Publications by authors named "M Carecchio"
In this study, we compared the value of pathological alpha-synuclein (αSyn) seed amplification assay (SAA) in gastric and duodenal biopsies with skin biopsies in Parkinson disease (PD) patients with different disease duration. The accuracy of αSyn SAA was 87.7% in skin, 67.
View Article and Find Full Text PDFFamily History in Parkinson's Disease: A National Cross-Sectional Study.
Mov Disord Clin Pract
November 2024
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.
Background: Gastrointestinal dysfunction has emerged as a prominent early feature of Parkinson's Disease, shedding new light on the pivotal role of the enteric nervous system in its pathophysiology. However, the role of immune-cell clusters and inflammatory and glial markers in the gut pathogenetic process needs further elucidation.
Objectives: We aimed to study duodenum tissue samples to characterize PD's enteric nervous system pathology further.
Article Synopsis
- Parkinson's disease (PD) is a complex disorder influenced by genetic factors, with this study focusing on a cohort from Northeastern Italy to explore its genetic basis and clinical characteristics.
- Using a next-generation sequencing (NGS) panel, researchers identified 133 genetic variants in 218 PD patients, diagnosing monogenic PD in 20% of them, primarily linked to mutations in the GBA1, LRRK2, and PRKN genes.
- The findings suggest that certain clinical criteria, like early age of onset, can reliably predict positive genetic test outcomes, which helps in managing patient care and opens avenues for future therapies targeting specific genetic causes of the disease.
Article Synopsis
- - Primary Familial Brain Calcification (PFBC) is a rare condition mainly affecting adults, characterized by abnormal calcium deposits in the brain, leading to movement disorders like parkinsonism and various non-motor symptoms that need further exploration.
- - In a study of 50 PFBC patients, genetic testing revealed mutations in some patients and highlighted symptoms such as headaches, anxiety, depression, sleep disturbances, and constipation, with cognitive issues found in more than half of the cohort.
- - The findings suggest that non-motor symptoms are common among PFBC patients and emphasize the importance of thorough assessments to address the diverse needs of these individuals.