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Background: Exposure to the arts is vital to our quality of life, providing opportunities for social connection, engagement with past hobbies and perhaps most essentially in providing the potential for enhanced means of expression. For individuals with dementia and their care-givers, access to the arts can be challenging., Method: This article describes a pilot program designed to enhance access by people with dementia and to provide deeper engagement with artists, therapist s and caregivers. Participants attended music and theater performances with caregivers, then attended workshops designed to deepen the experience. Workshops grouped participants by severity of dementia and measurements of engagement during and after the program were developed to assess the efficacy of the pilot program., Results: Enhanced quality of life was noted for people with dementia and the caregivers who attended the programs with them., Conclusion: This project, the first of its kind, is a starting point. There has not been another to integrate professional musicians of varying genres, with people in the community with Alzheimer' s, and most particularly, by providing after-performance groups that assisted members' processing. Designing programs incorporating the arts as applicable to community-based institutions may expand their impact.

Background: Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN)., Objective: To determine the frequency of GRN mutations in a cohort of Caucasian patients with FTD without mutations in known FTD genes., Methods: GRN was sequenced in a series of 78 independent FTD patients including 23 familial subjects. A different Calabrian dataset (109 normal control subjects and 96 FTD patients) was used to establish the frequency of the GRN mutation., Results: A novel truncating GRN mutation (c.1145insA) was detected in a proband of an extended consanguineous Calabrian kindred. Segregation analysis of 70 family members revealed 19 heterozygous mutation carriers including 9 patients affected by FTD. The absence of homozygous carriers in a highly consanguineous kindred may indicate that the loss of both GRN alleles might lead to embryonic lethality. An extremely variable age at onset in the mutation carriers (more than five decades apart) is not explained by APOE genotypes or the H1/H2 MAPT haplotypes. Intriguingly, the mutation was excluded in four FTD patients belonging to branches with an autosomal dominant mode of inheritance of FTD, suggesting that another novel FTD gene accounts for the disease in the phenocopies. It is difficult to clinically distinguish phenocopies from GRN mutation carriers, except that language in mutation carriers was more severely compromised., Conclusion: The current results imply further genetic heterogeneity of frontotemporal dementia, as we detected only one GRN-linked family (about 1%). The value of discovering large kindred includes the possibility of a longitudinal study of GRN mutation carriers.

Frontotemporal dementia (FTD) is a complex dementing syndrome whose genetic/non genetic risk factors are mostly unknown. Aim of the present work was to investigate whether APOE and/or tau gene variability does affect the risk of FTD. A sample of FTD cases (sporadic: n = 54; familial: n = 46, one subject per family) was collected in a genetically homogeneous population (Calabria, southern Italy) and analyzed in comparison with an age- and sex-matched control group (n = 180) extracted from the same population. Logistic regression analysis showed that APOE gene variability affects the probability of disease, with allele epsilon4 increasing (exp(beta1) = 2.68 with [1.51-4.76] 95% confidence interval; p = 0.001) and allele epsilon2 decreasing (exp(beta1) = 0.28 with [0.12-0.66] 95% confidence interval; p = 0.003) the risk of FTD. On the contrary, tau gene variability was ineffectual (exp(beta1) non significantly different from 1 for either H1 or H2 haplotypes), although a small effect was observed by the H1 haplotype in increasing the protective effect of the epsilon2 allele (p = 0.007).

Apolipoprotein(a) [apo(a)] is a genetically polymorphic glycoprotein that has several similarities to apolipoprotein E. However, its role as a risk factor for frontotemporal dementia (FTD) remains to be elucidated. We therefore investigated the effect of an apo(a) polymorphism on the incidence of FTD in a sample of Caucasian Italian patients. From the entire group of FTD patients (n=54), 55.6% of the subjects had at least one apo(a) low molecular weight (MW) isoform, compared to 29.9% of non-demented controls (n=77). The difference between the two groups was statistically significant (odds ratio 2.93, 95% confidence interval 1.42-6.06, P=0.003). The FTD group was further divided into sporadic (n=26) and familial (n=28) cases. Even after such dichotomization, both sporadic and familial FTD patients showed a significantly higher prevalence of low MW apo(a) isoforms than the cognitively healthy controls (P=0.011 and P=0.025, respectively). Our data suggest a role of apo(a) phenotypes of low MW in mediating susceptibility to FTD.