Publications by authors named "Carlo Colosimo"

Alzheimer-Perusini's disease (AD) represents a growing health crisis. The lack of effective disease-modifying treatments and its increasing prevalence in the elderly population contribute to a major burden for patients and their caregivers, challenging health systems globally. The accumulation of beta-amyloid protein (Aβ) within the brain tissue plays an important pathogenic role in the inflammatory and degenerative mechanisms leading to cognitive and functional impairment.

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Diagnosing Atypical Parkinsonian Syndromes (APS) may be challenging due to overlapping clinical features of Parkinson's disease (PD), and the lack of pathognomonic diagnostic tests. Fluid biomarkers can be useful tools that make it easier to identify and track different APS. Objectives: this narrative review aim to update the current state of fluid biomarker research in APS and their potential implications in clinical practice.

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Tardive dyskinesia (TD) is a chronic, often disabling hyperkinetic movement disorder associated with prolonged use of dopamine receptor blocking agents (DRBAs), particularly antipsychotics (APs) for psychiatric disorders such as schizophrenia and bipolar disorder. It manifests as abnormal, involuntary movements, often involving the orofacial region, extremities, or trunk, and is associated with significant physical and psychosocial impairment. TD is primarily linked to dopamine receptor hypersensitivity, oxidative stress, and genetic susceptibility, with a higher prevalence in patients treated with first-generation APs.

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Oxidative stress (OS), a condition that occurs when the balance between reactive oxygen species production and antioxidant defense mechanisms is disrupted, has been implicated in the pathogenesis of several neurological conditions, including neurodegenerative and vascular disorders. Ferroptosis is a mechanism mediating OS-induced damage, with growing evidence of specific involvement in both Parkinson's disease (PD) and ischemic stroke. Regular physical activity may have an antioxidant effect by increasing the production and activity of nonenzymatic and enzymatic antioxidants.

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Introduction: Parkinson's Disease (PD) is a highly heterogeneous entity in terms of clinical manifestations, progression, and treatment response. This variability has given rise to the hypothesis that different clinical subtypes of the disease exist.

State Of The Art: To date, several clinical subtypes have been described, mostly based on different clinical features, and sometimes with the support of biomarkers, either fluid, neuroimaging, or neurophysiological.

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Article Synopsis
  • Family history of Parkinson's disease (PD) was examined in a study involving 2035 PD patients across 28 Italian centers, revealing that 21.9% had a family history of the disease.
  • Familial PD (fPD) patients experienced symptoms at an earlier age compared to sporadic PD (sPD) patients, although both groups showed similar prevalence of motor and nonmotor symptoms.
  • The findings suggest that fPD occurs more frequently than previously thought, highlighting the need for comprehensive family history taking to uncover potential disease patterns and risk factors.
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  • Dropped head syndrome (DHS) involves severe neck flexion due to neck muscle tone imbalance, often linked to neuromuscular conditions like myasthenia gravis (MG), while Parkinson's disease (PD) may present with a similar issue called antecollis without muscle weakness.
  • A case study of a 71-year-old man showed symptoms of neck flexion and Parkinsonism, including rigidity and reduced arm swing, but also revealed significant neck muscle weakness and confirmed MG with specific tests.
  • Successful treatment involved medications for both MG (pyridostigmine and plasma exchange) and PD (carbidopa/levodopa), emphasizing the importance of detailed clinical evaluations to address the complex interplay between these conditions
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For a long time, the immune system has been considered responsible for only a minority of neurological conditions involving the central and peripheral nervous system (CNS, PNS), respectively, namely multiple sclerosis and myasthenia gravis (with myastheniform syndromes) [...

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We report the analysis of 1 year of data from the first cohort of 15 patients enrolled in an open-label, first-in-human, dose-escalation phase I study (ClinicalTrials.gov: NCT03282760, EudraCT2015-004855-37) to determine the feasibility, safety, and tolerability of the transplantation of allogeneic human neural stem/progenitor cells (hNSCs) for the treatment of secondary progressive multiple sclerosis. Participants were treated with hNSCs delivered via intracerebroventricular injection in combination with an immunosuppressive regimen.

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Article Synopsis
  • - Multiple system atrophy (MSA) is a severe disease with varying motor and autonomic symptoms, and previous studies have linked certain clinical factors to reduced survival rates.
  • - Researchers analyzed 210 MSA patients over 17 years to create a survival risk model using clinical factors like age at symptom onset and early autonomic failure.
  • - They developed a nomogram to predict individual survival probabilities over 7 years, which showed good accuracy and could enhance patient counseling and treatment strategies.
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The term 'endemic parkinsonism' refers to diseases that manifest with a dominant parkinsonian syndrome, which can be typical or atypical, and are present only in a particular geographically defined location or population. Ten phenotypes of endemic parkinsonism are currently known: three in the Western Pacific region; two in the Asian-Oceanic region; one in the Caribbean islands of Guadeloupe and Martinique; and four in Europe. Some of these disease entities seem to be disappearing over time and therefore are probably triggered by unique environmental factors.

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Neurodegenerative diseases are a broad heterogeneous group affecting the nervous system. They are characterized, from a pathophysiological perspective, by the selective involvement of a subpopulation of nerve cells with a consequent clinical picture of a disease. Clinical diagnoses of neurodegenerative diseases are quite challenging and often not completely accurate because of their marked heterogeneity and frequently overlapping clinical pictures.

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Introduction: Chronic traumatic encephalopathy (CTE) is an emergent neurodegenerative tauopathy well characterized pathologically but with limited consensus about clinical criteria. The clinical features include cognitive, behavioral, and motor symptoms such as parkinsonism, gait, balance disorder, and bulbar impairment. Their recognition derives from retrospective studies in pathologically confirmed CTE patients.

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Paraneoplastic neurological syndromes (PNS) include any symptomatic and non-metastatic neurological manifestations associated with a neoplasm. PNS associated with antibodies against intracellular antigens, known as "high-risk" antibodies, show frequent association with underlying cancer. PNS associated with antibodies against neural surface antigens, known as "intermediate- or low-risk" antibodies, are less frequently associated with cancer.

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Stem cell-based therapies (SCT) to treat neurodegenerative disorders have promise but clinical trials have only recently begun, and results are not expected for several years. While most SCTs largely lead to a symptomatic therapeutic effect by replacing lost cell types, there may also be disease-modifying therapeutic effects. In fact, SCT may complement a multi-drug, subtype-specific therapeutic approach, consistent with the idea of precision medicine, which matches molecular therapies to biological subtypes of disease.

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Background And Purpose: The purpose of this study was to investigate the role of risk factors in predicting the variation in carotid atherosclerosis at ultrasonographic follow-up and, therefore, its role in the progression of large-vessel disease.

Methods: This retrospective population study included all the outpatients that underwent at least two carotid ultrasonographies at our laboratory from 2001 to 2017. Demographic data, vascular risk factors, and the results at follow-up were analysed to determine if correlations exist between these risk factors and variation in carotid atherosclerosis.

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Background: the study of movement disorders associated with oncological diseases and anticancer treatments highlights the wide range of differential diagnoses that need to be considered. In this context, the role of immune-mediated conditions is increasingly recognized and relevant, as they represent treatable disorders.

Methods: we reappraise the phenomenology, pathophysiology, diagnostic testing, and treatment of movement disorders observed in the context of brain tumors, paraneoplastic conditions, and cancer immunotherapy, such as immune-checkpoint inhibitors (ICIs).

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