in mild AD, and -1.02 (SE = 0.275) in moderate AD. Post-hoc comparisons showed a significant difference between MCI and HP (p < 0.001). The follow-up was completed by 178 MCI individuals. SPD in MCI patients who progress to dementia was significantly lower than in MCI that will not progress (p = 0.003). Together with the Mini-Mental State Examination, the SPD was the only measure with a significant predicting effect at the five-years follow-up (p = 0.016). Conclusion: The SPD indicate the impairment of semantic memory in individuals with underlying AD at the MCI early stage, reflecting the early involvement of perirhinal and entorhinal cortices in the earliest stages of AD neuropathological process.

Published
2021

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