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Authors: Pizzorni, Nicole | Ciammola, Andrea | Pirola, Chiara | Nanetti, Lorenzo | Castaldo, Anna | Poletti, Barbara | Mariotti, Caterina | Schindler, Antonio

Article Type: Research Article

Abstract: Background: Oropharyngeal dysphagia (OD) is a common symptom in Huntington’s disease (HD) and is associated with severe health and psychosocial consequences. Different OD phenotypes are defined on the basis of characteristic patterns at fiberoptic endoscopic evaluation of swallowing (FEES), and they may vary during disease progression. Objective: To describe OD phenotypes in different HD stages and to analyze their association with neurological data and tongue pressure measurements. Methods: Twenty-four patients with HD at different stages of disease progression underwent a FEES. Data on penetration/aspiration, pharyngeal residue, and OD phenotypes were gained. Neurological examination was performed with the Unified Huntington’s Disease …Rating Scale (UHDRS). Patient Maximum tongue pressure (MTP) and tongue endurance were measured. Results: We confirmed that the occurrence of penetration/aspiration increased with disease duration and pharyngeal residue increased from 16.7% to 100%, respectively. The most common OD phenotypes were oropharyngeal dyspraxia (91.7%), posterior oral incontinence (87.5%), and delayed pharyngeal phase (87.5%). These types of dysfunctions are already detectable in >80% of patients in the early disease stages. In more advanced stages, we also observed propulsion deficit (66.7%), resistive issue (54.2%), and protective deficit (37.5%). Propulsion deficit was associated with higher disease stage, greater motor dysfunction (UHDRS-I), and lower MTP and tongue endurance (p  < 0.05). Conclusions: OD in HD results from a combination of different swallowing phenotypes. Early assessment of swallowing and periodical follow-ups are necessary to monitor OD severity and phenotypes and to revise diet recommendations. Show more

Keywords: Huntington’s disease, deglutition disorders, disease progression, tongue

DOI: 10.3233/JHD-231519

Citation: Journal of Huntington's Disease, vol. 13, no. 2, pp. 225-235, 2024

Authors: Verde, Federico | Aiello, Edoardo Nicolò | Adobbati, Laura | Poletti, Barbara | Solca, Federica | Tiloca, Cinzia | Sangalli, Davide | Maranzano, Alessio | Muscio, Cristina | Ratti, Antonia | Zago, Stefano | Ticozzi, Nicola | Frisoni, Giovanni Battista | Silani, Vincenzo

Article Type: Short Communication

Abstract: We describe a case of amyotrophic lateral sclerosis (ALS) associated with Alzheimer’s disease (AD) and review the literature about the coexistence of the two entities, highlighting the following: mean age at onset is 63.8 years, with slight female predominance; ALS tends to manifest after cognitive impairment and often begins in the bulbar region; average disease duration is 3 years; cognitive phenotype is mostly amnestic; the pattern of brain involvement is, in most cases, consistent with AD. Our case and the reviewed ones suggest that patients with ALS and dementia lacking unequivocal features of FTD should undergo additional examinations in order …to recognize AD. Show more

Keywords: Alzheimer’s disease, amyotrophic lateral sclerosis, neurodegeneration, neuropsychology

DOI: 10.3233/JAD-230562

Citation: Journal of Alzheimer's Disease, vol. 95, no. 4, pp. 1383-1399, 2023