0000000000458100
AUTHOR
G Vita
showing 2 related works from this author
ALEXITHYMIA, BURDEN AND EMOTIONAL STATE IN ALS’ CAREGIVERS
2016
Introduction: 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). Although an extensive literature documents the levels of distress among caregivers of patients with progressive illness, less attention has been directed to determinants of caregiver mood and emotional regulation (Rabkin et al., 2009). In particular, there are not studies that assess the role of alexithymia in ALS. We evaluated the relationship between alexithymia and burden, and psychopatological symptoms in ALS’caregivers. Methods: 17…
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
2021
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.