INTRODUCTION: The benign chorea hereditary (BCH, OMIM 118700) represents a childhood movement disorder characterized by its early onset, a slow progressive course (mostly stable) and the absence of mental compromise, which contrast with the clinical features exhibited by the Huntington Disease. CASE REPORTS: Here we describe a multigenerational, extended and inbreed family belonging to a genetic isolate, the Paisa community from Antioquia Colombia, with seven children exhibiting clinical features of BCH. Even though some patients with BCH are heterozygous for a dominant mutation in the thyroid transcription factor-1 gene (TITF1), the pattern in this family resembles a recessive mode of inheritance, which suggests that genetic heterogeneity may be playing a role. CONCLUSION: Currently, linkage analysis is underway to determine if TITF1 is the gene responsible for this movement disorder in this family.
INTRODUCTION: The benign chorea hereditary (BCH, OMIM 118700) represents a childhood movement disorder characterized by its early onset, a slow progressive course (mostly stable) and the absence of mental compromise, which contrast with the clinical features exhibited by the Huntington Disease. CASE REPORTS: Here we describe a multigenerational, extended and inbreed family belonging to a genetic isolate, the Paisa community from Antioquia Colombia, with seven children exhibiting clinical features of BCH. Even though some patients with BCH are heterozygous for a dominant mutation in the thyroid transcription factor-1 gene (TITF1), the pattern in this family resembles a recessive mode of inheritance, which suggests that genetic heterogeneity may be playing a role. CONCLUSION: Currently, linkage analysis is underway to determine if TITF1 is the gene responsible for this movement disorder in this family.