Publications by authors named "Cristiano Sorrentino"

Background: People with Parkinson's disease (pwPD) are a candidate population to regularly use telemedicine services. However, their implementation into clinical practice can be limited by the so-called "digital exclusion" of the target population.

Objective: We aimed to (1) explore the level of digital inclusion in a cohort of pwPD as compared to sex- and age-matched healthy controls (HC), and (2) to determine the possible influence of both socio-demographic factors and disease features on the level of digital exclusion.

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The Scales for Outcomes in Parkinson's disease-Psychiatric Complications (SCOPA-PC) is a validated tool to score psychotic and compulsive symptoms in Parkinson's disease (PD). We translated into Italian the SCOPA-PC and evaluated its psychometric properties and clinical correlates in different subgroups of PD patients. The scale underwent translation, back-translation, and cognitive pretesting before being administered to a calculated sample of 135 PD patients.

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Background: Mild cognitive impairment (MCI) and freezing of gait (FOG) are two common symptoms in Parkinson's disease (PD).

Objectives: The objectives were to test the strength of association of fist-palm test (FiPaT), a nonverbal motor test, with both MCI and FOG in PD and investigate the predictive ability of FiPaT in the identification of PD patients with MCI or FOG.

Methods: We enrolled 74 PD patients: 47 of 74 patients had MCI (PD + MCI), 27 of 74 were cognitively unimpaired (PD-NC), 29 of 74 presented FOG (PD + FOG), and 45 of 74 were without FOG (PD-FOG).

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Recent biological frameworks of Parkinson's disease (PD) rely on the new advances in α-synuclein detection in biological tissues, mostly through α-synuclein seed amplification assays, and are mainly aimed at intercepting pre-clinical or early phases of disease to be subjected to disease-modifying therapies targeting α-synuclein. However, α-synuclein pathology alone is insufficient to explain the observed clinical heterogeneity of PD. Indeed, it has been demonstrated that a number of additional elements, such as genetics, comorbidities, co-pathology, and environmental factors, may influence PD phenotype and progression.

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Background: Large-language models (LLMs) driven by artificial intelligence allow people to engage in direct conversations about their health. The accuracy and readability of the answers provided by ChatGPT, the most famous LLM, about Essential Tremor (ET), one of the commonest movement disorders, have not yet been evaluated.

Methods: Answers given by ChatGPT to 10 questions about ET were evaluated by 5 professionals and 15 laypeople with a score ranging from 1 (poor) to 5 (excellent) in terms of clarity, relevance, accuracy (only for professionals), comprehensiveness, and overall value of the response.

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Article Synopsis
  • * A family case study reveals varied neurodegenerative disorders among siblings, including Progressive Supranuclear Palsy, Corticobasal Syndrome, and Parkinson's disease-dementia, showcasing the genetic complexity.
  • * This study is notable for presenting the first documented case of such diverse clinical manifestations within a single family linked to the same genetic variant.
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Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation. GBA1 variant carriers are at risk of Parkinson's disease (PD), but only those with biallelic mutations cross the threshold of GCase reduction, leading to substrate accumulation and GD. The link between GBA1 mutations, GD and PD is not fully understood.

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Article Synopsis
  • Tremor disorders often get misdiagnosed, and this study compares three types: pure Essential Tremor (ET), ET with soft dystonic signs (ET + DS), and tremor with dystonia (TwD).
  • Researchers analyzed 383 patients, finding significant differences in demographics and tremor onset sites among the groups, along with varying symptoms and responsiveness to treatment.
  • The findings suggest overlaps between pure ET and TwD, indicating a need for better diagnostic tools, with ET + DS showing characteristics from both groups, highlighting a complexity within these syndromes.
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Background: To date, there are no large studies delineating the clinical correlates of "pure" essential tremor (ET) according to its new definition.

Methods: From the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diagnosis of "pure" ET and excluded those with other tremor classifications, including ET-plus, focal, and task-specific tremor, which were formerly considered parts of the ET spectrum.

Results: Out of 653 subjects recruited in the TITAN study by January 2022, the data of 208 (31.

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Introduction: Progranulin (PGRN) is a secreted glycoprotein encoded in humans by the GRN gene, located on chromosome 17q21. Several nonsense and missense pathogenetic GRN mutations have been described.

Objective: We herein describe two sisters carrying a rare GRN mutation with extremely different clinical features and family history of dementia and behavioral disorders, with a novel presentation with stridor and dysphonia.

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Since the initial description of Essential Tremor (ET), the entity of ET with rest tremor has proven to be a controversial concept. Some authors argued it could be a late manifestation of ET, others suggested it could be a variant of ET, yet others suggested it could represent a transitional state between ET and Parkinson's disease. The novel tremor classification has proposed the construct of ET-plus to differentiate patients with rest tremor from pure ET.

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