Publications by authors named "S Gallone"
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
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- - Multiple epiphyseal dysplasia (MED) is a group of genetic skeletal disorders causing epiphyseal abnormalities and mild short stature, often starting in childhood with joint pain and stiffness leading to degenerative issues.
- - The most common form, caused by mutations in the Cartilage Oligomeric Matrix Protein (COMP) gene, typically affects the hips and can include osteochondritis dissecans (OCD) as a complication.
- - A case study of a 24-year-old man with COMP-MED reveals multiple OCD occurrences, highlighting the potential for this condition to appear in related forms of MED, expanding its recognized clinical features.
Article Synopsis
- Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
- Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
- Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.