K13 First Middle Eastern Focus On Research And Assistance On Huntington Disease In Oman

Background Huntington disease (HD) was sporadically described in the Arabic population, so far. Since Arabic people frequently marry within the same family, the mutation risk is reiterating in offspring. In Oman, only few and anecdotal reports, are known. Aims To set a HD Centre in the Middle East. Methods A Neurogenetic Centre with outpatient and molecular diagnostic services focused on HD, was inaugurated by Ministry of Health at Royal Hospital, Oman, in November 2013. We analysed clinical, genetic and demographic features of affected and at risk subjects from a large and inbred family from Muscat and surroundings. Results In this six generations family we have visited 23 alive symptomatic subjects of 42 reported by genealogical retrospective analysis. We counted about 84, 50% and 86, 25%, at risk individuals. We found 18 people with a theoretical risk >50%, due to intermarriages and four with a risk of homozygousity for CAG mutation. DNA testing was provided, after informed consent, with the support of genetic counselling, and clinical data were collected by the Unified HD Rating Scale. Age at onset ranged between 2 and 79 years, (CAG)n between 39 (oldest onset) and over 80 (earliest onset) repeats. By careful interview of family members, we deduced that the ancestor carrying the HD mutation to Oman immigrated from Tanzania, Africa. Conclusions Our collaborative effort aims to improve medical assistance and social awareness on HD and related diseases in Middle East. Accordingly, we have now contributed to set the first HD family association in Middle East (www.hdom.org), in strict collaboration with Italian LIRH (www.lirh.it).