Publications by authors named "F Squitieri"
People with Huntington's disease (HD) often experience psychological difficulties linked with disease progression and the adjustment to living with a chronic condition, which are also frequently shared by their informal caregivers (e.g., partners).
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- Pediatric-onset Huntington's disease (POHD) shows different symptoms than adult-onset HD (AOHD), primarily presenting with movement disorders like rigidity instead of the chorea seen in AOHD.
- Researchers sought to find specific biomarkers related to the pathophysiology of POHD by using advanced imaging techniques and comprehensive clinical assessments.
- Results indicated that POHD is characterized by more severe striatal volume loss and significant alterations in glucose metabolism across various brain regions compared to AOHD, reinforcing the idea that POHD is a distinct condition with unique biological traits.
Autophagy is a conserved pathway where cytoplasmic contents are engulfed by autophagosomes, which then fuse with lysosomes enabling their degradation. Mutations in core autophagy genes cause neurological conditions, and autophagy defects are seen in neurodegenerative diseases such as Parkinson's disease and Huntington's disease. Thus, we have sought to understand the cellular pathway perturbations that autophagy-perturbed cells are vulnerable to by seeking negative genetic interactions such as synthetic lethality in autophagy-null human cells using available data from yeast screens.
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- Researchers studied the use of virtual reality (VR) as an additional method to improve various impairments in early stages of Huntington disease compared to healthy individuals.
- The study evaluated factors like participants' presence, usability, and tolerability of VR, and found no significant differences between patients with Huntington disease and healthy controls.
- Preliminary findings suggest that while no correlations were found between clinical characteristics and VR experience, the potential for VR in rehabilitation and support for Huntington disease patients is worth exploring further.
Introduction: eHealth seems promising in addressing challenges in the provision of care for Huntington's disease (HD) across Europe. By harnessing information and communication technologies, eHealth can partially relocate care from specialized centers to the patients' home, thereby increasing the availability and accessibility of specialty care services beyond regional borders. Previous research on eHealth (development) in HD is however limited, especially when it comes to including eHealth services specifically designed together with HD gene expansion carriers (HDGECs) and their partners to fit their needs and expectations.
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