Publications by authors named "F Gotta"
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.
View Article and Find Full Text PDFSpontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs).
View Article and Find Full Text PDFGiven the ongoing COVID-19 pandemic, there is a need to identify SARS-CoV-2 and to differentiate it from other respiratory viral infections, especially influenza A and B, in various critical settings. Since their introduction, the use of rapid antigen tests has spread worldwide, but there is variability in their diagnostic accuracy. In the present study, we evaluated the clinical performance of the ID NOW™ COVID-19 2.
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- Biallelic mutations in the MME gene are linked to late-onset CMT2T, with recent findings suggesting heterozygous mutations may also contribute to varying degrees of axonal neuropathy severity.
- The study involved 32 Italian patients, using neurological and genetic tests to assess the impact of MME variants, revealing that both biallelic and heterozygous patients experience similar symptoms but with biallelic patients showing earlier and more severe disease progression.
- CM2T is characterized as a late-onset neuropathy primarily affecting older adults, with it being particularly relevant for those with biallelic mutations as they tend to show quick disease progression.
Article Synopsis
- Apathy unawareness in mild cognitive impairment (MCI) is linked to differences between caregiver and patient assessments, potentially predicting progression to Alzheimer's dementia.
- Researchers studied 28 MCI patients, using the Apathy Evaluation Scale to gauge apathy levels from both perspectives, and analyzed brain activity via PET scans.
- Findings revealed that greater discrepancies in assessments correlated with lower metabolism in specific brain regions, indicating that apathy unawareness is tied to early limbic system disruptions rather than traditional pathways associated with apathy.