Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate

Objective - A door-to-door two-phase study was designed in order to estimate the prevalence of cognitive deficit amongst the residents of a district in Tuscany (central Italy). Identification of cases with mild cognitive impairment (MCI) was given high priority, because this condition has been suggested as a term for the boundary area between normal aging and dementia. Methods - Of the 1600 subjects who completed the screening phase, 354 scored under the cut-off point of the Mini Mental State Examination and Clinical Dementia Rating and were investigated by means of a standardized diagnostic protocol. Results - The prevalence of MCI and age-related cognitive decline was 4.9 and 9.3%, respectively; low levels of education significantly increased the risk of these conditions. The prevalence of dementia over age 65 was 6.2%, with a significant risk association with age. In our population, Alzheimer's disease was the most frequent type of dementia (prevalence rate 4.2%) and increased risk depending on age, sex and education has been found. Conclusions - Our findings are somewhat similar to previous studies. Further epidemiological and longitudinal studies are warranted to identify which diagnostic category is more predictive for dementia.