Nota Clínica

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

J.C. Pérez-Poveda, L.G. Palacio, M. Arcos-Burgos [REV NEUROL 2005;41:95-98] PMID: 16028188 DOI: https://doi.org/10.33588/rn.4102.2004414

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Volumen 41 | Number 02 | Nº of views of the article 9.527 | Nº of PDF downloads 375 | Article publication date 16/07/2005

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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. KeywordsBenign hereditary chorea Genetics Inheritance Movement disorders CategoriesTrastornos del movimiento

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Nota Clínica

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