0000000001153859
AUTHOR
Lunetta Christian
showing 2 related works from this author
Alexithymia, burden and resilience in ALS’ caregivers
2017
Living with a progressively disease such as Amyotrophic lateral sclerosis (ALS) has a strong impact on the people affected and on their relatives, who have to tackle the demanding duties of caring for and assisting them (Tramonti et al., 2014). Many factors modulate the levels of burden in ALS’ caregivers: disease related factors, personality related factors, enviromental factors. Dennison et al (2001) showed that alexithymia could to contribute to increasing distress in ALS’ caregivers, but there are very few studies on this. Other studies supporting the role of resilience such as protective factor (Ripamonti, 2015). The aim of the study is to assess the relationship between alexithymia, r…
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
2012
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally-matched control samples (1,238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified d…