[Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community]. / Descripción de una genealogía endogámica, multigeneracional y extendida con corea hereditaria benigna, perteneciente a la comunidad Paisa.
Rev Neurol
; 41(2): 95-8, 2005.
Article
en Es
| MEDLINE
| ID: mdl-16028188
ABSTRACT
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.
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Banco de datos:
MEDLINE
Asunto principal:
Corea
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Colombia
Idioma:
Es
Año:
2005
Tipo del documento:
Article