Familial generalized epilepsy in Bulgarian Roma.

摘要

AIMS: Gypsy communities constitute cultural and frequently inbred genetic isolates. Several genetic neurological disorders have been identified in these communities. Epilepsy appears as a fairly frequent medical condition among Bulgarian Gypsies, and many patients can be related to large pedigrees that may then be studied by conventional genetic linkage analyses. PATIENTS AND METHODS: We identified two large Wallachian Gypsy families from the Plovdiv and Varna regions of Bulgaria, with detailed clinical questionnaires and examination, and EEG recordings for many. Genetic linkage analysis was performed using microsatellite markers spaced across the human genome. RESULTS: Although phenotypes were not always easy to identify, epilepsy appears in both families as a dominant, or pseudo-dominant trait, with the characteristics of idiopathic generalized epilepsy with onset at various ages, with infrequent, generalized tonic-clonic seizures, some associated with fever in childhood, but without sensitivity to fever in later life. While few markers yielded LOD scores > 2, no locus showed significant linkage, assuming autosomal dominant or recessive modes of inheritance. CONCLUSION: Idiopathic generalized epilepsy, with a marked familial character, has not been reported to date in Bulgarian Gypsies. Both pedigrees studied here present with an identifiable epilepsy type inherited as a Mendelian trait. Despite the current lack of significant linkage, these families may constitute interesting ground for further genetic studies, on condition that more patients and families can be recruited. [Published with supplemental data on DVD].