Abstract|Mixed Topics 2| Volume 357, SUPPLEMENT 1, e44, October 15, 2015

Familial, autosomal-dominant neurodegenerative parkinsonism with cognitive deterioration spanning five generations in a genetically isolated population of South-Eastern Moravia, Czech Republic

      Objective: To obtain more detailed medical history information about the relatives of individuals with confirmed parkinsonism in an isolated region with a rural population in south-eastern Moravia, Czech Republic.
      Background: An epidemiological study conducted over four years revealed an increased prevalence of neurodegenerative parkinsonism in a small, isolated region (10 villages, with a combined population of 8664, with approx. 2927 over 50 years of age) of south-eastern Moravia, Czech Republic.
      Methods: Detailed genealogical research was performed on the families of all the subjects with confirmed parkinsonism and the pedigrees were compiled; these were further amended on the basis of information obtained through a consecutive door-to-door survey and by means of local municipal and church registers.
      Results: In the first stage, three large pedigrees with a familial occurrence of parkinsonism were found; two of them originated in one of the region’s villages. In the second stage, these two pedigrees were completed into one large family tree with an apparent autosomal-dominant inheritance pattern of parkinsonism spanning generations from 1840 to the present.
      Conclusions: The high prevalence of parkinsonism in the researched area is caused by the familial aggregation of parkinsonism that was found in two large family trees. This familial aggregation of parkinsonism is probably the result of the genetic isolation of the regional population due to the very low migration rate of its inhabitants to neighboring regions in the last two centuries. A detailed genetic and molecular-genetic analysis are currently underway in all probands in whom the parkinsonism symptoms were documented and in all of their blood relatives.
      Supported by grants: IGA MZ ČR NT – 14407-3/2015 and IGA LFUP 2015-011.