Publications by authors named "P Soliveri"
Background: Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood.
Cases: We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years.
Article Synopsis
- A study examined twelve individuals from five families with rare genetic variants linked to either adult-onset dystonia, hearing loss, or intellectual disabilities.
- Advanced DNA profiling helped distinguish cases of adult-onset dystonia from other conditions, highlighting the importance of these genetic variants and suggesting a need for further research on associated symptoms.
Objectives: There is growing evidence that Parkinson's disease and diabetes are partially related diseases; however, the association between the two, and the impact of specific treatments, are still unclear. We evaluated the effect of T2D and antidiabetic treatment on age at PD onset and on all-cause mortality.
Research Design And Methods: The standardized rate of T2D was calculated for PD patients using the direct method and compared with subjects with essential tremor (ET) and the general Italian population.
Article Synopsis
- Levodopa/carbidopa intestinal gel (LCIG) is effective for treating advanced Parkinson's disease, but long-term safety and reasons for discontinuation need more research.
- A study involving 79 patients from two Italian Neurological Centers found a 32% mortality rate, with some complications occurring early in treatment and weight loss correlating with levodopa dosage.
- Overall, LCIG showed a satisfactory safety profile and a low discontinuation rate; complications related to the treatment site might predict longer therapy duration, suggesting that delaying LCIG therapy initiation doesn't worsen outcomes.