[Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community].
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
Currently, linkage analysis is underway to determine if TITF1 is the gene responsible for this movement disorder in this family.
Pérez-Póveda
J C
JC
Instituto Neurológico de Antioquia, Medellín, Colombia.
Palacio
L G
LG
Arcos-Burgos
M
M
D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000175:diagnosis / Q000235:genetics*; D003105:Colombia; D003241:Consanguinity; D003937:Diagnosis, Differential; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis; D008297:Male; D010375:Pedigree