Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

Active City for Healthy Ageing and Anti-globesity

Health and urban space are two realities that need to progress in close connection; in fact, there is an increasing interest in identifying the links between architecture and public health and how urban design can positively influence the latter. A vision able to reconstruct a profitable reconnection between health, urban planning and environmental planning in line with current evidence and research on the cultural and organizational transition from Public Health to Urban Health is required. The research topic addresses the importance and the centrality of the User-Centred approach in the observation of the relationships established between man, technological systems and the constructed environment, identifying design strategies that guarantee the conditions of physical, mental and social well-being

The Role of Active Mobility for the Promotion of Urban Health

In the debate on the issue of designing spaces for ‘slow’ urban mobility, this paper emphasizes the importance and centrality of the human-centered approach through the observation of the relations that are established among people, technological systems and constructed environments in order to design according to anatomical and metric needs (anthropometric view) as well as to the needs linked with perception and cognitive processes (anthropocentric view). Two levels of interface in the person-system relationship have been identified, the “individual space”, where internal variables impact the “user system” (factors related to the psycho-physiological perception of space), and the “prosthetic space”, where external variables influence the “environment system” (factors that influence the capability of the architectural space to become physiologically and behaviorally prosthetic)