Hartvigsen Barlow

PPP2R5D-related neurodevelopmental disorder is characterized by a range of neurodevelopmental and behavioral manifestations. We report the association of early-onset parkinsonism with the PPP2R5D p.E200K mutation. Clinical characterization and exome sequencing were performed on three patients, with postmortem neuropathologic examination for one…[Read more]

Longevity is a complex process controlled by both environmental and genetic factors. We evaluated the association of four cytokine gene polymorphisms with longevity in an Italian cohort. A sample of 1019 subjects aged 10 to 100 and belonging to the North-Italian population was genotyped for IL-6 (G>C, rs1800796), IL-10-1082 (G>A, rs1800896),…[Read more]