Publications by authors named "P A Ruffo"
Article Synopsis
- Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable leg sensations and an urge to move, especially during rest, but its genetic causes are not fully known.
- Researchers conducted a large-scale study analyzing the genomes of nearly 10,000 RLS cases and over 38,000 controls, discovering 9 genetic risk loci, including one novel locus (LMX1B).
- The findings suggest significant genetic overlaps between RLS and other conditions like neuroticism, depression, and even intelligence, advancing the understanding of RLS's genetic determinants.
Article Synopsis
- Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
- A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
- The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
Article Synopsis
- - The study investigates hexanucleotide repeat expansions (RE) in genes associated with amyotrophic lateral sclerosis (ALS), particularly focusing on their frequency within the Italian population and their potential link to the disorder's clinical features.
- - Researchers screened 302 ALS patients and compared their RE distribution with that of 167 healthy controls, finding similar distributions but a moderate correlation between longer repeat lengths and certain clinical features such as age of onset and family history.
- - This research is the first of its kind in southern Italy, revealing that while REs are present, the rare pathogenic repeats do not show a significant association with ALS, contributing valuable insights to the genetic understanding of the disorder.
Dementia with Lewy bodies (DLB) is a common form of dementia in the elderly population. We performed genome-wide DNA methylation mapping of cerebellar tissue from pathologically confirmed DLB cases and controls to study the epigenetic profile of this understudied disease. After quality control filtering, 728,197 CpG-sites in 278 cases and 172 controls were available for the analysis.
View Article and Find Full Text PDFArticle Synopsis
- Restless legs syndrome (RLS) is a neurological condition characterized by uncomfortable leg sensations and an urge to move, especially during rest; the causes are not fully understood.
- A study involving genome sequencing of nearly 10,000 RLS cases and almost 39,000 controls identified nine genetic risk loci, including one new locus, which contributes to understanding the genetics behind RLS.
- The research also found correlations between RLS and other conditions like neuroticism, depression, and intelligence, suggesting that common genetic variants play a significant role in this widespread disorder.